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糖尿病和遗传性高甘油三酯血症作为独立疾病实体的证据。

Evidence for diabetes mellitus and genetic forms of hypertriglyceridemia as independent entities.

作者信息

Brunzell J D, Hazzard W R, Motulsky A G, Bierman E L

出版信息

Metabolism. 1975 Oct;24(10):1115-21. doi: 10.1016/0026-0495(75)90148-1.

Abstract

Among 91 index cases whose diagnosis of a genetic type of hypertriglyceridemia was based on family studies, 27% had diabetes. To determine whether the familial forms of hypertriglyceridemia and genetic diabetes mellitus are inherited together or independently, the adult first degree relatives of these propositi were investigated for the presence of diabetes. Frequency of diabetes in first degree relatives of the 25 diabetic patients with a familial form of hypertriglyceridemia was identical whether such relatives were hyperlipidemic or not (13% versus 14.7%). The frequency of diabetes in both the hyperlipidemic and normolipidemic relatives of the 66 nondiabetic hypertriglyceridemic index cases also was not significantly different from each other (6.2% versus 4.0%). These results indicate that while diabetes is frequently associated with hypertriglyceridemia, genetic hypertriglyceridemia, per se, does not carry an increased risk of diabetes. Following treatment of diabetes, elevated triglyceride levels in index cases with both familial hypertriglyceridemia and untreated diabetes returned to lower but still elevated levels resembling those of affected (hypertriglyceridemic) relatives. Thus, the interaction of untreated diabetes and a familial form of hypertriglyceridemia determines the level of plasma triglyceride in a patient with both disorders.

摘要

在91例通过家族研究确诊为遗传性高甘油三酯血症的索引病例中,27%患有糖尿病。为了确定家族性高甘油三酯血症和遗传性糖尿病是共同遗传还是独立遗传,对这些先证者的成年一级亲属进行了糖尿病检查。25例患有家族性高甘油三酯血症的糖尿病患者的一级亲属中,无论这些亲属是否患有高脂血症,糖尿病的发生率相同(分别为13%和14.7%)。66例非糖尿病性高甘油三酯血症索引病例的高脂血症亲属和血脂正常亲属中糖尿病的发生率彼此也无显著差异(分别为6.2%和4.0%)。这些结果表明,虽然糖尿病常与高甘油三酯血症相关,但遗传性高甘油三酯血症本身并不会增加患糖尿病的风险。在糖尿病得到治疗后,患有家族性高甘油三酯血症且未治疗糖尿病的索引病例中升高的甘油三酯水平恢复到较低但仍高于正常的水平,类似于受影响(高甘油三酯血症)亲属的水平。因此,未治疗的糖尿病与家族性高甘油三酯血症之间的相互作用决定了同时患有这两种疾病的患者的血浆甘油三酯水平。

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