Diagnosis of Kidney Diseases of Unknown Etiology Through Biopsy-Genetic Analysis.
alport disease
exome
inherited kidney disease
nephrogenomic
renal pathology
undetermined kidney disease
Journal
Kidney international reports
ISSN: 2468-0249
Titre abrégé: Kidney Int Rep
Pays: United States
ID NLM: 101684752
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
received:
14
03
2023
revised:
29
06
2023
accepted:
11
07
2023
medline:
18
10
2023
pubmed:
18
10
2023
entrez:
18
10
2023
Statut:
epublish
Résumé
Previous studies have suggested that genetic kidney diseases in adults are often overlooked, representing up to 10% of all cases of chronic kidney disease (CKD). We present data obtained from exome sequencing (ES) analysis of patients with biopsy-proven undetermined kidney disease (UKD). ES was proposed during routine clinical care in patients with UKD from January 2020 to December 2021. We used We detected 12 monogenic renal disorders in 21 (40.4%) patients. The most common diagnoses were collagenopathies (8/21,38.1%), ES done in patients with biopsy-proven UKD should be considered as a first-line tool for CKD patients with a family history of kidney disease. Combination of ES and kidney biopsy may have major impacts on kidney disease ontology.
Identifiants
pubmed: 37850010
doi: 10.1016/j.ekir.2023.07.003
pii: S2468-0249(23)01381-5
pmc: PMC10577324
doi:
Types de publication
Journal Article
Langues
eng
Pagination
2077-2087Informations de copyright
© 2023 International Society of Nephrology. Published by Elsevier Inc.
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