An Update on Women and Girls with Alport Syndrome

Daniella Levy Erez, Michelle N. Rheault

Research output: Contribution to journalReview articlepeer-review

Abstract

Purpose of Review: Alport syndrome is a progressive, hereditary disorder of basement membranes. X-linked Alport syndrome is the most common type and typically leads to kidney failure in boys and men. For many years, the symptoms and signs of disease in women have been overlooked. We review the manifestations of Alport syndrome in women including the variability of kidney and extrarenal findings by genotype. Recent Findings: Recent publications suggest classifying women who are heterozygous for mutations in COL4A3, COL4A4, or COL4A5 as having Alport syndrome. This facilitates early diagnosis and treatment if indicated. The risk of kidney failure varies significantly by genotype and treatment recommendations reflect these differences in risk. Recent publications support early treatment of women with Alport syndrome with renin–angiotensin–aldosterone inhibition to slow the progression of kidney disease. Summary: Women and girls with Alport syndrome are at risk for chronic kidney disease and even kidney failure and require monitoring and treatment similar to men and boys with X-linked Alport syndrome. Understanding the differences in expected outcomes depending on genotype is vital to provide counseling to women about future risk and how to mitigate this risk.

Original languageEnglish (US)
JournalCurrent Pediatrics Reports
DOIs
StateAccepted/In press - 2022

Bibliographical note

Publisher Copyright:
© 2022, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.

Keywords

  • Alport syndrome
  • Hearing loss
  • Hematuria
  • Proteinuria
  • X-inactivation

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