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Alport syndrome
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Alport syndrome

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Contributors: Catherine Moore MD
Other Resources UpToDate PubMed

Synopsis

Genetic disorder of the basement membrane, resulting from mutations in genes that encode the alpha- 3, alpha-4, and alpha-5 chains of type IV collagen. The resulting structural basement membrane abnormalities lead to progressive dysfunction of the glomerular filtration barrier, sensorineural hearing loss, and ocular defects. The most common mutation is in the COL4A5 gene, inherited in an X-linked manner. The majority of affected individuals will experience progressive renal insufficiency. The initial manifestation is microscopic hematuria in childhood, which ultimately progresses to proteinuria and glomerular filtration rate decline.

Codes

ICD10CM:
Q87.81 – Alport syndrome

SNOMEDCT:
236420000 – Alport syndrome-like hereditary nephritis

Differential Diagnosis & Pitfalls

Differential diagnosis of early onset persistent hematuria:
  • IgA nephropathy – usually no family history in this case
  • Thin basement membrane disease – would not see renal function decline or proteinuria in this case

Best Tests

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References

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Last Updated: 09/16/2016
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Alport syndrome
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Alport syndrome : Proteinuria, Gross hematuria
Copyright © 2018 VisualDx®. All rights reserved.