Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes
Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes
复制标题
四肢脂肪营养不良。
DOI：
10.1007/bf00430347
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发表时间：
1975
期刊：
影响因子：
--
通讯作者：
W. Creutzfeldt
中科院分区：
文献类型：
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作者：
J. Köbberling;B. Willms;R. Kattermann;W. Creutzfeldt
总结观察到一例女性患者出现以下症状：手臂和腿部完全无皮下脂肪，躯干和面部脂肪组织发育良好，重度高脂血症，发疹性黄瘤，胰岛素抵抗型糖尿病，无酮症酸中毒，肝肿大和基础代谢率升高。因此，病人表现出脂肪营养型糖尿病（劳伦斯型糖尿病）的所有特征。病人的母亲和一个姐姐被发现有同样的特殊外观和轻微的高脂血症，但没有糖尿病。这种类型的部分脂肪营养不良与严重的高脂血症，胰岛素抵抗型糖尿病无酮症酸中毒和基础代谢率升高的组合进一步观察到2个无关的患者没有已知的家族发生。在1个家族中，脂肪营养不良和高脂血症综合征是显性遗传的。除了先天性全身性脂肪营养不良的常染色体隐性遗传综合征外，还有一组具有各种类型脂肪营养不良的显性遗传综合征。
SummaryA female patient with the following symptoms has been observed: complete absence of subcutaneous fat on the arms and legs, well developed adipose tissue on the trunk and face, severe hyperlipidemia, eruptive xanthomas, insulin resistant diabetes mellitus with lack of ketoacidosis, hepatomegaly and elevated basal metabolic rate. The patient thus exhibited all characteristics of lipatrophic diabetes (Lawrence type of diabetes).The mother and a sister of the patient were found to have the same peculiar appearence and a slight hyperlipidemia but no diabetes mellitus. The combination of this type of partial lipodystrophy with severe hyperlipidemia, insulin resistant diabetes mellitus without ketoacidosis and elevated basal metabolic rate was further observed in 2 unrelated patients without known familial occurrence.Thus partial lipodystrophy of the extremities is another, previously undescribed, syndrome associated with the Lawrence type of diabetes mellitus. In the 1 family the syndrome of lipodystrophy and hyperlipidemia is dominantly inherited. Besides the autosomal recessively inherited syndrome of congenital generalized lipodystrophy there is a heterogenous group of dominantly inherited syndromes with various types of lipodystrophy.