COL4A gene variants are common in children with hematuria and a family history of kidney disease

COL4A gene variants are common in children with hematuria and a family history of kidney disease

Background Inherited kidney diseases are a common cause of chronic kidney disease (CKD) in children. Identification of a monogenic cause of CKD is more common in children than in adults. This study evaluated the diagnostic yield and phenotypic spectrum of children who received genetic testing throug...

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Veröffentlicht in:Pediatric nephrology (Berlin, West) West), 2023-11, Vol.38 (11), p.3625-3633
Hauptverfasser: Rheault, Michelle N., McLaughlin, Heather M., Mitchell, Asia, Blake, Lauren E., Devarajan, Prasad, Warady, Bradley A., Gibson, Keisha L., Lieberman, Kenneth V.
Format: Artikel
Sprache:eng
Schlagworte:
Alport syndrome
Analysis
Biopsy
Children
Chronic kidney failure
Demographic aspects
Diagnosis
Families & family life
Family medical history
Genetic aspects
Genetic screening
Genetic testing
Genetic variation
Hematuria
Kidney diseases
Medicine
Medicine & Public Health
Nephrology
Original Article
Pediatrics
Risk factors
Urology
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Zusammenfassung:Background Inherited kidney diseases are a common cause of chronic kidney disease (CKD) in children. Identification of a monogenic cause of CKD is more common in children than in adults. This study evaluated the diagnostic yield and phenotypic spectrum of children who received genetic testing through the KIDNEYCODE sponsored genetic testing program. Methods Unrelated children 
ISSN:0931-041X
1432-198X
DOI:10.1007/s00467-023-05993-z