Alpha 1-antitrypsin deficiency differential diagnosis: Difference between revisions

Jump to navigation Jump to search
No edit summary
No edit summary
 
(6 intermediate revisions by 2 users not shown)
Line 1: Line 1:
__NOTOC__
__NOTOC__
{{Alpha 1-antitrypsin deficiency}}
[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Alpha_1-antitrypsin_deficiency]]
{{CMG}}; {{AE}} {{Mazia}}
{{CMG}}; {{AE}} {{Mazia}}


==Overview==
==Overview==
Alpha 1-antitrypsin deficiency has to be differentiated from other conditions with similar presentation like autoimmune hepatitis, bronchiectasis, bronchitis, chronic obstructive pulmonary disease (COPD),cystic fibrosis,emphysema,primary ciliary dyskinesia (Kartagener Syndrome),viral hepatitis.
Alpha 1-antitrypsin deficiency has to be differentiated from other conditions with similar presentation like [[autoimmune hepatitis]], [[bronchiectasis]], [[bronchitis]], [[Chronic obstructive pulmonary disease|chronic obstructive pulmonary disease (COPD)]], [[cystic fibrosis]], [[emphysema]], [[primary ciliary dyskinesia]] ([[Kartagener's Syndrome|Kartagener Syndrome]]), [[viral hepatitis]].


==Differentiating Alpha 1-antitrypsin deficiency from Other Diseases==
==Differentiating Alpha 1-antitrypsin deficiency from Other Diseases==
Alpha 1-antitrypsin deficiency presents with symptoms of  
Alpha 1-antitrypsin deficiency presents with symptoms of [[emphysema]] associated with compromised [[Liver function tests abnormality|liver function tests]] and/or [[cirrhosis]]. Differential diagnosis of jaundice and RUQ pain includes:
 
Differential diagnosis of jaundice and Right upper quadrant abdominal pain includes


