Clinical features and genetic analysis of nine Chinese children with Dent disease and identification of three novel <i>CLCN5</i> and <i>OCRL</i> variants
This study provides insight into the clinical and genetic profiles of DD patients. Notably, integrating genetic analysis with the detection of markedly elevated levels of LMWP, particularly α1-microglobulin,can substantially reduce the misdiagnosis of this disease.
Authors
- Qifan Zhu (ORCID: https://orcid.org/0000-0001-7174-7943)
- Xinyi Jiang (ORCID: https://orcid.org/0000-0002-0234-9359)
- Hongzhou Lin (ORCID: https://orcid.org/0000-0002-9563-908X)
- Xiu‐Feng Huang (ORCID: https://orcid.org/0000-0002-7852-6358)
- Dexuan Wang (ORCID: https://orcid.org/0000-0002-0261-4749)
- Yutong Huang
- Huihui Chen (ORCID: https://orcid.org/0000-0002-3905-7907)
Institutions
- Wenzhou Medical University (CN)
- Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University (CN)
Publication Details
- Journal
- Renal Failure
- Published
- 2025-03-25
- DOI
- https://doi.org/10.1080/0886022x.2025.2476222
- Primary Topic
- Ion Transport and Channel Regulation
- Type
- article
- Field-Weighted Citation Impact
- 0.00