Thin basement membrane disease: Difference between revisions

Jump to navigation Jump to search
No edit summary
 
(18 intermediate revisions by the same user not shown)
Line 15: Line 15:
{{Thin basement membrane disease}}
{{Thin basement membrane disease}}


{{CMG}}
{{CMG}};
{{AE}} {{MMT}}


{{SK}} Thin basement membrane disease<ref name="pmid14524583">{{cite journal |vauthors=Takemura T, Yanagida H, Yagi K, Moriwaki K, Okada M |title=Alport syndrome and benign familial hematuria (thin basement membrane disease) in two brothers of a family with hematuria |journal=Clin. Nephrol. |volume=60 |issue=3 |pages=195–200 |date=September 2003 |pmid=14524583 |doi=10.5414/cnp60195 |url=}}</ref>; Thin membrane nephropathy<ref name="pmid9150478">{{cite journal |vauthors=Nieuwhof CM, de Heer F, de Leeuw P, van Breda Vriesman PJ |title=Thin GBM nephropathy: premature glomerular obsolescence is associated with hypertension and late onset renal failure |journal=Kidney Int. |volume=51 |issue=5 |pages=1596–601 |date=May 1997 |pmid=9150478 |doi=10.1038/ki.1997.219 |url=}}</ref>; thin GBM nephropathy; thin GBM syndrome; benign familial hematuria <ref name="pmid4899625">{{cite journal |vauthors=Marks MI, Drummond KN |title=Benign familial hematuria |journal=Pediatrics |volume=44 |issue=4 |pages=590–3 |date=October 1969 |pmid=4899625 |doi= |url=}}</ref>; benigm familial essential hematuria; congenital hereditary hematuria; hereditary hematuria; familial hematuric nephritis; benign hereditary hematuric nephritis
{{SK}} [[Thin basement membrane disease]]<ref name="pmid14524583">{{cite journal |vauthors=Takemura T, Yanagida H, Yagi K, Moriwaki K, Okada M |title=Alport syndrome and benign familial hematuria (thin basement membrane disease) in two brothers of a family with hematuria |journal=Clin. Nephrol. |volume=60 |issue=3 |pages=195–200 |date=September 2003 |pmid=14524583 |doi=10.5414/cnp60195 |url=}}</ref>; [[Thin membrane nephropathy]]<ref name="pmid9150478">{{cite journal |vauthors=Nieuwhof CM, de Heer F, de Leeuw P, van Breda Vriesman PJ |title=Thin GBM nephropathy: premature glomerular obsolescence is associated with hypertension and late onset renal failure |journal=Kidney Int. |volume=51 |issue=5 |pages=1596–601 |date=May 1997 |pmid=9150478 |doi=10.1038/ki.1997.219 |url=}}</ref>; [[thin GBM nephropathy]]; [[thin GBM syndrome]]; [[benign familial hematuria]] <ref name="pmid4899625">{{cite journal |vauthors=Marks MI, Drummond KN |title=Benign familial hematuria |journal=Pediatrics |volume=44 |issue=4 |pages=590–3 |date=October 1969 |pmid=4899625 |doi= |url=}}</ref>; [[benign]] familial essential [[hematuria]]; [[congenital]] [[hereditary]] [[hematuria]]; [[hereditary]] [[hematuria]]; [[familial]] hematuric [[nephritis]]; [[benign]] [[hereditary]] hematuric [[nephritis]]


==[[Thin basement membrane disease overview|Overview]]==
==[[Thin basement membrane disease overview|Overview]]==
Thin basement membrane disease (TBMD) is one of the inherited disorder of kidney affecting glomeruli. It is also known as Thin basement membrane nephropathy (TBMN) or thin membrane nephropathy or thin GBM syndrome or benign familial hematuria or benign familial essential hematuria or congenita hereditary hematuria or hereditary hematuria or familial hematuric nephritis or benign hereditary nephritis. Being the most frequent cause of familial hematuria TBMN is affecting 1% of population.<ref name="pmid12969134">{{cite journal |vauthors=Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY |title=Thin basement membrane nephropathy |journal=Kidney Int. |volume=64 |issue=4 |pages=1169–78 |date=October 2003 |pmid=12969134 |doi=10.1046/j.1523-1755.2003.00234.x |url=}}</ref> 40% of TBMN is caused by germline mutation in COL4A3, COL4A4 genes, but female carrier with COL4A5 mutation may develop TBMN. <ref name="pmid11318937">{{cite journal |vauthors=Buzza M, Wilson D, Savige J |title=Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome |journal=Kidney Int. |volume=59 |issue=5 |pages=1670–6 |date=May 2001 |pmid=11318937 |doi=10.1046/j.1523-1755.2001.0590051670.x |url=}}</ref>


