From mutation to symptoms: a multi-center study on HNF1B-related nephropathy in Chinese children
Our results suggest a potential trend wherein the 17q12 deletion may be associated with a higher prevalence of developmental renal anomalies, while HNF1B pathogenic variants might correlate with an increased risk of tubular dysfunction, indicating possible distinct genotype-phenotype correlations. Based on these observations, we recommend that affected families receive tailored clinical management, including prenatal counseling, genotype-specific monitoring, and regular renal function assessment.
Authors
- Aihua Zhang (ORCID: https://orcid.org/0000-0003-2949-4633)
- Xiaowen Wang (ORCID: https://orcid.org/0000-0002-5374-7832)
- Rufeng Dai
- Lin Huang (ORCID: https://orcid.org/0000-0001-6531-6987)
- H Y Zhang
- Qian Shen (ORCID: https://orcid.org/0000-0003-3056-6737)
- Chunyan Wang (ORCID: https://orcid.org/0000-0003-2428-8494)
- Hong Xu (ORCID: https://orcid.org/0000-0002-9085-9542)
- XM Jiang (ORCID: https://orcid.org/0000-0002-8012-1739)
- Jiaojiao Liu (ORCID: https://orcid.org/0000-0002-8662-1689)
- Xiaoshan Tang
- Huihui Yang
- Xiaojie Gao
- Panli Liao
- Jialu Liu
Institutions
- Sun Yat-sen University (CN)
- Kidney Research UK (GB)
- The First Affiliated Hospital, Sun Yat-sen University (CN)
- Second Affiliated Hospital of Nanjing Medical University (CN)
- Kidney Associates (US)
- Wuhan Children's Hospital (CN)
- Shenzhen Children's Hospital (CN)
- Children's Hospital of Fudan University (CN)
Publication Details
- Journal
- BMC Nephrology
- Published
- 2025-12-23
- DOI
- https://doi.org/10.1186/s12882-025-04616-z
- Citations
- 1
- Primary Topic
- Pancreatic function and diabetes
- Type
- article
- Field-Weighted Citation Impact
- 2.01
Funders
- Health Commission of Hubei Province