Exploring Key Challenges of Understanding the Pathogenesis of Kidney Disease in Bardet-Biedl Syndrome.
Bardet–Biedl syndrome
ciliopathies
genetics
kidney disease
physiopathology
Journal
Kidney international reports
ISSN: 2468-0249
Titre abrégé: Kidney Int Rep
Pays: United States
ID NLM: 101684752
Informations de publication
Date de publication:
Sep 2020
Sep 2020
Historique:
received:
29
04
2020
revised:
04
06
2020
accepted:
17
06
2020
entrez:
21
9
2020
pubmed:
22
9
2020
medline:
22
9
2020
Statut:
epublish
Résumé
Bardet-Biedl syndrome (BBS) is a rare pleiotropic inherited disorder known as a ciliopathy. Kidney disease is a cardinal clinical feature; however, it is one of the less investigated traits. This study is a comprehensive analysis of the literature aiming to collect available information providing mechanistic insights into the pathogenesis of kidney disease by analyzing clinical and basic science studies focused on this issue. The analysis revealed that the syndrome is either clinically and genetically heterogenous, with 24 genes discovered to date, but with 3 genes (
Identifiants
pubmed: 32954066
doi: 10.1016/j.ekir.2020.06.017
pii: S2468-0249(20)31340-1
pmc: PMC7486190
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
1403-1415Informations de copyright
© 2020 International Society of Nephrology. Published by Elsevier Inc.
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