Women and Alport syndrome

Research output: Contribution to journalReview article

35 Citations (Scopus)

Abstract

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
Volume27
Issue number1
DOIs
StatePublished - Jan 1 2012

Fingerprint

Hereditary Nephritis
Kidney
Chronic Kidney Failure
Eye Abnormalities
X Chromosome Inactivation
Urinalysis
Collagen Type IV
Sensorineural Hearing Loss
Deafness
Kidney Transplantation
Tissue Donors
Mutation

Keywords

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

Cite this

Women and Alport syndrome. / Rheault, Michelle N.

In: Pediatric Nephrology, Vol. 27, No. 1, 01.01.2012, p. 41-46.

Research output: Contribution to journalReview article

Rheault, Michelle N. / Women and Alport syndrome. In: Pediatric Nephrology. 2012 ; Vol. 27, No. 1. pp. 41-46.
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