Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.

end-stage kidney disease genetic variant severity genotype-phenotype correlations kidney survival nephronophthisis prognostic factors

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 2022

Historique:

received: 25 05 2022

accepted: 30 05 2022

entrez: 12 9 2022

pubmed: 13 9 2022

medline: 13 9 2022

Statut: epublish

Résumé

Nephronophthisis (NPH) comprises a group of rare disorders accounting for up to 10% of end-stage kidney disease (ESKD) in children. Prediction of kidney prognosis poses a major challenge. We assessed differences in kidney survival, impact of variant type, and the association of clinical characteristics with declining kidney function. Data was obtained from 3 independent sources, namely the network for early onset cystic kidney diseases clinical registry ( A total of 383 individuals were available for analysis: 116 The presented data will enable clinicians to better estimate kidney prognosis of distinct patients with NPH and thereby allow personalized counseling.

Identifiants

DOI: 10.1016/j.ekir.2022.05.035 PMID: 36090483 PMC: PMC9459005

pubmed: 36090483

doi: 10.1016/j.ekir.2022.05.035

pii: S2468-0249(22)01437-1

pmc: PMC9459005

doi:

Types de publication

Journal Article

Langues

eng

Pagination

2016-2028

Investigateurs

P Antczak (P)

J Birtel (J)

C Bergmann (C)

M Cetiner (M)

M Dahmer-Heath (M)

J Drube (J)

J Gerß (J)

D Haffner (D)

T Illig (T)

I Kamp-Becker (I)

N Klopp (N)

S Kollmann (S)

J König (J)

M Konrad (M)

M C Liebau (MC)

C Nittel (C)

C Okorn (C)

H Omran (H)

L Pape (L)

P Pennekamp (P)

F Schäfer (F)

B Schermer (B)

H Storf (H)

J Vasseur (J)

S Weber (S)

K Wohlgemuth (K)

W Ziegler (W)

C Gimpel (C)

J Göbel (J)

B Schlevogt (B)

Informations de copyright

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