ArticleNephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association2022
Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.
Article in Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 17 citations in OpenAlex.
- [Clinical phenotype and genetic analysis of 7 neonates with CHARGE syndrome caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- Interpretable machine learning model for predicting kidney failure among CAKUT children in multicenter large-scale study.NPJ digital medicine · 2026Article
- Fetal Multicystic Dysplastic Kidney and Its Effect on Post-natal Quality of Life: A Literature Review.Cureus · 2026Review
- Whole Exome Sequencing Reveals Promising Genes Associated with Congenital Renal Parenchymal Anomalies in Greek Children.Children (Basel, Switzerland) · 2026Article
- A case of giant renal angiomyolipoma and diabetic nephropathy with abnormalities in the genes TSC2 and HNF1B.CEN case reports · 2026Article
- Clinical and prognostic characteristics of renal hypodysplasia in children: insights from a 10-year single-center cohort.Pediatric nephrology (Berlin, Germany) · 2026Article
- Presentation of Patients With Congenital Anomalies of the Kidney and Urinary Tract andKidney international reports · 2025Article
- A de novo SALL4 mutation causes unilateral renal agenesis by misregulating genes involved in kidney development.Orphanet journal of rare diseases · 2025Article
- Genes, kidneys, and the future: transforming chronic kidney disease management through genomic insights.Childhood kidney diseases · 2025Review
- Epidemiology and disease burden of pediatric congenital anomalies of the kidney and urinary tract: a national cross-sectional study of hospitalized children in China.World journal of pediatrics : WJP · 2025Article
- Identification of a novel SALL4 variant associated with unilateral renal agenesis and right renal pelvis duplication by prenatal exome sequencing: a case report.Frontiers in pediatrics · 2025Article
- Maternal diseases and congenital anomalies of the kidney and urinary tract in offspring: a cohort study.World journal of pediatrics : WJP · 2024Article
- Assessment of Kidney Function Discrepancies in Pediatric CAKUT Patients Using Bedside Schwartz Equation and Renal Scintigraphy.Diseases (Basel, Switzerland) · 2024Article
- Expression of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) Candidate GenesGenes · 2024Article
- GEN1 as a risk factor for human congenital anomalies of the kidney and urinary tract.Human genomics · 2024Article
- Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project.Kidney international reports · 2023Article
- Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life.Kidney international reports · 2023Article
- Review
- Association between glomerular C4d deposition, proteinuria, and disease severity in children with IgA nephropathy.Pediatric nephrology (Berlin, Germany) · 2023Article
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Authors and funding
25 authors at 15 institutions in 1 country.
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Abstract
backgroundCongenital anomalies of the kidney and urinary tracts (CAKUT) are the leading cause of kidney failure in children with phenotypic and genotypic heterogeneity. Our objective was to describe the genetic spectrum and identify the risk factors for kidney failure in children with CAKUT.
methodsClinical and genetic data were derived from a multicenter network (Chinese Children Genetic Kidney Disease Database, CCGKDD) and the Chigene database. A total of 925 children with CAKUT who underwent genetic testing from 2014 to 2020 across China were studied. Data for a total of 584 children wereobtained from the CCGKDD, including longitudinal data regarding kidney function. The risk factors for kidney failure were determined by the Kaplan-Meier method and Cox proportional hazards models.
resultsA genetic diagnosis was established in 96 out of 925 (10.3%) children, including 72 (8%) with monogenic variants, 20 (2%) with copy number variants (CNVs), and 4 (0.4%)with major chromosomal anomalies. Patients with skeletal abnormalities were more likely to have large CNVs or abnormal karyotypes than monogenic variants. Eighty-two patients from the CCGKDD progressed to kidney failure at a median age of 13.0 (95% confidence interval, 12.4-13.6) years, and twenty-four were genetically diagnosed with variants of PAX2, TNXB, EYA1, HNF1B and GATA3 or the 48, XXYY karyotype. The multivariate analysis indicated that solitary kidney, posterior urethral valves, bilateral hypodysplasia, the presence of certain variants and premature birth were independent prognostic factors.
conclusionsThe genetic spectrum of CAKUT varies among different subphenotypes. The identified factors indicate areas that require special attention.
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