==[[Thin basement membrane disease historical perspective|Historical Perspective]]==
==[[Thin basement membrane disease historical perspective|Historical Perspective]]==
In 1969, Melvin I. Marks and Keith N. Drummond published an article showing that seven out of eight siblings were having persistent hematuria for 6 months to 8 years duration without experiencing any symptoms. They did not find any abnormalities in renal biopsy, light microscopy, immunoflurocence. <ref name="pmid4899625">{{cite journal |vauthors=Marks MI, Drummond KN |title=Benign familial hematuria |journal=Pediatrics |volume=44 |issue=4 |pages=590–3 |date=October 1969 |pmid=4899625 |doi= |url=}}</ref> Then P. W. Rogers used electron microscopy to analyse the association between recurrent asymptomatic hematuria and thin glomerular basement membrane is discovered in 1973. <ref name="pmid4682986">{{cite journal |vauthors=Rogers PW, Kurtzman NA, Bunn SM, White MG |title=Familial benign essential hematuria |journal=Arch. Intern. Med. |volume=131 |issue=2 |pages=257–62 |date=February 1973 |pmid=4682986 |doi= |url=}}</ref> From 1990-1994 several studies were conducted to find out the association between the COL4A3, COL4A4 and COL4A5 gene mutation in long q arm of chromosome 2 and  the recurrence of X-linked and autosomal alport syndrome.<ref name="urlIdentification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome.<ref name="pmid1689491">{{cite journal |vauthors=Hostikka SL, Eddy RL, Byers MG, Höyhtyä M, Shows TB, Tryggvason K |title=Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=87 |issue=4 |pages=1606–10 |date=February 1990 |pmid=1689491 |pmc=53524 |doi=10.1073/pnas.87.4.1606 |url=}}</ref> <ref name="pmid2349482">{{cite journal |vauthors=Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K |title=Identification of mutations in the COL4A5 collagen gene in Alport syndrome |journal=Science |volume=248 |issue=4960 |pages=1224–7 |date=June 1990 |pmid=2349482 |doi=10.1126/science.2349482 |url=}}</ref> <ref name="pmid7987396">{{cite journal |vauthors=Mochizuki T, Lemmink HH, Mariyama M, Antignac C, Gubler MC, Pirson Y, Verellen-Dumoulin C, Chan B, Schröder CH, Smeets HJ |title=Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome |journal=Nat. Genet. |volume=8 |issue=1 |pages=77–81 |date=September 1994 |pmid=7987396 |doi=10.1038/ng0994-77 |url=}}</ref> Mutation in COL4A3 and COL4A4 was found to cause Benign familial hematuria in 1996.<ref name="pmid8787673">{{cite journal |vauthors=Lemmink HH, Nillesen WN, Mochizuki T, Schröder CH, Brunner HG, van Oost BA, Monnens LA, Smeets HJ |title=Benign familial hematuria due to mutation of the type IV collagen alpha4 gene |journal=J. Clin. Invest. |volume=98 |issue=5 |pages=1114–8 |date=September 1996 |pmid=8787673 |doi=10.1172/JCI118893 |url=}}</ref>


==[[Thin basement membrane disease classification|Classification]]==
==[[Thin basement membrane disease classification|Classification]]==
There is no established system for the classification of Thin Basement Membrane Disease.


