Women and Alport syndrome

Research output: Contribution to journalReview articlepeer-review

45 Scopus citations


X-linked Alport syndrome (XLAS) is caused by mutations in type IV collagen causing sensorineural hearing loss, eye abnormalities, and progressive kidney dysfunction that results in near universal end-stage renal disease (ESRD) and the need for kidney transplantation in affected males. Until recent decades, the disease burden in heterozygous "carrier" females was largely minimized or ignored. Heterozygous females have widely variable disease outcomes, with some affected females exhibiting normal urinalysis and kidney function, while others develop ESRD and deafness. While the determinants of disease severity in females with XLAS are uncertain, skewing of X-chromosome inactivation has recently been found to play a role. This review will explore the natural history of heterozygous XLAS females, the determinants of disease severity, and the utility of using XLAS females as kidney donors.

Original languageEnglish (US)
Pages (from-to)41-46
Number of pages6
JournalPediatric Nephrology
Issue number1
StatePublished - Jan 1 2012


  • Alport syndrome
  • Familial nephritis
  • Glomerular basement membrane
  • Kidney transplantation
  • Type IV collagen
  • X-chromosome inactivation


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