Alport syndrome: Difference between revisions

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Latest revision as of 13:49, 2 December 2016

For patient information on this page, click here Template:DiseaseDisorder infobox

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]

Synonyms and keywords: Hereditary nephritis; hemorrhagic familial nephritis; X-linked nephropathy and deafness; hematuria-nephropathy-deafness; hereditary deafness and nephropathy

Overview

Historical Perspective

Pathophysiology

Causes

Differentiating Alport syndrome from other Diseases

Epidemiology and Demographics

Natural History, Complications and Prognosis

Diagnosis

Treatment

Case Studies

Case #1

This article incorporates public domain text from The U.S. National Library of Medicine

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+'''For patient information on this page, click [[Alport syndrome (patient information)|here]]'''
 {{DiseaseDisorder infobox |
    Name           = Alport syndrome |
    ICD10          = {{ICD10|Q|87|8|q|80}} |
-   ICD9           = {{ICD9|759.89}} |
+   ICD9           = |
    ICDO           = |
    Image          = |
    Caption        = |
    OMIM           = 301050 |
-   OMIM_mult      = {{OMIM2|104200}} {{OMIM2|203780}} {{OMIM2|300195}} |
+   OMIM_mult      = {{OMIM2|104200}} {{OMIM2|203780}}|
    MedlinePlus    = 000504 |
-  eMedicineSubj  = med |
-  eMedicineTopic = 110 |
    DiseasesDB     = 454 |
    MeshID         = D009394 |
 }}
-{{Search infobox}}
+{{Alport syndrome}}
-{{CMG}}
+{{CMG}}; {{AE}} {{AN}}
-{{EH}}
+{{SK}} Hereditary nephritis; hemorrhagic familial nephritis; X-linked nephropathy and deafness; hematuria-nephropathy-deafness; hereditary deafness and nephropathy
-'''Alport syndrome''' is a [[genetic disorder|genetic]] condition characterized by the progressive loss of [[kidney]] function and hearing. Alport syndrome can also affect the eyes. The presence of [[blood]] in the [[urine]] ([[hematuria]]) is almost always found in this condition.
+==[[Alport syndrome overview|Overview]]==
+==[[Alport syndrome historical perspective|Historical Perspective]]==
+==[[Alport syndrome pathophysiology |Pathophysiology]]==
+==[[Alport syndrome causes|Causes]]==
+==[[Alport syndrome differential diagnosis|Differentiating Alport syndrome from other Diseases]]==
+==[[Alport syndrome epidemiology and demographics|Epidemiology and Demographics]]==
+==[[Alport syndrome natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
+==Diagnosis==
+[[Alport syndrome diagnostic criteria|Diagnostic Criteria]] | [[Alport syndrome history and symptoms|History and Symptoms]] | [[Alport syndrome physical examination|Physical Examination]] | [[Alport syndrome laboratory findings|Laboratory Findings]] | [[Alport syndrome echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Alport syndrome other diagnostic studies|Other Diagnostic Studies]]
-It was first identified in a British family by Dr. [[Cecil A. Alport]] in 1927.
+==Treatment==
+[[Alport syndrome medical therapy|Medical Therapy]] | [[Alport syndrome surgery|Surgery]] | [[Alport syndrome primary prevention|Primary Prevention]] | [[Alport syndrome secondary prevention|Secondary Prevention]] | [[Alport syndrome cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Alport syndrome future or investigational therapies|Future or Investigational Therapies]]
-==Causes==
+==Case Studies==
-Alport syndrome is caused by [[mutation]]s in ''[[COL4A3]]'', ''[[COL4A4]]'', and ''[[COL4A5]]'', [[collagen]] biosynthesis genes. Mutations in any of these genes prevent the proper production or assembly of the [[type IV collagen]] network, which is an important structural component of basement membranes in the [[kidney]], inner [[ear]], and [[eye]]. Basement membranes are thin, sheet-like structures that separate and support cells in many tissues. When mutations prevent the formation of type IV collagen fibers, the basement membranes of the kidneys are not able to filter waste products from the blood and create urine normally, allowing blood and [[protein]] into the urine. The abnormalities of type IV collagen in kidney basement membranes cause gradual scarring of the kidneys, eventually leading to kidney failure in many people with the disease.