'''Jaundice and RUQ pain differential diagnosis are:'''
'''Jaundice and RUQ pain differential diagnosis are:'''
Line 39: Line 37:
|-
|-
! rowspan="12" style="background:#4479BA; color: #FFFFFF;" align="center" |Jaundice
! rowspan="12" style="background:#4479BA; color: #FFFFFF;" align="center" |Jaundice
! colspan="1" rowspan="5" style="padding: 5px 5px; background: #DCDCDC;" align="center" | Hepatocellular Jaundice
! colspan="1" rowspan="5" style="padding: 5px 5px; background: #DCDCDC;" align="center" | [[Hepatocellular Disease|Hepatocellular Jaundice]]
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Hemochromatosis
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Hemochromatosis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
Line 52: Line 50:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Ferritin ↑  
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Ferritin]] ↑  
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Liver biopsy
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Liver biopsy]]
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Wilson's disease
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Wilson's disease]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
Line 67: Line 65:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Serum cerulloplasmin ↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Ceruloplasmin|Serum cerulloplasmin]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Liver biopsy
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Liver biopsy]]
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Alcoholic hepatitis
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Alcoholic hepatitis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
Line 85: Line 83:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Cirrhosis
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Cirrhosis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
Line 97: Line 95:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑/N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑/N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Low platate
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Thrombocytopenia]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Small liver on ultrasond
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Liver|hypotrophied liver on ultrasound]]
|-
|-
!Alpha 1-antitrypsin deficiency
![[Alpha 1-antitrypsin deficiency]]
!+
!+
!-/+
!-/+
Line 112: Line 110:
!↑/N
!↑/N
!-
!-
!Serum alpha1-antitrypsin levels decreased
![[Alpha1 antitrypsin|Serum alpha1-antitrypsin levels]] decreased
!Hepatomegaly on CT
![[Hepatomegaly]] on [[CT-scans|CT]]
|-
|-
! rowspan="6" style="padding: 5px 5px; background: #DCDCDC;" align="center" | Cholestatic Jaundice
! rowspan="6" style="padding: 5px 5px; background: #DCDCDC;" align="center" | [[Cholestatic]] [[Jaundice]]
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Common bile duct stone
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Bile duct|Common bile duct stone]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
Line 128: Line 126:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Dilated ducts on sono
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Dilated ducts on [[sonography]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |CT/ERCP
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[CT]]/[[ERCP]]
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Hepatitis A cholestatic type
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Hepatitis A]] [[Cholestatic|cholestatic type]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
Line 143: Line 141:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |HAV- AB
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[HAV infection|HAV- AB]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Abdominal ultrasound
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Ultrasound|Abdominal ultrasound]]
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |EBV / CMV hepatitis
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Epstein Barr virus|EBV]] / [[CMV infection|CMV]] [[hepatitis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
Line 158: Line 156:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Positive serology
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Serology|Positive serology]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Primary biliary cirrhosis
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Primary biliary cirrhosis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
Line 173: Line 171:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |AMA positive
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Anti-mitochondrial antibody|AMA positive]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Liver biopsy
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Liver biopsy]]
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Primary sclerosing cholangitis
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Primary sclerosing cholangitis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
Line 188: Line 186:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Beading on MRCP  
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Beading on [[Magnetic resonance cholangiopancreatography|MRCP]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Liver biopsy
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Liver biopsy]]
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Pancreatic carcinoma
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Pancreatic carcinoma]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
Line 203: Line 201:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Mass on ultrasond
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Mass on [[ultrasound]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |CT scan for diagnosis
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[CT scanning|CT scan]] for [[diagnosis]]
|-
|-
|}
|}
Line 236: Line 234:
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |Viral serology
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |Viral serology
|-
|-
! rowspan="6" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Jaundice
! rowspan="6" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Jaundice]]
! rowspan="3" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Hepatocellular Jaundice
! rowspan="3" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Jaundice|Hepatocellular Jaundice]]
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Alcoholic hepatitis
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Alcoholic hepatitis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
Line 253: Line 251:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Cirrhosis
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Cirrhosis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
