O'Rahilly S, Spivey R S, Holman R R, Nugent Z, Clark A, Turner R C
Br Med J (Clin Res Ed). 1987 Apr 11;294(6577):923-8. doi: 10.1136/bmj.294.6577.923.
The inheritance of non-insulin-dependent (type II) diabetes was studied by a continuous infusion of glucose test in all available first degree relatives of 48 diabetic probands of various ages and with differing severity of disease. In an initial study of 38 type II diabetic subjects and their first degree relatives six islet cell antibody negative patients with early onset disease (aged 25-40 at diagnosis) were found to have a particularly high familial prevalence of diabetes or glucose intolerance. Nine of 10 parents available for study either had type II diabetes or were glucose intolerant. A high prevalence of diabetes or glucose intolerance was also found in their siblings (11/16;69%). In a second study of the families of a further 10 young diabetic probands (presenting age 25-40) whose islet cell antibody state was unknown a similar high prevalence of diabetes or glucose intolerance was found among parents of the five islet cell antibody negative probands (8/9; 89%) but not among parents of the five islet cell antibody positive probands (3/8;38%). Islet cell antibody negative diabetics with early onset type II disease may have inherited a diabetogenic gene or genes from both parents. They commonly need insulin to maintain adequate glycaemic control and may develop severe diabetic complications. Early onset type II diabetes may represent a syndrome in which characteristic pedigrees, clinical severity, and absence of islet autoimmunity make it distinct from either type I diabetes, maturity onset diabetes of the young, or late onset type II diabetes.
通过对48名不同年龄、疾病严重程度各异的糖尿病先证者的所有一级亲属进行持续葡萄糖输注试验,研究了非胰岛素依赖型(II型)糖尿病的遗传情况。在对38名II型糖尿病患者及其一级亲属的初步研究中,发现6名胰岛细胞抗体阴性、早发疾病(诊断时年龄25 - 40岁)的患者糖尿病或糖耐量异常的家族患病率特别高。可供研究的10名父母中,有9名患有II型糖尿病或糖耐量异常。在他们的兄弟姐妹中也发现了高患病率的糖尿病或糖耐量异常(11/16;69%)。在对另外10名年轻糖尿病先证者(就诊年龄25 - 40岁)家庭的第二项研究中,其胰岛细胞抗体状态未知,在5名胰岛细胞抗体阴性先证者的父母中发现了类似的高患病率的糖尿病或糖耐量异常(8/9;89%),而在5名胰岛细胞抗体阳性先证者的父母中未发现(3/8;38%)。早发II型疾病的胰岛细胞抗体阴性糖尿病患者可能从父母双方遗传了致糖尿病基因。他们通常需要胰岛素来维持血糖的充分控制,并且可能会发生严重的糖尿病并发症。早发II型糖尿病可能代表一种综合征,其特征性的家系、临床严重程度以及胰岛自身免疫的缺失使其有别于I型糖尿病、青年成熟期糖尿病或晚发II型糖尿病。