Role of Comprehensive Renal Genetic Testing in Diagnosing a <i>RMND‐1</i> Mitochondrial Disease in Two Adult Cases Exhibiting Variable Disease Phenotypes
<i>RMND1-</i>related mitochondrial disease is a rare genetic condition that affects multiple organs, including the kidneys. We describe two adult patients whose diagnosis, initiated in childhood, was established through renal gene panel testing, emphasizing the value of genetic testing in uncovering kidney-related conditions that have a high degree of clinical heterogeneity.
Authors
- Sumit Punj (ORCID: https://orcid.org/0000-0002-2274-8218)
- Lauren Zec
- Nour Al Haj Baddar
- Robin J. Larson
- Tessa Pitman
- Emily Hendricks
- Quinn Stein (ORCID: https://orcid.org/0000-0002-7670-9281)
- Meg Hager
- Kristen Connors (ORCID: https://orcid.org/0009-0007-3055-8776)
- Jennifer Stoddard (ORCID: https://orcid.org/0000-0002-2137-9158)
- Ryan Mascarenhas
- Alexa Bacher
- Maggie Westemeyer
Institutions
- Boston University (US)
- Natera (United States) (US)
- Colorado Kidney Care (US)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2025-04-01
- DOI
- https://doi.org/10.1002/ccr3.70421
- Citations
- 1
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.81