X-Linked Kidney Disorders in Women

  • Catherine Quinlan
    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
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  • Michelle N. Rheault
    Address reprint requests to Michelle N. Rheault, MD, Division of Pediatric Nephrology, University of Minnesota Masonic Children's Hospital, 2450 Riverside Ave, AO-201, Minneapolis, MN 55454.
    Division of Pediatric Nephrology, Department of Pediatrics, University of Minnesota Masonic Children's Hospital, Minneapolis, MN
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      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.


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