U.S. flag

An official website of the United States government


Send to:

Choose Destination

Collagen IV-related nephropathies

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Collagen IV-Related Nephropathies (Alport Syndrome and Thin Basement Membrane Nephropathy)
Related genes: COL4A5, COL4A4, COL4A3

Disease characteristics

Excerpted from the GeneReview: Alport Syndrome
In Alport syndrome (AS) a spectrum of phenotypes ranging from progressive renal disease with extrarenal abnormalities to isolated hematuria with a non-progressive or very slowly progressive course is observed. Approximately two thirds of AS is X-linked (XLAS); approximately 15% is autosomal recessive (ARAS), and approximately 20% is autosomal dominant (ADAS). In the absence of treatment, renal disease progresses from microscopic hematuria (microhematuria) to proteinuria, progressive renal insufficiency, and end-stage renal disease (ESRD) in all males with XLAS, and in all males and females with ARAS. Progressive sensorineural hearing loss (SNHL) is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In individuals with ADAS, ESRD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare. [from GeneReviews]
Clifford E Kashtan   view full author information

Recent clinical studies


Lin F, Bian F, Zou J, Wu X, Shan J, Lu W, Yao Y, Jiang G, Gale DP
BMC Nephrol 2014 Nov 7;15:175. doi: 10.1186/1471-2369-15-175. PMID: 25381091Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...