Clinical Case Reports (Apr 2025)

Role of Comprehensive Renal Genetic Testing in Diagnosing a RMND‐1 Mitochondrial Disease in Two Adult Cases Exhibiting Variable Disease Phenotypes

  • Quinn Stein,
  • Ryan Mascarenhas,
  • Sumit Punj,
  • Maggie Westemeyer,
  • Emily Hendricks,
  • Tessa Pitman,
  • Meg Hager,
  • Nour Al Haj Baddar,
  • Kristen Connors,
  • Alexa Bacher,
  • Robin Larson,
  • Lauren Zec,
  • Jennifer Stoddard

DOI
https://doi.org/10.1002/ccr3.70421
Journal volume & issue
Vol. 13, no. 4
pp. n/a – n/a

Abstract

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ABSTRACT RMND1‐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.

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