Mitochondrial Diabetes Mellitus with Rapid Renal Impairment Progression Due to Focal Glomerular Sclerosis.
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Accession number;01A0266259
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| Title;Mitochondrial Diabetes Mellitus with Rapid Renal Impairment Progression Due to Focal Glomerular Sclerosis. |
| Author;
KATSUTA HIDENORI
(Kyorin Univ., Fac. of Med.)
TASHIRO TERUAKI
(Kyorin Univ., Fac. of Med.)
TANAKA TOSHIAKI
(Kyorin Univ., Fac. of Med.)
YAMAGUCHI SHIN'YA
(Kyorin Univ., Fac. of Med.)
OZAWA SACHIHIKO
(Kyorin Univ., Fac. of Med.)
MARUYAMA MASAHIRO
(Kyorin Univ., Fac. of Med.)
KATAHIRA HIROSHI
(Kyorin Univ., Fac. of Med.)
TAKIZAWA MAKOTO
(Kyorin Univ., Fac. of Med.)
ISHIDA HITOSHI
(Kyorin Univ., Fac. of Med.)
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Journal Title;Journal of the Japan Diabetic Society
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Journal Code:Z0279B
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ISSN:0021-437X
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VOL.44;NO.1;PAGE.31-37(2001)
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| Figure&Table&Reference;FIG.4, TBL.1, REF.23 |
| Pub. Country;Japan |
| Language;Japanese |
| Abstract;A 24-year-old man diagnosed with diabetes mellitus 4 years ago had occasional proteinuria accompanying body weight loss. Fasting blood glucose gradually elevated; high glibenclamide dosage was used for glycemic control. At 22 years old, he was admitted to our hospital for the induction of insulin treatment and detailed examinations to diagnose diabetic complications. He did not yet suffer from diabetic retinopathy or neuropathy, but serum creatinine was high (1.7mg/dl) and proteinuria persistent (about 2.0 g daily). Because of his short stature and hearing disturbance, the existence of mitochondrial gene mutation was suspected. Mutation of his mitochondrial gene at 3243 positions was 15% in circulating white blood cells. The same mutation was detected in his mother and sister, with mutation 1% in the mother and 18% in the sister. Histological examination of his kidneys demonstrated typical focal glomerular sclerosis (FGS) but no diabetic nephropathy in remaining renal tissue. The point mutation of the renal mitochondrial gene was 43%, almost 3 times higher than that of peripheral leukocytes, suggesting that renal histological manifestations of FGS are derived from mitochondrial gene mutation. Although he has no symptoms of mitochondrial encephalopathy or myopathy at present, atrophic changes have been already recognized in his brain stem and cerebellum via magnetic resonance imaging. He must be followed up carefully because clinical mitochondrial encephalopathy will probably become apparent. (author abst.) |
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