+:[[Alport syndrome case study one|Case #1]]
-==Inheritance patterns==
-Alport syndrome can have different inheritance patterns that are dependent on the genetic mutation.
-*In most people with Alport syndrome, the condition is inherited in an [[X-linked]] pattern, due to mutations in the ''COL4A5'' gene. A condition is considered X-linked if the gene involved in the disorder is located on the [[X chromosome]]. In males, who have only one X chromosome, one altered copy of the ''COL4A5'' gene is sufficient to cause severe Alport syndrome, explaining why most affected males eventually develop kidney failure. In females, who have two X chromosomes, a mutation in one copy of the ''COL4A5'' gene usually results in blood in the urine, but most affected females do not develop kidney failure. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked diseases to their sons.
-*Alport syndrome can be inherited in an [[autosomal recessive]] pattern if both copies of the ''COL4A3'' or ''COL4A4'' gene, located on [[chromosome 2 (human)|chromosome 2]], have been mutated. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.
-==Criteria for the clinical diagnosis==
-Gregory et al, 1996, give the following 10 criteria for the diagnosis of Alport syndrome, 4 of the 10 criteria must be met:
-* Family history of [[nephritis]] of unexplained haematuria in a first degree relative of the [[index case]] or in a male relative linked through any numbers of females.
-* Persistent haematuria without evidence of another possibly inherited nephropathy such as [[thin GBM disease]], [[polycystic kidney disease]] or [[IgA nephropathy]].
-* Bilateral [[sensorineural hearing loss]] in the 2000 to 8000 Hz range. The hearing loss develops gradually, is not present in early infancy and commonly presents before the age of 30 years.
-* A [[mutation]] in [[COL4An]] (where n = 3, 4 or 5).
-* [[Immunohistochemistry|Immunohistochemical]] evidence of complete or partial lack of the Alport [[epitope]] in glomerular, or epidermal basement membranes, or both.
-* Widespread [[GBM]] ultrastructural abnormalities, in particular thickening, thinning and splitting.
-* Ocular lesions including anterior lenticonus, posterior subcapsular cataract, posterior polymorphous dystrophy and retinal flecks.
-* Gradual progression to [[ESRD]] in the index case of at least two family members.
-* Macrothrombocytopenia or granulocytic inclusions.
-* Diffuse [[leiomyomatosis]] of [[esophagus]] or [[female genitalia]], or both.
-==References==
-*  Kashtan CE. Michael AF. Alport syndrome. ''Kidney International''. 50(5):1445-63, 1996 Nov.[http://www.cc.utah.edu/~cla6202/Chap.htm]
-* Tryggvason K. Heikkila P. Pettersson E. Tibell A. Thorner P. Can Alport syndrome be treated by gene therapy?.  ''Kidney International.'' 51(5):1493-9, 1997 May.
-* Gregory MC et al: Alport syndrome clinical phenotypes, incidence and pathology, in ''Molecular Pathology and Genetics of Alport Syndrome'' (vol 117), edited by Tryggvason K, Basel, Karger, 1996, pp 1-28
 ''This article incorporates public domain text from [http://ghr.nlm.nih.gov The U.S. National Library of Medicine]''
-==External links==
-[http://www.moldiag.de/en/dis/alport.htm Laboratory for Molecular Diagnostics, Center for Nephrology and Metabolic Disorders, Dr Mato Nagel]
-{{Phakomatoses and other congenital malformations not elsewhere classified}}
-{{SIB}}
 [[Category:Genetic disorders]]
 [[Category:Kidney diseases]]
 [[Category:Syndromes]]
+[[Category:Disease]]
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-[[de:Alport-Syndrom]]
-[[es:Síndrome de Alport]]
-[[fa:سندروم آلپورت]]
-[[fr:Néphropathies par anomalie du collagène IV]]
-[[it:Sindrome di Alport]]
-[[he:תסמונת אלפורט]]
-[[nl:Syndroom van Alport]]
-[[ja:アルポート症候群]]
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