Germline Mutations for Kidney Volume in ADPKD.
Mayo imaging classification
autosomal dominant polycystic kidney disease
frameshift mutation
germline mutation
kidney volume
splicing mutation
Journal
Kidney international reports
ISSN: 2468-0249
Titre abrégé: Kidney Int Rep
Pays: United States
ID NLM: 101684752
Informations de publication
Date de publication:
Mar 2022
Mar 2022
Historique:
received:
10
11
2021
accepted:
06
12
2021
entrez:
8
3
2022
pubmed:
9
3
2022
medline:
9
3
2022
Statut:
epublish
Résumé
Valid prediction models or predictors of disease progression in children and young patients with autosomal dominant polycystic kidney disease (ADPKD) are lacking. Although total kidney volume (TKV) and Mayo imaging classification are generally used to predict disease progression in patients with ADPKD, it remains unclear whether germline mutation types are associated with these factors. We therefore investigated the association between mutation type and TKV and Mayo imaging classification among patients with ADPKD. A total of 129 patients with ADPKD who underwent genetic analyses were enrolled in the study. The associations between the severity of PKD (TKV ≥ 1000 ml and Mayo classes 1C-1E) and the Among the mutation types, only Kidney cyst severity differs according to the mutation types in
Identifiants
pubmed: 35257066
doi: 10.1016/j.ekir.2021.12.012
pii: S2468-0249(21)01602-8
pmc: PMC8897295
doi:
Types de publication
Journal Article
Langues
eng
Pagination
537-546Informations de copyright
© 2021 International Society of Nephrology. Published by Elsevier Inc.
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