摘要
遗传性胰岛素抵抗综合征是指一类与胰岛素、胰岛素受体及受体后基因突变有关的疾病，其中以胰岛素受体基因突变最为常见，主要包括矮妖综合征、Rabson-Mendenhall综合征及A型胰岛素抵抗。矮妖综合征是遗传性胰岛素抵抗综合征中最严重的一种表型，多在2岁前由于胰岛D细胞功能衰竭，导致酮症酸中毒和各种并发症而死亡。A型胰岛素抵抗多见于青年女性，糖尿病一般不重，可存活至成年后。Rabson-Mendenhall综合征临床表型的严重程度常介于矮妖综合征和A型胰岛素抵抗之间。此三者临床表现的异质性可能与突变的类型、突变位点的差异以及是否合并其他基因缺陷有关。
Inherited insulin resistance syndrome is a disease related to insulin gene mutation,insulin receptor gene mutation and insulin post-receptor gene mutation. The most common one is the insulin receptor gene mutation including Lepreehaunism,Rabson-Mendenhall syndrome and type A insulin resistance. Leprechaunism, the most severe one, develop a constant hyperglycemia followed by diabetic ketoacidosis and death due to a progressive decline of endogenous insulin secretion. Type A insulin resistance usually found in young women is not presented with severe diabetes and could survive to adults. The clinical severity of Rabson-Mendenhall syndrome is between Leprechaunism and type A insulin resistance. The heterogeneity of these three can be associated with the type of mutation, the difference of mutable site and the defects of other related genes.
出处
《国际内分泌代谢杂志》
2009年第2期117-119,共3页
International Journal of Endocrinology and Metabolism
