ArticleKidney international reports2025
Whole Exome Sequencing in Chinese Pediatric Patients With Nephrolithiasis.
Article in Kidney international reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- From Heterogeneity to Precision in Urinary Stone Disease: Who to Test, When, and with What.Clinical journal of the American Society of Nephrology : CJASN · 2025Article
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11 authors.
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Abstract
Introduction: The incidence of pediatric nephrolithiasis has been increasing, and the role of genetic factors has garnered attention in recent years. This study aimed to explore the genetic basis underlying pediatric nephrolithiasis in Chinese population. Methods: Whole exome sequencing (WES) was conducted in a consecutive cohort of 456 children over a 11-year period. Clinical and genetic data were systematically collected, analyzed, and comprehensively compared. Results: Average age was 4.2 years with a male-to-female ratio of 2.2. A total of 260 causative variants in 16 genes were identified in 141 children, resulting in a positive molecular diagnosis rate of 31%. Of the causative variants, 43% were novel. The most prevalent diagnoses were primary hyperoxaluria (PH) ( Conclusion: A genetic etiology was identified in 141 of 456 of pediatric patients (31%) with nephrolithiasis in a Chinese cohort. A positive molecular diagnosis is a risk factor for severe clinical presentation of pediatric nephrolithiasis. WES has the potential to be used to confirm or even modify clinical diagnoses, thereby facilitating individualized therapeutic and preventive interventions.
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