Comprehensive review of mitochondrial nephropathy-a renal phenotype in mitochondrial disease: causative genes, clinical and pathological features, diagnosis, prognosis, and treatment.

Abstract

Mitochondrial nephropathy is a genetic renal disease characterized by oxidative phosphorylation abnormalities in the mitochondrial respiratory chain in kidney cells, caused by pathogenic gene variants located on mitochondrial or nuclear DNA. Recent advancements in genetic diagnostic techniques and their widespread adoption have led to the identification of various genes associated with mitochondrial nephropathy. This review investigates the causative genes and clinicopathological features of mitochondrial nephropathy, including the various phenotypes and associated complications, and suggests potential pathogenic mechanisms. Furthermore, the diagnostic methods of the disease are explained with particular emphasis on characteristic pathological findings and genetic analysis. We also analyze the available long-term observational prognostic data. Although there is currently no evidence-based treatment for mitochondrial nephropathy, an overview of the existing treatment options is discussed, including future expectations. The choice of renal replacement therapy in cases with progression to end-stage renal disease has also been discussed. Overall, this review highlights the importance of raising awareness about mitochondrial nephropathy and establishing appropriate diagnostic systems to facilitate rapid and effective treatment.