Case Report: A potentially pathogenic new variant of the REN gene found in a family experiencing autosomal dominant tubulointerstitial kidney disease
This case identified a new variant in the <i>REN</i> gene, expanding the known spectrum of <i>REN</i> pathogenic variants. In addition, the importance of family history and genetic testing in confirming the diagnosis is emphasized. Genetic sequencing should be pursued when there are indications for testing.
Authors
- Jingyu Ma (ORCID: https://orcid.org/0000-0002-9391-6311)
- Zhijuan Hu
- Jinhong Li (ORCID: https://orcid.org/0000-0002-7814-136X)
- Jiejie Li (ORCID: https://orcid.org/0000-0002-2906-1566)
- Qiong Liu
Institutions
- Hebei Medical University (CN)
- North China University of Science and Technology (CN)
- Hebei General Hospital (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2024-12-11
- DOI
- https://doi.org/10.3389/fped.2024.1415064
- Citations
- 1
- Primary Topic
- Ion Transport and Channel Regulation
- Type
- article
- Field-Weighted Citation Impact
- 0.23