The KIDNEYCODE Program: Diagnostic Yield and Clinical Features of Individuals with CKD.
Alport syndrome
CKD
FSGS
PKD
eGFR
genetic testing
genetics
hematuria
kidney biopsy
Journal
Kidney360
ISSN: 2641-7650
Titre abrégé: Kidney360
Pays: United States
ID NLM: 101766381
Informations de publication
Date de publication:
26 05 2022
26 05 2022
Historique:
received:
23
06
2021
accepted:
14
02
2022
entrez:
21
9
2022
pubmed:
22
9
2022
medline:
24
9
2022
Statut:
epublish
Résumé
Despite increasing recognition that CKD may have underlyi ng genetic causes, genetic testing remains limited. This study evaluated the diagnostic yield and phenotypic spectrum of CKD in individuals tested through the KIDNEYCODE sponsored genetic testing program. Unrelated individuals who received panel testing (17 genes) through the KIDNEYCODE sponsored genetic testing program were included. Individuals had to meet at least one of the following eligibility criteria: eGFR ≤90 ml/min per 1.73m Among 859 individuals, 234 (27%) had molecular diagnoses in genes associated with Alport syndrome ( Although skewed to identify individuals with Alport syndrome, these findings support the need to improve access to genetic testing for patients with CKD-particularly in the context of family history of kidney disease, hematuria, and hearing loss.
Sections du résumé
Background
Despite increasing recognition that CKD may have underlyi ng genetic causes, genetic testing remains limited. This study evaluated the diagnostic yield and phenotypic spectrum of CKD in individuals tested through the KIDNEYCODE sponsored genetic testing program.
Methods
Unrelated individuals who received panel testing (17 genes) through the KIDNEYCODE sponsored genetic testing program were included. Individuals had to meet at least one of the following eligibility criteria: eGFR ≤90 ml/min per 1.73m
Results
Among 859 individuals, 234 (27%) had molecular diagnoses in genes associated with Alport syndrome (
Conclusions
Although skewed to identify individuals with Alport syndrome, these findings support the need to improve access to genetic testing for patients with CKD-particularly in the context of family history of kidney disease, hematuria, and hearing loss.
Identifiants
pubmed: 36128480
doi: 10.34067/KID.0004162021
pii: 02200512-202205000-00014
pmc: PMC9438426
doi:
Substances chimiques
Collagen Type IV
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
900-909Informations de copyright
Copyright © 2022 by the American Society of Nephrology.
Déclaration de conflit d'intérêts
A.R. Chang reports being a scientific advisor to, and receiving an honorarium from, Reata Pharmaceuticals, Inc. A. Mitchell, A. Morales, B.A. Johnson, K. Robinson, S.L. Bristow, and S. Aradhya report being employed by and being shareholders in Invitae. B.A. Warady reports being an advisor to, and receiving honoraria from, Reata Pharmaceuticals, Inc. G.A. Block reports being a former employee of Reata Pharmaceuticals, Inc., and reports being employed by US Renal Care. J.A. McKay and S. McCalley report being employees of Reata Pharmaceuticals, Inc. K. Gibson reports serving as a consultant for and receiving research support from Aurinia and Travere, Inc. (formerly Retrophin, Inc.); and reports serving as a consultant for Reata Pharmaceuticals, Inc. K.V. Lieberman reports receiving honoraria from Reata Pharmaceuticals, Inc. P. Devrajan reports being an advisor to Alnylam Pharmaceuticals, Inc., BioPorto Diagnostics, Inc., Dicerna Pharmaceuticals, Inc., Natera, Inc., Reata Pharmaceuticals, Inc., and UpToDate, Inc.; and reports receiving research support from the National Institutes of Health (P50DK096418). KIDNEYCODE was offered through a sponsored genetic program by Reata Pharmaceuticals and Invitae.
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