ArticlePediatric nephrology (Berlin, Germany)2023
COL4A gene variants are common in children with hematuria and a family history of kidney disease.
Article in Pediatric nephrology (Berlin, Germany), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- Review
- Genetic diagnosis of hereditary kidney disease in pediatric patients through whole-exome sequencing and mitochondrial DNA analysis.Kidney research and clinical practice · 2026Article
- A 15-year experience highlighting the spectrum of Alport kidney disease in the pediatric population and novel genetic variants in COL4A3-5.Pediatric nephrology (Berlin, Germany) · 2025Article
- Detection of Alport gene variants in children and young people with persistent haematuria.Pediatric nephrology (Berlin, Germany) · 2025Article
- Noninvasive genetic testing for type IV collagen nephropathy using oral mucosa DNA sampling in children with haematuria.Renal failure · 2024Article
- Article
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundInherited 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.
methodsUnrelated 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
resultsA 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%.
conclusionsChildren 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.
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