COL4A gene variants are common in children with hematuria and a family history of kidney disease.
Document Type
Article
Publication Date
11-2023
Identifier
DOI: 10.1007/s00467-023-05993-z
Abstract
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 < 18 years of age who received panel testing through the KIDNEYCODE sponsored genetic testing program from September 2019 through August 2021 were included (N = 832). Eligible children met at least one of the following clinician-reported criteria: estimated GFR ≤ 90 ml/min/1.73 m
RESULTS: A positive genetic diagnosis was observed in 234 children (28.1%, 95% CI [25.2-31.4%]) in genes associated with Alport syndrome (N = 213), FSGS (N = 9), or other disorders (N = 12). Among children with a family history of kidney disease, 30.8% had a positive genetic diagnosis. Among those with hematuria and a family history of CKD, the genetic diagnostic rate increased to 40.4%.
CONCLUSIONS: Children with hematuria and a family history of CKD have a high likelihood of being diagnosed with a monogenic cause of kidney disease, identified through KIDNEYCODE panel testing, particularly COL4A variants. Early genetic diagnosis can be valuable in targeting appropriate therapy and identification of other at-risk family members. A higher resolution version of the Graphical abstract is available as Supplementary information.
Journal Title
Pediatric nephrology (Berlin, Germany)
Volume
38
Issue
11
First Page
3625
Last Page
3633
MeSH Keywords
Adult; Humans; Child; Hematuria; Glomerulosclerosis, Focal Segmental; Nephritis, Hereditary; Collagen Type IV; Renal Insufficiency, Chronic
Keywords
Alport syndrome; Focal segmental glomerulosclerosis; Genetic testing; Hematuria
Recommended Citation
Rheault MN, McLaughlin HM, Mitchell A, et al. COL4A gene variants are common in children with hematuria and a family history of kidney disease. Pediatr Nephrol. 2023;38(11):3625-3633. doi:10.1007/s00467-023-05993-z
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