ArticleClinical genetics2019
Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system.
Article in Clinical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 1 of them a synthesis that pooled it.
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51 citing papers in PubMed, 1 synthesis or guideline pooled it, 91 citations in OpenAlex.
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- The utility and advantages of exome and genome sequencing in pediatric kidney disease diagnosis.Childhood kidney diseases · 2026Review
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- Uromodulin p.His36Tyr promotes macrophage pyroptosis via App-Cd74 signaling to drive renal inflammation in ADTKD.Nature communications · 2026Article
- A Whole-Exome Sequencing-Based Exploration of Chronic Kidney Disease of Unknown Etiology (CKDu) in an Endemic Population in Sri Lanka.International journal of molecular sciences · 2026Article
- Phenotype-Driven Next-Generation Sequencing and Structure-Based In Silico Analysis Reveal Disease-Specific Diagnostic Yield and Genotype-Phenotype Correlations in Inherited Kidney Diseases.Life (Basel, Switzerland) · 2026Article
- Multidisciplinary approach to the assessment and management of children with Fabry disease: Insights from the Chinese Children Genetic Kidney Disease Database.Intractable & rare diseases research · 2026Article
- Genetic screening in kidney transplant candidates.Clinical kidney journal · 2026Article
- Deciphering the complexity: a case of kidney failure with co-inheritance of COL4A5 and APOE variants.BMC nephrology · 2026Article
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- Coenzyme Q10 supplementation in adult-onset focal segmental glomerulosclerosis caused by the Chinese common pathogenic variant c.737G > A (p.Ser246Asn) in theRenal failure · 2025Article
- Exploring genotype-phenotype correlation in nucleoporin nephropathy.Pediatric research · 2025Article
- Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.Kidney international reports · 2025Article
- Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.Human genetics · 2025Article
- [Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- Protein-losing enteropathy as a new phenotype in atypical hemolytic uremic syndrome caused by CD46 gene mutation.Pediatric nephrology (Berlin, Germany) · 2024Review
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50 authors at 20 institutions in 4 countries.
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No grant is acknowledged in the PubMed record.
Abstract
To explore the approaches and diagnostic yield of genetic testing for renal disease in children, we describe the genotype and phenotype of the national cohort of children with renal disease from 13 different regions of China recruited from 2014 to 2018 by building up the multicenter registration system (Chinese Children Genetic Kidney Disease Database, CCGKDD). Genetic diagnosis was confirmed in 42.1% of our cohort of 1001 pediatric patients with clinical suspicion of a genetic renal disease. Of the 106 distinct monogenetic disorders detected, 15 accounted for 60.7% of genetic diagnoses. The diagnostic yield was 29.1% in steroid resistant nephritic syndrome (SRNS), 61.4% in cystic renal disease, 17.0% in congenital anomalies of the kidney and urinary tract (CAKUT), 62.3% in renal tubular disease/renal calcinosis, and 23.9% for chronic kidney disease (CKD) 3 to 5 stage with unknown origin. Genetic approaches of target gene sequence (TGS), singleton whole-exome sequencing (WES) and trio-WES were performed with diagnostic rates of 44.8%, 36.2%, and 42.6%, respectively. The early use of trio-WES could improve the diagnostic rate especially in renal tubular disease and calcinosis. We report the genetic spectrum of Chinese children with renal disease. Establishment of the CCGKDD will improve the genetic work on renal disease.
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