Line 265: Line 263:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑/N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑/N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Low platate
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Thrombocytopenia]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Small liver on ultrasond
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Liver|Small liver]] on [[ultrasound]]
|-
|-
!Alpha 1-antitrypsin deficiency
![[Alpha 1-antitrypsin deficiency]]
!+
!+
!-/+
!-/+
Line 280: Line 278:
!↑/N
!↑/N
!-
!-
!Serum alpha1-antitrypsin levels decreased
!Serum [[Alpha1-antitrypsin deficiency|alpha1-antitrypsin]] levels decreased
!Hepatomegaly on CT
![[Hepatomegaly]] on [[CT]]
|-
|-
! rowspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Cholestatic Jaundice
! rowspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Cholestatic]] [[Jaundice]]
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Hepatitis A cholestatic type
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Hepatitis]] A [[Cholestatic|cholestatic type]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
Line 296: Line 294:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |HAV- AB
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[HAV infection|HAV- AB]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Abdominal ultrasound
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Ultrasound|Abdominal ultrasound]]
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |EBV / CMV hepatitis
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Epstein Barr virus|EBV]] / [[CMV|CMV hepatitis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
Line 311: Line 309:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Positive serology
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Positive [[serology]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |PCR or ELISA
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[PCR]] or [[Enzyme linked immunosorbent assay (ELISA)|ELISA]]
|-
|-
|}
|}
|}
|}
[[Differential diagnosis]] of [[cough]] with [[Wheezing|wheezes]] is :
{| class="wikitable"
{| class="wikitable"
! rowspan="2" |Diseases
! rowspan="2" |Diseases
Line 340: Line 339:
| +
| +
|
|
* Lab tests to exclude other [[Disease|diseases]]
* Lab tests to exclude other [[Disease|diseases]].
* Serum examination shows elevated level of [[Eosinophil|eosinophils]] due to [[allergy]]   
* Serum examination shows elevated level of [[Eosinophil|eosinophils]] due to [[allergy]].    
|
|
* [[CT scan]] shows:  
* [[CT scan]] shows:  
** Dilated [[bronchi]]
** Dilated [[bronchi]].
** Bronchial wall thickening
** Bronchial wall thickening.
** Air trapping
** Air trapping.
|-
|-
|[[Bronchiolitis]]
|[[Bronchiolitis]]
Line 356: Line 355:
| +/-
| +/-
|
|
* [[ELISA]] and [[immunoassays]] may be done in case of [[RSV]] [[infection]]  
* [[ELISA]] and [[immunoassays]] may be done in case of [[RSV]] [[infection]].
* [[Pulmonary function test]] to exclude other [[lung diseases]]<ref name="pmid18339530">{{cite journal| author=Ghanei M, Tazelaar HD, Chilosi M, Harandi AA, Peyman M, Akbari HM et al.| title=An international collaborative pathologic study of surgical lung biopsies from mustard gas-exposed patients. | journal=Respir Med | year= 2008 | volume= 102 | issue= 6 | pages= 825-30 | pmid=18339530 | doi=10.1016/j.rmed.2008.01.016 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18339530  }} </ref>
* [[Pulmonary function test]] to exclude other [[lung diseases]].<ref name="pmid18339530">{{cite journal| author=Ghanei M, Tazelaar HD, Chilosi M, Harandi AA, Peyman M, Akbari HM et al.| title=An international collaborative pathologic study of surgical lung biopsies from mustard gas-exposed patients. | journal=Respir Med | year= 2008 | volume= 102 | issue= 6 | pages= 825-30 | pmid=18339530 | doi=10.1016/j.rmed.2008.01.016 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18339530  }} </ref>
|
|
* [[CT scan]] shows:
* [[CT scan]] shows:
** Intense [[Bronchiolar epithelium|bronchiolar]] mural [[inflammation]]   
** Intense [[Bronchiolar epithelium|bronchiolar]] mural [[inflammation]].  
** [[bronchial]] wall thickening  
** [[bronchial]] wall thickening.
** Centrilobular [[nodules]] with tree-in-bud pattern   
** Centrilobular [[nodules]] with tree-in-bud pattern.  
|-
|-
|[[COPD]]
|[[COPD]]
Line 372: Line 371:
| +
| +
|
|
* [[Spirometry]]: [[FEV1/FVC ratio|FEV1/FVC]] < 70%
* [[Spirometry]]: [[FEV1/FVC ratio|FEV1/FVC]] < 70%.
* Arterial blood gases: [[hypoxemia]] and [[hypercapnia]]
* Arterial blood gases: [[hypoxemia]] and [[hypercapnia]].
* [[Sputum culture]]   
* [[Sputum culture]].  
|
|
* EKG may show:
* EKG may show:
** [[P pulmonale]]  
** [[P pulmonale]].
** [[right ventricular hypertrophy]]  
** [[right ventricular hypertrophy]].
** Narrow QRS<ref name="pmid23653989">{{cite journal| author=Lazović B, Svenda MZ, Mazić S, Stajić Z, Delić M| title=Analysis of electrocardiogram in chronic obstructive pulmonary disease patients. | journal=Med Pregl | year= 2013 | volume= 66 | issue= 3-4 | pages= 126-9 | pmid=23653989 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23653989  }} </ref>  
** Narrow QRS.<ref name="pmid23653989">{{cite journal| author=Lazović B, Svenda MZ, Mazić S, Stajić Z, Delić M| title=Analysis of electrocardiogram in chronic obstructive pulmonary disease patients. | journal=Med Pregl | year= 2013 | volume= 66 | issue= 3-4 | pages= 126-9 | pmid=23653989 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23653989  }} </ref>  
* CT scan is more sensitive in diagnosing COPD than X ray   
* CT scan is more sensitive in diagnosing COPD than X ray.  
|-
|-
|[[Bacterial pneumonia]]  
|[[Bacterial pneumonia]]  
|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
|Productive
|[[Productive cough|Productive]]
| +
| +
| +
| +
Line 390: Line 389:
| +/-
| +/-
|
|
* Diagnosis depends on presentation and physical examination  
* Diagnosis depends on presentation and physical examination.
* Laboratory tests
* Laboratory tests:
** [[arterial blood gases]] may show [[hypoxia]] and [[acidosis]]  
** [[arterial blood gases]] may show [[hypoxia]] and [[acidosis]].
** [[Sputum culture]]
** [[Sputum culture]].
|
|
* X ray is performed to detect:
* X ray is performed to detect:
** [[pleural effusion]]  
** [[pleural effusion]].
** Inflitrates within the [[lungs]].  
** Inflitrates within the [[lungs]].  
* CT scan shows:  
* CT scan shows:  
** [[Consolidation (medicine)|Consolidation]]  
** [[Consolidation (medicine)|Consolidation]].
** Ground glass appearance  
** Ground glass appearance.
|-
|-
|Cystic Fibrosis
|[[Cystic Fibrosis]]
| +/-
| +/-
|Productive  
|[[Productive cough|Productive]]
| +/-
| +/-
| -
| -
| -
| -
| +
| +
|Cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction evidenced by :
|[[Cystic fibrosis]] transmembrane conductance regulator (CFTR) dysfunction evidenced by :
* Elevated sweat chloride ≥60 mmol/L (on two occasions)
* Elevated [[Sweat chloride test|sweat chloride]] ≥60 mmol/L (on two occasions).


