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Accession number;01A0718619
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| Title;A Case of Mitochondrial Diabetes Complicated by Usher Syndrome. |
| Author;
ETO TAKASHI
(Kyudai Daigakuin'igakukeikenkyuka Byotaiseigyonaikagaku)
IGUCHI TOYOSHI
(Kyudai Daigakuin'igakukeikenkyuka Byotaiseigyonaikagaku)
YOSHIKAWA HIROYASU
(Kyudai Daigakuin'igakukeikenkyuka Byotaiseigyonaikagaku)
HARADA NAOHIKO
(Kyudai Daigakuin'igakukeikenkyuka Byotaiseigyonaikagaku)
KAKIMOTO MAIKO
(Kyudai Daigakuin'igakukeikenkyuka Byotaiseigyonaikagaku)
IMAMURA MINAKO
(Kyudai Daigakuin'igakukeikenkyuka Byotaiseigyonaikagaku)
AOKI TSUYOSHI
(Kyudai Daigakuin'igakukeikenkyuka Byotaiseigyonaikagaku)
HASHIMOTO TOSHIHIKO
(Kyudai Daigakuin'igakukeikenkyuka Byotaiseigyonaikagaku)
NAWATA HAJIME
(Kyudai Daigakuin'igakukeikenkyuka Byotaiseigyonaikagaku)
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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.5;PAGE.393-397(2001)
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| Figure&Table&Reference;FIG.1, TBL.4, REF.16 |
| Pub. Country;Japan |
| Language;Japanese |
| Abstract;We report a 48-year-old man with diabetes mellitus harboring mutation in mitochondrial DNA complicated by Usher syndrome. The patient reported a history of visual field loss at age 18, bilateral sensorineural deafness at age 28, and diabetes at age 35. He took medication for diabetes from age 40. At the end of February 1999, his hearing suddenly worsened and he was admitted for therapy. He had bilateral cataracts and advanced retinitis pigmentosa, making him almost blind. Audiography showed a decrease in hearing capacity to 115dB, in the left ear and 78.3dB. in the right ear. HbA1c was 9.5%. Urinary CPR excretion was 15.MU.g/day, and .DELTA.CPR was 0.8ng/ml in glucagon load testing, suggesting decreased in insulin secretion. A point mutation at position 3243 in mitochondrial DNA was detected in peripheral blood leukocyies. We consider the man to be a rare case with mitochondrial diabetes complicated by Usher syndrome characterized by juvenile-onset retinitis pigmentosa and progressive sensorineural deafness. (author abst.) |
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