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1
Type II diabetes of early onset: a distinct clinical and genetic syndrome?早发型2型糖尿病:一种独特的临床和遗传综合征?
Br Med J (Clin Res Ed). 1987 Apr 11;294(6577):923-8. doi: 10.1136/bmj.294.6577.923.
2
Availability of type II diabetic families for detection of diabetes susceptibility genes.II型糖尿病家族用于检测糖尿病易感基因的可及性。
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3
A Chinese family with non-insulin-dependent diabetes of early onset and severe diabetic complications.一个患有早发性非胰岛素依赖型糖尿病并伴有严重糖尿病并发症的中国家庭。
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4
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Diabetes Care. 1990 Jan;13(1):49-64. doi: 10.2337/diacare.13.1.49.

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2
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Obesity, albuminuria and hypertension among Hong Kong Chinese with non-insulin-dependent diabetes mellitus (NIDDM).香港非胰岛素依赖型糖尿病(NIDDM)华裔人群中的肥胖、蛋白尿和高血压
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8
Insulin secretory defects in polycystic ovary syndrome. Relationship to insulin sensitivity and family history of non-insulin-dependent diabetes mellitus.多囊卵巢综合征中的胰岛素分泌缺陷。与胰岛素敏感性及非胰岛素依赖型糖尿病家族史的关系。
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10
Linkage analysis of the receptor gene and MODY.受体基因与青少年发病的成年型糖尿病的连锁分析。
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The genetics of the glucose intolerance disorders.
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Diabetes in identical twins. A study of 200 pairs.同卵双胞胎中的糖尿病。一项对200对双胞胎的研究。
Diabetologia. 1981 Feb;20(2):87-93. doi: 10.1007/BF00262007.
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Identifying risk factors for diabetes in first degree relatives of non-insulin dependent diabetic patients.
Am J Epidemiol. 1982 Mar;115(3):380-97. doi: 10.1093/oxfordjournals.aje.a113316.
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Metabolic studies in unaffected co-twins of non-insulin-dependent diabetics.非胰岛素依赖型糖尿病患者未患病的双胞胎的代谢研究。
Br Med J (Clin Res Ed). 1981 May 23;282(6277):1656-8. doi: 10.1136/bmj.282.6277.1656.
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Aspects of the pathogenesis of type 2 diabetes.2型糖尿病的发病机制方面
Endocr Rev. 1984 Summer;5(3):395-410. doi: 10.1210/edrv-5-3-395.
6
Genetic factors in diabetes mellitus studied by the oral glucose tolerance test.通过口服葡萄糖耐量试验研究糖尿病中的遗传因素。
J Med Genet. 1965 Dec;2(4):221-6. doi: 10.1136/jmg.2.4.221.
7
Clinical and chemical diabetes in offspring of diabetic couples.糖尿病夫妇后代中的临床糖尿病和化学性糖尿病。
N Engl J Med. 1969 Aug 14;281(7):343-7. doi: 10.1056/NEJM196908142810703.
8
Age of onset and inheritance of diabetes: the importance of examining relatives.糖尿病的发病年龄与遗传:检查亲属的重要性。
Diabetologia. 1968 Dec;4(6):317-21. doi: 10.1007/BF01211765.
9
Studies on the genetic heterogeneity of diabetes mellitus.糖尿病的遗传异质性研究。
Diabetologia. 1971 Feb;7(1):46-9. doi: 10.1007/BF02346253.
10
Diabetes in the Pima Indians. Evidence of bimodality in glucose tolerance distributions.皮马印第安人中的糖尿病。葡萄糖耐量分布呈双峰性的证据。
Diabetes. 1971 Nov;20(11):756-65. doi: 10.2337/diab.20.11.756.

早发型2型糖尿病:一种独特的临床和遗传综合征?

Type II diabetes of early onset: a distinct clinical and genetic syndrome?

作者信息

O'Rahilly S, Spivey R S, Holman R R, Nugent Z, Clark A, Turner R C

出版信息

Br Med J (Clin Res Ed). 1987 Apr 11;294(6577):923-8. doi: 10.1136/bmj.294.6577.923.

DOI:10.1136/bmj.294.6577.923
PMID:3107658
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1245995/
Abstract

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.

摘要

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。