* Presence of two disease-causing mutations in CFTR, one from each parental allele
* Presence of two disease-causing [[mutations]] in CFTR, one from each [[Allele|parental allele]].


* Abnormal nasal potential difference
* Abnormal [[Potential difference|nasal potential difference]].
|Xray :
|[[X-ray]] :


Hyperinflation presents as:
Hyperinflation presents as:
* flattening of the diaphragm
* Flattening of the [[diaphragm]].


* anterior bowing of the infant sternum
* Anterior bowing of the infant [[sternum]].
* increased retrosternal air space
* Increased retrosternal air space.


* generalized pulmonary overinflation.
* Generalized [[pulmonary]] overinflation.
* Multiple nodular densities represent mucus plugging and may present in finger-in-glove shape or as a combination of V- or Y-shaped branching and bandlike shadows.
* Multiple nodular densities represent [[Mucus|mucus plugging]] and may present in finger-in-glove shape or as a combination of V- or Y-shaped branching and bandlike shadows.
Abdominal findings include dilated multiple loops of the small bowel are seen in neonatal meconium ileus and in meconium ileus.
Abdominal findings include dilated multiple loops of the [[small bowel]] are seen in [[Meconium ileus|neonatal meconium ileus]].
|-
|-
|Emphysema
|[[Emphysema]]
| +/-
| +/-
|Productive
|[[Productive cough|Productive]]
| -
| -
| +
| +
Line 435: Line 434:
| +
| +
|
|
* Arterial blood gas analysis: mild-to-moderate hypoxemia without hypercapnia that progresses to worsening hypoxemia  and hypercapnia develops.
* [[Arterial blood gases|Arterial blood gas analysis]]: mild-to-moderate [[hypoxemia]] without [[hypercapnia]] that progresses to worsening [[hypoxemia]] and [[hypercapnia]] develops.


* Chronic hypoxemia may lead to polycythemia.
* Chronic [[hypoxemia]] may lead to [[polycythemia]].
* Sputum is mucoid and the predominant cells are macrophages.
* [[Sputum]] is mucoid and the predominant cells are [[macrophages]].
|Chest X-ray reveals signs of emphysema include:
|[[Chest X-rays|Chest X-ray]] reveals signs of [[emphysema]] include:
* flattening of diaphragms
* Flattening of [[diaphragm]].


* increased retrosternal air space (see on lateral chest films)
* Increased retrosternal air space (see on lateral chest films).


* a long narrow heart shadow.  
* A long narrow [[heart]] shadow.  


* tapering vascular shadows  
* Tapering vascular shadows.


