Characterization of the renal phenotype in RMND1-related mitochondrial disease.
Brian J ShayotaNhon T LeNasim BekheirniaJill A RosenfeldAmy C GoldsteinMichael MoritzDennis W BartholomewMatthew T PastoreFan XiaChristine EngYaping YangDolores J LambFernando ScagliaMichael C BraunMir Reza BekheirniaPublished in: Molecular genetics & genomic medicine (2019)
Our experience with RRMD demonstrates a specific pattern of renal disease manifestations and clinical course. Patients are unlikely to respond to traditional chronic kidney disease (CKD) treatments, making early diagnosis and consideration of renal transplantation paramount to the management of RRMD.