Genetic Etiologies, Diagnosis, and Management of Neonatal Cystic Kidney Disease.
Journal
NeoReviews
ISSN: 1526-9906
Titre abrégé: Neoreviews
Pays: United States
ID NLM: 101085360
Informations de publication
Date de publication:
01 03 2022
01 03 2022
Historique:
entrez:
1
3
2022
pubmed:
2
3
2022
medline:
23
3
2022
Statut:
ppublish
Résumé
Fetal kidney development is a complex and carefully orchestrated process. The proper formation of kidney tissue involves many transcription factors and signaling pathways. Pathogenic variants in the genes that encodethese factors and proteins can result in neonatal cystic kidney disease. Advancements in genomic sequencing have allowed us to identify many of these variants and better understand the genetic underpinnings for an increasing number of presentations of childhood kidney disorders. This review discusses the genes essential in kidney development, particularly those involved in the structure and function of primary cilia, and implications of gene identification for prognostication and management of cystic kidney disorders.
Identifiants
pubmed: 35229136
pii: 185194
doi: 10.1542/neo.23-3-e175
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
e175-e188Informations de copyright
Copyright © 2022 by the American Academy of Pediatrics.
Déclaration de conflit d'intérêts
AUTHOR DISCLOSURES Dr Harris works under a grant from Otsuka Pharmaceuticals and is a consultant for Otsuka, Mitobridge, Regulus, and Vertex. Drs Heidenreich, Bendel-Stenzel, and Hanna have disclosed no financial relationships relevant to this article. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.