A Case of Late-onset Type 1 Diabetes with Optic Atrophy, Urinary Tract Abnormality, and Auditory Disturbance.
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A 54-yar-old man was diagnosed with Wolfram syndrome without WFS 1 gene mutation.<BR>The patient was admitted with a 3-day history of dysuria but no personal or family history of diabetes. A year earlier, he had been diagnosed with idiopathic optic atrophy.<BR>On admission, plasma glucose was 696 mg/d<I>l</I>, arterial blood pH 7.25, base excess-11.6 mmol/<I>l</I> and ketouria was present.The patient was diagnosed and admitted for routine therapy for diabetic ketoacidosis (DKA).He was later treated with insulin injection twice a day. On admission, HbA<SUB>1</SUB>c was 7.2%.Islet cell antibodies and antiglutamic acid decarboxylase antibodies were negative. Laboratory determination of HLA type showed DR-4 and DR-9 haplotypes. Insulin-dependent diabetes mellitus was suggested because endogenous insulin secretion was severely reduced. During admission, he had a urinary tract infection and abdominal computed tomography (CT) showed severe hydronephrosis of the rightkidney. Because the right kidney was not functioning and might cause recurrent infection, endoscopic nephrectomy was done. The diagnosis was hydronephrosis due to congenital uretero-pelvic junction (UPJ) stenosis. Audiometry showed a dip at high frequencies. Although insulin-dependent diabetes mellitus accompanied by optic atrophy, urinary tract abnormality, and auditory disturbance suggested Wolfram syndrome, WFS 1 gene mutation was not detected by direct sequence analysis of peripheral blood leukocyte DNA.
- 一般社団法人 日本糖尿病学会の論文
一般社団法人 日本糖尿病学会 | 論文
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