==[[Thin basement membrane disease pathophysiology|Pathophysiology]]==
==[[Thin basement membrane disease pathophysiology|Pathophysiology]]==
Line 42: Line 40:
==Diagnosis==
==Diagnosis==


[[Thin basement membrane disease history and symptoms|History and Symptoms]] | [[Thin basement membrane disease physical examination|Physical Examination]] | [[Thin basement membrane disease biopsy|Biopsy]] | [[Thin basement membrane disease other diagnostic studies|Other Diagnostic Studies]]
[[Thin basement membrane disease diagnostic study of choice|Diagnostic study of choice]] | [[Thin basement membrane disease history and symptoms|History and Symptoms]] | [[Thin basement membrane disease physical examination|Physical Examination]] | [[Thin basement membrane disease laboratory findings|Laboratory findings]] | [[Thin basement membrane disease electrocardiogram|Electrocardiogram]] | [[Thin basement membrane disease x-ray findings|X-ray Findings]] | [[Thin basement membrane disease echocardiography and ultrasonographic findings|Echocardiography and Ultrasonographic Findings]] |[[Thin basement membrane disease ct scan findings|CT scan findings]] | [[Thin basement membrane disease mri findings|MRI findings]] | [[Thin basement membrane disease biopsy|Biopsy]] | [[Thin basement membrane disease other diagnostic studies|Other Diagnostic Studies]]


==Treatment==
==Treatment==


[[Thin basement membrane disease medical therapy|Medical Therapy]] | [[Thin basement membrane disease primary prevention|Primary Prevention]] | [[Thin basement membrane disease secondary prevention|Secondary Prevention]] | [[Thin basement membrane disease cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Thin basement membrane disease future or investigational therapies|Future or Investigational Therapies]]
[[Thin basement membrane disease medical therapy|Medical Therapy]] | [[Interventions]] | [[Surgery]] | [[Thin basement membrane disease primary prevention|Primary Prevention]] | [[Thin basement membrane disease secondary prevention|Secondary Prevention]] | [[Thin basement membrane disease cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Thin basement membrane disease future or investigational therapies|Future or Investigational Therapies]]


==Case Studies==
==Case Studies==

Latest revision as of 17:34, 15 December 2020

Template:DiseaseDisorder infobox

Thin basement membrane disease Microchapters

Home

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Thin basement membrane disease from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography and Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Thin basement membrane disease On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Thin basement membrane disease

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Thin basement membrane disease

CDC on Thin basement membrane disease

Thin basement membrane disease in the news

Blogs on Thin basement membrane disease

Directions to Hospitals Treating Thin basement membrane disease

Risk calculators and risk factors for Thin basement membrane disease

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

Synonyms and keywords: Thin basement membrane disease[1]; Thin membrane nephropathy[2]; thin GBM nephropathy; thin GBM syndrome; benign familial hematuria [3]; benign familial essential hematuria; congenital hereditary hematuria; hereditary hematuria; familial hematuric nephritis; benign hereditary hematuric nephritis

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Thin basement membrane disease from other Diseases

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

Diagnostic study of choice | History and Symptoms | Physical Examination | Laboratory findings | Electrocardiogram | X-ray Findings | Echocardiography and Ultrasonographic Findings |CT scan findings | MRI findings | Biopsy | Other Diagnostic Studies

Treatment

Medical Therapy | Interventions | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

Template:WH Template:WikiDoc Sources

  1. Takemura T, Yanagida H, Yagi K, Moriwaki K, Okada M (September 2003). "Alport syndrome and benign familial hematuria (thin basement membrane disease) in two brothers of a family with hematuria". Clin. Nephrol. 60 (3): 195–200. doi:10.5414/cnp60195. PMID 14524583.
  2. Nieuwhof CM, de Heer F, de Leeuw P, van Breda Vriesman PJ (May 1997). "Thin GBM nephropathy: premature glomerular obsolescence is associated with hypertension and late onset renal failure". Kidney Int. 51 (5): 1596–601. doi:10.1038/ki.1997.219. PMID 9150478.
  3. Marks MI, Drummond KN (October 1969). "Benign familial hematuria". Pediatrics. 44 (4): 590–3. PMID 4899625.