Mitochondrial Diabetes: A Case Report and Literature Review

Wei-Tsen Liao ； Ming-Chieh Tsai ； Dar-Shong Lin ； Chun-Chuan Lee

《Formosan Journal of Endocrinology and Metabolism》 9卷1期 (2018/06) Pp. 27-32

https://doi.org/10.6856/FJEM.201806_9(1).0004

摘要

Background. Diabetes mellitus (DM) is the most common endocrine manifestation of mitochondrial disease. If a patient with DM presents with atypical disease course or phenotype, the differential diagnosis of DM should include mitochondrial diabetes. Methods. We report a case of mitochondrial diabetes presented with gangrenous toes and lactic acidosis. Results. A 41-year-old woman with DM presented to our hospital with acute onset of gangrene over toes and lactic acidosis. Persistent hyperlactatemia and manifestations of low body mass index, deafness, and short stature prompted us to survey unusual etiologies of DM including mitochondrial disorder. Ragged red fibers were noted in specimens of muscle biopsy. We detected that the patient had an A to G transition mutation at position 3243 of the mitochondrial gene. Conclusion. Patients with mitochondrial diabetes presented with variable manifestations. Recognition of this disease is important because glycemic management differs in patients with mitochondrial diabetes. Use of metformin is not recommended for these patients because of excess risk of lactic acidosis.

關鍵字

diabetes mellitus ； gangrene ； mitochondrial diseases