Alport syndrome
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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:
770414008 – Alport syndrome
Q87.81 – Alport syndrome
SNOMEDCT:
770414008 – Alport syndrome
Differential Diagnosis & Pitfalls
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Last Updated:03/01/2016
Alport syndrome