* hyperlucency of the lungs  
* Hyperlucency of the [[lungs]].
|-
|-
|Primary Ciliary Dyskinesia (Kartagener Syndrome)  
|[[Primary ciliary dyskinesia|Primary Ciliary Dyskinesia]] ([[Kartagener's Syndrome|Kartagener Syndrome]])  
| +/-
| +/-
|Productive  
|[[Productive cough|Productive]]
| -
| -
| +
| +
| +
| +
| +
| +
|Low or absent amount of nasal nitric oxide (nNO). mucociliary clearance may be useful for screening,
|
 
* Low or absent amount of nasal [[nitric oxide]] (nNO).
confirmation with tests of ciliary function and ultrastructure
* [[Mucociliary clearance]] may be useful for [[screening]].
|Chest X-ray reveals :
* Confirmation with tests of ciliary function.
 
|[[Chest X-rays|Chest X-ray]] reveals :
Bronchial wall thickening
* [[Bronchial]] wall thickening.
 
* [[Bronchiectasis]] and hyperinflation.
Bronchiectasis and hyperinflation
* Cystic [[bronchiectasis]] with air-fluid levels may be visible.
 
* Usually involves the lower and middle lobes.
Cystic bronchiectasis with air-fluid levels may be visible
 
Usually involves the lower and middle lobes.
|-
|-
|Alpha 1-antitrypsin deficiency
|[[Alpha 1-antitrypsin deficiency]]
| +/-
| +/-
|Productive
|[[Productive cough|Productive]]
| -
| -
| +
| +
| +
| +
| +
| +
|Reduced concentration of serum alpha1-antitrypsin levels is diagnostic of AATD.
|
Moderate-to-severe airflow obstruction with an FEV1
* Reduced concentration of serum [[Alpha1 antitrypsin|alpha1-antitrypsin levels]] is diagnostic of AATD.
 
* Moderate-to-severe airflow obstruction with an [[FEV1]].
Reduced vital capacity
* Reduced [[vital capacity]].
 
* Increased [[lung volumes]] secondary to air trapping ([[residual volume]] >120% of predicted value) are usually present.
Increased lung volumes secondary to air trapping (residual volume >120% of predicted value) are usually present
|[[Chest X-rays|Chest X-ray]] Alpha1-antitrypsin deficiency (AATD) [[emphysema]] presents as:
|Chest Xray Alpha1-antitrypsin deficiency (AATD) emphysema presents as:
* a hyperlucent appearance because healthy tissue has been destroyed.
* a hyperlucent appearance because healthy tissue has been destroyed.
* Affected regions also are described as oligemic because they lack the normal rich pattern of branching blood vessels.
* Affected regions also are described as oligemic because they lack the normal rich pattern of branching blood vessels.
* An unusual characteristic in alpha1-antitrypsin deficiency is found in about two thirds of PiZZ patients; the emphysema has a striking basilar distribution.
* An unusual characteristic in alpha1-antitrypsin deficiency is found in about 60% of PiZZ patients is a striking basilar distribution.
* In contrast, cigarette smoking is associated with more severe apical disease.
* In contrast, [[cigarette smoking]] is associated with more severe apical disease.
|}
|}


AATD can present as neonatal jaundice. The diffrential diagnosis for neonatal jaundice is: <ref name="pmid28145671">{{cite journal |vauthors=Fargo MV, Grogan SP, Saguil A |title=Evaluation of Jaundice in Adults |journal=Am Fam Physician |volume=95 |issue=3 |pages=164–168 |year=2017 |pmid=28145671 |doi= |url=}}</ref>
AATD can present as [[neonatal jaundice]]. The differential diagnosis for [[neonatal jaundice]] is: <ref name="pmid28145671">{{cite journal |vauthors=Fargo MV, Grogan SP, Saguil A |title=Evaluation of Jaundice in Adults |journal=Am Fam Physician |volume=95 |issue=3 |pages=164–168 |year=2017 |pmid=28145671 |doi= |url=}}</ref>


