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Aoyama T.,The Tazuke Kofukai Foundation Medical Research Institute | Aoyama T.,University of Tokyo | Ikeda H.,The Tazuke Kofukai Foundation Medical Research Institute | Hamamoto Y.,The Tazuke Kofukai Foundation Medical Research Institute | And 8 more authors.
Journal of Diabetes Investigation | Year: 2012

Aims/Introduction: We examined whether levels of glutamic acid decarboxylase autoantibodies (GADAb) might show the clinical heterogeneity of adult Japanese diabetes. Materials and Methods: In this cross-sectional study, the serum levels of GADAb were measured in a total of 1857 consecutive adult diabetic patients aged 20years or older. The patients with positive GADAb, arbitrarily defined as ≥1.5U/mL, were divided into quartiles according to the number of patients. The age- and sex-matched diabetic patients without GADAb were selected as a control group. Results: A total of 103 (5.5%) of the diabetic patients had GADAb, and showed higher HbA 1c and serum high-density lipoprotein (HDL) cholesterol levels, lower body mass index (BMI), urinary C-peptide immunoreactivity (CPR), serum triglycerides (TG) and uric acid (UA) levels, and lower prevalence of metabolic syndrome than the control group (P<0.05). Quartiles 3 and 4 (i.e. GADAb≥4.6 U/mL) showed a higher HbA 1c level, lower BMI, urinary CPR, serum TG and UA levels, quartile 2 (2.5≤GADAb<4.6U/mL) showed a lower BMI level than the control group (P<0.05). Among the clinical parameters, we observed significant upward trends for both HbA 1c and serum HDL cholesterol levels, and significant downward trends for BMI, serum TG and UA, urinary CPR levels, and prevalence of metabolic syndrome across GADAb quartiles (P<0.05 for trend). Conclusions: These results show that the clinical phenotype of adult Japanese diabetes correlates with GADAb levels, and that patients with GADAb (≥2.5U/mL) show different characteristics from those without GADAb, although further longitudinal studies are required. © 2012 Asian Association for the Study of Diabetes and Blackwell Publishing Asia Pty Ltd.

Iwasaki Y.,The Tazuke Kofukai Foundation Medical Research Institute | Iwasaki Y.,Tokyo Medical and Dental University | Takahashi M.,The Tazuke Kofukai Foundation Medical Research Institute | Nozu K.,Kobe University | And 2 more authors.
Internal Medicine | Year: 2011

A 49-year-old otherwise healthy man was admitted to our hospital because of repeated generalized convulsions after influenza A virus infection. His family history was notable for consanguinity of parents. Initial laboratory tests revealed metabolic alkalosis with hypomagnesemia, as well as an elevated high density lipoprotein cholesterol level. He was diagnosed with Gitelman's syndrome and cholesteryl ester transfer protein deficiency by identifying homozygous mutations of causative genes, SLC12A3 and CETP, respectively. These two genes are located in the vicinity on chromosome 16, suggesting the possibility of autozygosity. This is the first case report highlighting the co-existence of these genetic disorders. © 2011 The Japanese Society of Internal Medicine.

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