MELAS Diagnosed by Genetic Testing at a Freestanding Dialysis Center: Two Dialysis Cases Highlighting the Diagnostic Role of Nephrologists

AbstractBackground Mitochondrial diseases such as MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes), are multisystem disorders that can be difficult to diagnose, particularly in patients receiving dialysis, where overlapping nonspecific symptoms may obscure the underlying condition. Their heterogeneous clinical manifestations, including neuropsychiatric symptoms, often lead to delayed or missed diagnoses. Case presentation We report two patients receiving maintenance dialysis in whom mitochondrial disease was suspected based on multisystem involvement, including diabetes mellitus, hearing loss, and neuropsychiatric features. In both cases, atypical psychobehavioral features, such as personality changes, intellectual impairment, and communication difficulties, complicated clinical management and contributed to delays in appropriate evaluation. Despite limited access to specialty care, genetic testing performed in the dialysis setting identified the m.3243A>G mutation in mitochondrial DNA, confirming the diagnosis of MELAS. Discussion These cases suggest that mitochondrial diseases may be underrecognized in dialysis populations. The identification of two cases within a single dialysis center over an eight-year period is noteworthy. Given that nephrologists maintain frequent and longitudinal contact with patients, they are well positioned to identify characteristic systemic features and initiate further diagnostic evaluation. Conclusions Mitochondrial diseases may be underrecognized among patients receiving dialysis. Recognition of characteristic clinical features, particularly neuropsychiatric and metabolic manifestations, is essential. Nephrologists may play a critical role in facilitating appropriate diagnostic evaluation by recognizing multisystem features.