X-Linked Kidney Disorders in Women

Catherine Quinlan; Michelle N Rheault

doi:10.1016/j.semnephrol.2022.04.002

X-Linked Kidney Disorders in Women

Semin Nephrol. 2022 Mar;42(2):114-121. doi: 10.1016/j.semnephrol.2022.04.002.

Authors

Catherine Quinlan¹, Michelle N Rheault²

Affiliations

¹ Department of Nephrology, Royal Children's Hospital, Melbourne, Victoria, Australia; Department of Kidney Regeneration, Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
² Division of Pediatric Nephrology, Department of Pediatrics, University of Minnesota Masonic Children's Hospital, Minneapolis, MN. Electronic address: rheau002@umn.edu.

PMID: 35718359
DOI: 10.1016/j.semnephrol.2022.04.002

Abstract

A number of genes that cause inherited kidney disorders reside on the X chromosome. Given that males have only a single active X chromosome, these disorders clinically manifest primarily in men and boys. However, phenotypes in female carriers of X-linked kidney conditions are becoming more and more recognized. This article reviews the biology of X inactivation as well as the kidney phenotype in women and girls with a number of X-linked kidney disorders including Alport syndrome, Fabry disease, nephrogenic diabetes insipidus, X-linked hypophosphatemic rickets, Dent disease, and Lowe syndrome.

Keywords: Alport syndrome; Dent disease; Fabry disease; Lowe syndrome; X-inactivation; X-linked hypophosphatemic rickets; nephrogenic diabetes insipidus.

Publication types

Review

MeSH terms

Diabetes Insipidus, Nephrogenic* / genetics
Fabry Disease* / genetics
Female
Humans
Kidney
Male
Mutation
Nephritis, Hereditary* / genetics
Phenotype