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 throu...
| Publicado en: | Pediatric Nephrology Vol. 38; no. 11; pp. 3625 - 3634 |
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| Autores principales: | , , , , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Springer Nature
Nov2023
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=172285012&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 172285012 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 0931041X EF1 jtl: Pediatric Nephrology issn: 0931041X maglogo: N pubinfo: dt: Nov2023 vid: 38 iid: 11 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 172285012 163787469 172285012 172285012 10.1007/s00467-023-05993-z 172285012 ppf: 3625 ppct: 9 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: COL4A gene variants are common in children with hematuria and a family history of kidney disease. aug: au: Rheault, Michelle N. McLaughlin, Heather M. Mitchell, Asia Blake, Lauren E. Devarajan, Prasad Warady, Bradley A. Gibson, Keisha L. Lieberman, Kenneth V. affil: Masonic Children's Hospital, University of Minnesota, Minneapolis, MN, USA sug: subj: Hematuria In Infancy and Childhood Family History Kidney Diseases Familial and Genetic Genes Genetic Screening Human Male Female Infant, Newborn Infant Child, Preschool Child Adolescence Glomerular Filtration Rate Nephritis, Hereditary Glomerulosclerosis, Focal Segmental Confidence Intervals Infant, Newborn: birth-1 month Infant: 1-23 months Child, Preschool: 2-5 years Child: 6-12 years Adolescent: 13-18 years Male Female ab: 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 m2, hematuria, a family history of kidney disease, or suspected or biopsy confirmed Alport syndrome or focal segmental glomerulosclerosis (FSGS) in the tested individual or family member. 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 pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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