A case of mitochondrial kidney disease with insulin resistance and hypoadiponectinemia

• Published in: Diabetology international Vol. 3; no. 1; pp. 54 - 60
• Main Authors: Baden, Megu Yamaguchi, Yamada, Yuya, Takahi, Yasumitsu, Obata, Yoshinari, Saisho, Kenji, Tamba, Sachiko, Yamamoto, Koji, Muratsu, Jun, Morishima, Atsuyuki, Sakaguchi, Katsuhiko, Matsuzawa, Yuji
• Format: Journal Article
• Language: English
• Published: Japan Springer Japan 01.03.2012
• Subjects: Case Report; Diabetes; Endocrinology; Medicine; Medicine & Public Health; Metabolic Diseases; Oxidative stress; Insulin resistance; Diabetes mellitus; Mitochondrial kidney disease; 3243 A to G mutation; Adiponectin
• ISSN: 2190-1678; 2190-1686
• DOI: 10.1007/s13340-011-0050-y

A 27-year-old woman with severe proteinuria, diabetes mellitus, sensorineural hearing impairment, and slight renal dysfunction was admitted to our hospital. The patient was diagnosed as having mitochondrial kidney disease, a rare disease with mitochondrial 3243 A to G mutation. The patient’s mother and younger sister had the same mitochondrial mutation, with the younger sister also having proteinuria. Differing from general mitochondrial diabetic patients with decreased insulin secretion, this patient showed insulin resistance. The thickening of the carotid intima-media, high brachial ankle pulse wave velocity, and ischemic change in cerebral white matter implied progressive arteriosclerosis. The patient also had hypoadiponectinemia even though she only had a small amount of visceral fat, and this hypoadiponectinemia may be one of the reasons behind the insulin resistance and arteriosclerosis. This case showed that insulin resistance cannot be the sole reason to exclude the possibility of mitochondrial kidney disease, and also showed the potential relationship between mitochondrial mutation and hypoadiponectinemia.