{| align="center"
{| align="center"
Line 496: Line 491:
|
|
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"
! rowspan="3" align="center" style="background:#4479BA; color: #FFFFFF;" |Etiology Of Neonatal Jaundice  
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" |Etiology Of Neonatal Jaundice  
! colspan="4" rowspan="2" align="center" style="background:#4479BA; color: #FFFFFF;" |History and clinical manifestations
! colspan="4" rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" |History and clinical manifestations
! colspan="8" align="center" style="background:#4479BA; color: #FFFFFF;" |Diagnosis
! colspan="8" style="background:#4479BA; color: #FFFFFF;" align="center" |Diagnosis
|-
|-
! colspan="6" align="center" style="background:#4479BA; color: #FFFFFF;" |Lab Findings
! colspan="6" style="background:#4479BA; color: #FFFFFF;" align="center" |Lab Findings
! rowspan="2" align="center" style="background:#4479BA; color: #FFFFFF;" |Other blood tests
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" |Other blood tests
! rowspan="2" align="center" style="background:#4479BA; color: #FFFFFF;" |Other diagnostic
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" |Other diagnostic
|-
|-
! rowspan="1" align="center" style="background:#4479BA; color: #FFFFFF;" |Family history
! rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |Family history
! align="center" style="background:#4479BA; color: #FFFFFF;" |Fever
! style="background:#4479BA; color: #FFFFFF;" align="center" |Fever
! align="center" style="background:#4479BA; color: #FFFFFF;" |RUQ Pain
! style="background:#4479BA; color: #FFFFFF;" align="center" |RUQ Pain
! align="center" style="background:#4479BA; color: #FFFFFF;" |Pruritis
! style="background:#4479BA; color: #FFFFFF;" align="center" |Pruritis
! colspan="1" rowspan="1" align="center" style="background:#4479BA; color: #FFFFFF;" |AST
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |AST
! colspan="1" rowspan="1" align="center" style="background:#4479BA; color: #FFFFFF;" |ALT
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |ALT
! colspan="1" rowspan="1" align="center" style="background:#4479BA; color: #FFFFFF;" |ALK
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |ALK
! colspan="1" rowspan="1" align="center" style="background:#4479BA; color: #FFFFFF;" |BLR Indirect
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |BLR Indirect
! colspan="1" rowspan="1" align="center" style="background:#4479BA; color: #FFFFFF;" |BLR Direct
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |BLR Direct
! colspan="1" rowspan="1" align="center" style="background:#4479BA; color: #FFFFFF;" |Viral serology
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |Viral serology
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Alpha-1 antitrypsin deficiency
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Alpha 1-antitrypsin deficiency|Alpha-1 antitrypsin deficiency]]
| +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
|↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
|↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
|N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
|↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
|
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
|Genetic testing
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Genetic testing]]
|Liver biopsy
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Liver biopsy]]
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Breast feeding failure jaundice
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Breast feeding]] failure [[jaundice]]
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Breast Milk Jaundice
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Breast-feeding|Breast Milk]] [[Jaundice]]
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Crigler-Najjar type 2
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Crigler-Najjar Syndrome|Crigler-Najjar type 2]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
Line 568: Line 563:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| colspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |Genetic testing
| colspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Genetic testing]]
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Gilbert Syndrome
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Gilbert's Syndrome|Gilbert Syndrome]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
Line 581: Line 576:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| colspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |Genetic testing
| colspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Genetic testing]]
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Rotor syndrome
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Rotor syndrome]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
Line 594: Line 589:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Genetic testing
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Genetic testing]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Liver biopsy
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Liver biopsy]]
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Dubin-Johnson syndrome
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Dubin-Johnson syndrome]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
Line 608: Line 603:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Genetic testing
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Genetic testing]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Liver biopsy
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Liver biopsy]]
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Hereditory spherocytosis
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Hereditary spherocytosis|Hereditory spherocytosis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
Line 622: Line 617:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Genetic testing
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Genetic testing]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Osmotic fragility
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Osmotic|Osmotic fragility]]
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |G6PD deficiency
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[G6PD deficiency]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
Line 636: Line 631:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| colspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |Genetic testing
| colspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Genetic testing]]
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Thalassemia
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Thalassemia]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
Line 649: Line 644:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| colspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |Genetic testing
| colspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Genetic testing]]
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Sickle cell disease
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Sickle cell disease]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
Line 662: Line 657:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| colspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |Genetic testing
| colspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Genetic testing]]
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Immune hemolysis
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Immune]] [[hemolysis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
Line 675: Line 670:
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| colspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |Autoantibodies
| colspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autoantibodies]]
|-
|-
|}
|}

