Two Sibling Cases of Mitochondrial Diabetes Mellitus Presented With Different Clinical Courses and Related Complications

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  • Abe Tomoe
    Division of Metabolism and Biosystemic Science, Department of Internal Medicine, Asahikawa Medical University
  • Takeda Yasutaka
    Division of Metabolism and Biosystemic Science, Department of Internal Medicine, Asahikawa Medical University
  • Bessho Ryoichi
    Division of Metabolism and Biosystemic Science, Department of Internal Medicine, Asahikawa Medical University
  • Sakai Kentaro
    Division of Metabolism and Biosystemic Science, Department of Internal Medicine, Asahikawa Medical University
  • Nakamura Tomonobu
    Division of Metabolism and Biosystemic Science, Department of Internal Medicine, Asahikawa Medical University
  • Yanagimachi Tsuyoshi
    Division of Metabolism and Biosystemic Science, Department of Internal Medicine, Asahikawa Medical University
  • Sakagami Hidemitsu
    Division of Metabolism and Biosystemic Science, Department of Internal Medicine, Asahikawa Medical University
  • Fujita Yukihiro
    Division of Metabolism and Biosystemic Science, Department of Internal Medicine, Asahikawa Medical University
  • Abiko Atsuko
    Division of Metabolism and Biosystemic Science, Department of Internal Medicine, Asahikawa Medical University
  • Takiyama Yumi
    Division of Metabolism and Biosystemic Science, Department of Internal Medicine, Asahikawa Medical University
  • Ota Tsuguhito
    Division of Metabolism and Biosystemic Science, Department of Internal Medicine, Asahikawa Medical University

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Other Title
  • 臨床経過，関連合併症が著明に異なるミトコンドリア糖尿病の同胞例

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<p>A 43-year-old deaf woman who presented with headache and nausea was referred to our department to undergo treatment for diabetic ketoacidosis. She needed basal-bolus insulin treatment because her insulin secretory reserve was severely reduced. Mitochondrial diabetes mellitus (MDM) was suspect based on her sensorineural deafness and a maternal family history of diabetes. Because a mitochondrial DNA 3243 A>G mutation was detected in her blood leukocytes, she was diagnosed with MDM. Although there was no evidence of diabetic microangiopathy, she exhibited atrophy of both the occipital lobe of the cerebrum and cerebellum associated with an m.3243A>G mutation. Her 41-year-old younger sister was also deaf and was previously diagnosed with diabetes. The younger sister's treatment course differed in that she was treated with oral glucose-lowering agents. She also had an m.3243A>G mutation and was diagnosed with MDM. Her manifestations were differed from her sister's in that she had renal dysfunction and cardiomyopathy. The clinical manifestations in patients with mitochondrial disease vary because heteroplasmy levels of m.3243A>G mutation are divergent in organs and tissues. We report sibling cases of MDM that presented with distinct clinical manifestations.</p>

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