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

Catherine Quinlan, Michelle N. Rheault

Pediatrics - Nephrology

Research output: Contribution to journal › Review article › peer-review

4 Scopus citations

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.

Original language	English (US)
Pages (from-to)	114-121
Number of pages	8
Journal	Seminars in nephrology
Volume	42
Issue number	2
DOIs	https://doi.org/10.1016/j.semnephrol.2022.04.002
State	Published - Mar 2022

Bibliographical note

Funding Information:
Financial disclosure and conflict of interest statements: none.

Publisher Copyright:
© 2022 Elsevier Inc.

Keywords

Alport syndrome
Dent disease
Fabry disease
Lowe syndrome
X-inactivation
X-linked hypophosphatemic rickets
nephrogenic diabetes insipidus

PubMed: MeSH publication types

Journal Article
Review

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access

10.1016/j.semnephrol.2022.04.002

OpenUrl availability

Full text

Cite this

@article{29a8c78e573c480c8680b531e3441819,

title = "X-Linked Kidney Disorders in Women",

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",

author = "Catherine Quinlan and Rheault, {Michelle N.}",

note = "Funding Information: Financial disclosure and conflict of interest statements: none. Publisher Copyright: {\textcopyright} 2022 Elsevier Inc.",

year = "2022",

month = mar,

doi = "10.1016/j.semnephrol.2022.04.002",

language = "English (US)",

volume = "42",

pages = "114--121",

journal = "Seminars in nephrology",

issn = "0270-9295",

publisher = "W.B. Saunders Ltd",

number = "2",

}

TY - JOUR

T1 - X-Linked Kidney Disorders in Women

AU - Quinlan, Catherine

AU - Rheault, Michelle N.

PY - 2022/3

Y1 - 2022/3

N2 - 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.

AB - 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.

KW - Alport syndrome

KW - Dent disease

KW - Fabry disease

KW - Lowe syndrome

KW - X-inactivation

KW - X-linked hypophosphatemic rickets

KW - nephrogenic diabetes insipidus

UR - http://www.scopus.com/inward/record.url?scp=85129981525&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85129981525&partnerID=8YFLogxK

U2 - 10.1016/j.semnephrol.2022.04.002

DO - 10.1016/j.semnephrol.2022.04.002

M3 - Review article

C2 - 35718359

AN - SCOPUS:85129981525

SN - 0270-9295

VL - 42

SP - 114

EP - 121

JO - Seminars in nephrology

JF - Seminars in nephrology

IS - 2

ER -

X-Linked Kidney Disorders in Women

Abstract

Bibliographical note

Keywords

PubMed: MeSH publication types

UN SDGs

Access

OpenUrl availability

Other files and links

Fingerprint

Cite this