Latest revision as of 18:01, 9 April 2019

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]

Overview

Alpha 1-antitrypsin deficiency has to be differentiated from other conditions with similar presentation like autoimmune hepatitis, bronchiectasis, bronchitis, chronic obstructive pulmonary disease (COPD), cystic fibrosis, emphysema, primary ciliary dyskinesia (Kartagener Syndrome), viral hepatitis.

Differentiating Alpha 1-antitrypsin deficiency from Other Diseases

Alpha 1-antitrypsin deficiency presents with symptoms of emphysema associated with compromised liver function tests and/or cirrhosis. Differential diagnosis of jaundice and RUQ pain includes:

Jaundice and RUQ pain differential diagnosis are:

Classification of jaundice based on etiology Disease History and clinical manifestations Diagnosis
Lab Findings Other blood tests Other diagnostic
Family history Fever RUQ Pain Pruritis Hepatomegaly AST ALT ALK BLR Indirect BLR Direct Viral serology
Jaundice Hepatocellular Jaundice Hemochromatosis + - -/+ - + ↑/N ↑/N N - Ferritin Liver biopsy
Wilson's disease + - -/+ - + N ↑/N N - Serum cerulloplasmin Liver biopsy
Alcoholic hepatitis - -/+ -/+ - + ↑↑ N ↑/N N - - -
Cirrhosis -/+ -/+ -/+ - -/+ ↑/N ↑/N ↑/N -/+ Thrombocytopenia hypotrophied liver on ultrasound
Alpha 1-antitrypsin deficiency + -/+ -/+ - + ↑/N ↑/N ↑/N - Serum alpha1-antitrypsin levels decreased Hepatomegaly on CT
Cholestatic Jaundice Common bile duct stone -/+ - + + -/+ N N N - Dilated ducts on sonography CT/ERCP
Hepatitis A cholestatic type - -/+ + + -/+ N N N + HAV- AB Abdominal ultrasound
EBV / CMV hepatitis - -/+ + + -/+ N N N + Positive serology
Primary biliary cirrhosis -/+ - -/+ + -/+ N/↑ N/↑ N - AMA positive Liver biopsy
Primary sclerosing cholangitis -/+ - -/+ + -/+ N/↑ N/↑ N - Beading on MRCP Liver biopsy
Pancreatic carcinoma + - -/+ - -/+ N/↑ N/↑ N - Mass on ultrasound CT scan for diagnosis

The differential diagnosis of jaundice, fever, and RUQ pain are:

Classification of jaundice based on etiology Disease History and clinical manifestations Diagnosis
Lab Findings Other blood tests Other diagnostic
Family history Fever RUQ Pain Pruritis Hepatomegaly AST ALT ALK BLR Indirect BLR Direct Viral serology
Jaundice Hepatocellular Jaundice Alcoholic hepatitis - -/+ -/+ - + ↑↑ N ↑/N N - - -
Cirrhosis -/+ -/+ -/+ - -/+ ↑/N ↑/N ↑/N -/+ Thrombocytopenia Small liver on ultrasound
Alpha 1-antitrypsin deficiency + -/+ -/+ - + ↑/N ↑/N ↑/N - Serum alpha1-antitrypsin levels decreased Hepatomegaly on CT
Cholestatic Jaundice Hepatitis A cholestatic type - -/+ + + -/+ N N N + HAV- AB Abdominal ultrasound
EBV / CMV hepatitis - -/+ + + -/+ N N N + Positive serology PCR or ELISA

