Evaluation of insulin resistant diabetes mellitus in Alstrom syndrome:: a long-term prospective follow-up of three siblings
Evaluation of insulin resistant diabetes mellitus in Alstrom syndrome:: a long-term prospective follow-up of three siblings
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DOI：
10.1016/s0168-8227(02)00004-9
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发表时间：
2002-06-01
影响因子：
5.1
通讯作者：
Devrim, S
中科院分区：
文献类型：
--
作者：
Satman, I;Yilmaz, MT;Devrim, S
阿尔斯特罗姆综合征是糖尿病的罕见病因。我们研究了一个土耳其家庭的两代人，其中四人患有阿尔斯特罗姆综合征。三姐妹的自然病程随访13年。三姐妹身材矮小，躯干肥胖，并在10岁，5岁和13岁时因视网膜色素变性而完全失明。2例有感音神经性听力损失和轻度智力迟钝，另1例在14岁时出现糖尿病酮症酸中毒（DKA），从糖尿病发病开始就使用胰岛素治疗。在第二个病例中，20岁时通过OGTT诊断为糖尿病，并通过单独饮食控制1年，然后用磺脲类药物控制2.5年，然后用胰岛素控制。第三例在20岁时出现急性高血糖，一开始就需要胰岛素。此外，碳水化合物和脂肪代谢受损的过渡性特征（严重高胰岛素血症和胰岛素抵抗进展为胰岛P细胞衰竭，高甘油三酯血症伴脂肪肝）也得到证实，与文献一致。我们还发现了以前未报道的肾病伴早发性高血压的特征性表现，包括蛋白尿、肾小球病变、肾脏位置异常、输尿管-肾连接处狭窄和输尿管扩张。(C) 2002爱思唯尔科学爱尔兰有限公司版权所有。
Alstrom syndrome is a rare cause of diabetes mellitus. We studied two generations of a Turkish family in whom four members were affected by Alstrom syndrome. The natural course of the syndrome in three sisters was followed for 13 yr. The three sisters had short stature and truncal obesity, and developed complete blindness due to retinitis pigmentosa at 10, 5 and 13 yr of age. Two had sensorineural hearing loss and mild mental retardation, while the other developed diabetic ketoacidosis (DKA) at 14 yr and was treated with insulin from onset of diabetes. In the second case, diagnosis of diabetes was made by an OGTT at age 20 yr, and controlled with diet alone for I I yr, then with a sulphonylurea for 2.5 yr, then with insulin. The third case developed acute hyperglycaemia at 20 yr, and required insulin from onset. Moreover, transitional features of impaired carbohydrate and fat metabolism (severe hyperinsulinaemia and insulin resistance progressing to islet P cell failure, and hypertriglyceridaemia with fatty liver) were demonstrated, in accord with the literature. Previously unreported findings characteristic of nephro-uropathy with early-onset hypertension were also detected, and included in all cases proteinuria, glomerulopathy, and abnormal locations of the kidneys, narrowed uretero-renal junctions and dilated ureters. (C) 2002 Elsevier Science Ireland Ltd. All rights reserved.