Whole Exome Sequencing in Chinese Pediatric Patients With Nephrolithiasis
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.
Authors
- Hui Quan
- Youquan Zhao
- Sujuan Zhao (ORCID: https://orcid.org/0000-0002-7057-2413)
- Fangzhou Zhao (ORCID: https://orcid.org/0000-0001-9124-0138)
- Boyu Yang (ORCID: https://orcid.org/0000-0002-0222-8071)
- Yining Zhao (ORCID: https://orcid.org/0000-0002-4138-4376)
- Hongquan Geng (ORCID: https://orcid.org/0000-0003-4722-416X)
- Xiaochuan Wang (ORCID: https://orcid.org/0000-0003-3768-324X)
- Minglei Li (ORCID: https://orcid.org/0000-0002-1274-2605)
- Ye Tian (ORCID: https://orcid.org/0000-0001-6703-5601)
- Jun Li (ORCID: https://orcid.org/0000-0002-1285-6514)
Institutions
- Qingdao University (CN)
- Capital Medical University (CN)
- Peking University (CN)
- XinHua Hospital (CN)
- Yuhuangding Hospital (CN)
- Peking University First Hospital (CN)
- Beijing Friendship Hospital (CN)
- Children's Hospital of Fudan University (CN)
Publication Details
- Journal
- Kidney International Reports
- Published
- 2025-05-01
- DOI
- https://doi.org/10.1016/j.ekir.2025.04.056
- Citations
- 1
- Primary Topic
- Kidney Stones and Urolithiasis Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.52