Differential diagnosis of cough with wheezes is :

Diseases Symptoms Signs Diagosis
Fever Cough Chest pain Wheezes Crackles Tachypnea Lab tests Imaging
Asthma - Dry/Productive - + - +
  • CT scan shows:
    • Dilated bronchi.
    • Bronchial wall thickening.
    • Air trapping.
Bronchiolitis +/- Dry - + + +/-
COPD + Productive - + + +
Bacterial pneumonia + Productive + + + +/-
Cystic Fibrosis +/- Productive +/- - - + Cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction evidenced by : X-ray :

Hyperinflation presents as:

  • Anterior bowing of the infant sternum.
  • Increased retrosternal air space.
  • Generalized pulmonary overinflation.
  • Multiple nodular densities represent mucus plugging and may present in finger-in-glove shape or as a combination of V- or Y-shaped branching and bandlike shadows.

Abdominal findings include dilated multiple loops of the small bowel are seen in neonatal meconium ileus.

Emphysema +/- Productive - + +/- + Chest X-ray reveals signs of emphysema include:
  • Increased retrosternal air space (see on lateral chest films).
  • A long narrow heart shadow.
  • Tapering vascular shadows.
  • Hyperlucency of the lungs.
Primary Ciliary Dyskinesia (Kartagener Syndrome) +/- Productive - + + + Chest X-ray reveals :
Alpha 1-antitrypsin deficiency +/- Productive - + + + Chest X-ray Alpha1-antitrypsin deficiency (AATD) emphysema presents as:
  • a hyperlucent appearance because healthy tissue has been destroyed.
  • Affected regions also are described as oligemic because they lack the normal rich pattern of branching blood vessels.
  • An unusual characteristic in alpha1-antitrypsin deficiency is found in about 60% of PiZZ patients is a striking basilar distribution.
  • In contrast, cigarette smoking is associated with more severe apical disease.

AATD can present as neonatal jaundice. The differential diagnosis for neonatal jaundice is: [3]

Etiology Of Neonatal Jaundice History and clinical manifestations Diagnosis
Lab Findings Other blood tests Other diagnostic
Family history Fever RUQ Pain Pruritis AST ALT ALK BLR Indirect BLR Direct Viral serology
Alpha-1 antitrypsin deficiency + -/+ -/+ - N - Genetic testing Liver biopsy
Breast feeding failure jaundice - - - - - - - - - - -
Breast Milk Jaundice - - - - - - - - - - -
Crigler-Najjar type 2 + - - - N N N - Genetic testing
Gilbert Syndrome + - - - N N N - Genetic testing
Rotor syndrome + - - - N N N N - Genetic testing Liver biopsy
Dubin-Johnson syndrome + - - - N N N N - Genetic testing Liver biopsy
Hereditory spherocytosis + - -/+ - N N N N - Genetic testing Osmotic fragility
G6PD deficiency + - - - N N N N - Genetic testing
Thalassemia + - - - N N N N - Genetic testing
Sickle cell disease + - - - N N N N - Genetic testing
Immune hemolysis - -/+ - - N N N N - Autoantibodies

References

  1. Ghanei M, Tazelaar HD, Chilosi M, Harandi AA, Peyman M, Akbari HM; et al. (2008). "An international collaborative pathologic study of surgical lung biopsies from mustard gas-exposed patients". Respir Med. 102 (6): 825–30. doi:10.1016/j.rmed.2008.01.016. PMID 18339530.
  2. Lazović B, Svenda MZ, Mazić S, Stajić Z, Delić M (2013). "Analysis of electrocardiogram in chronic obstructive pulmonary disease patients". Med Pregl. 66 (3–4): 126–9. PMID 23653989.
  3. Fargo MV, Grogan SP, Saguil A (2017). "Evaluation of Jaundice in Adults". Am Fam Physician. 95 (3): 164–168. PMID 28145671.


Template:WikiDoc Sources