伴有肝细胞核因子1α（HNF1α）基因I27L多态性的青少年发病的成年型糖尿病3型（MODY-3）、青少年发病的成年型糖尿病2型（MODY-2）患者与2型糖尿病患者之间的临床差异

Clinical differences between patients with MODY-3, MODY-2 and type 2 diabetes mellitus with I27L polymorphism in the HNF1alpha gene.

作者信息

Pinés Corrales Pedro José, López Garrido María P, Aznar Rodríguez Silvia, Louhibi Rubio Lynda, López Jiménez Luz M, Lamas Oliveira Cristina, Alfaro Martínez Jose J, Lozano García Jose J, Hernández López Antonio, Requejo Castillo Ramón, Escribano Martínez Julio, Botella Romero Francisco

机构信息

Sección de Endocrinología y Nutrición, Complejo Hospitalario Universitario de Albacete, Albacete, España.

出版信息

Endocrinol Nutr. 2010 Jan;57(1):4-8. doi: 10.1016/S1575-0922(10)70002-4.

DOI:10.1016/S1575-0922(10)70002-4

PMID:20172480

Abstract

OBJECTIVE

The aim of our study was to describe and evaluate the clinical and metabolic characteristics of patients with MODY-3, MODY-2 or type 2 diabetes who presented I27L polymorphism in the HNF1alpha gene.

METHODS

The study included 31 previously diagnosed subjects under follow-up for MODY-3 (10 subjects from 5 families), MODY-2 (15 subjects from 9 families), or type 2 diabetes (6 subjects) with I27L polymorphism in the HNF1alpha gene. The demographic, clinical, metabolic, and genetic characteristics of all patients were analyzed.

RESULTS

No differences were observed in distribution according to sex, age of onset, or form of diagnosis. All patients with MODY-2 or MODY-3 had a family history of diabetes. In contrast, 33.3% of patients with type 2 diabetes mellitus and I27L polymorphism in the HNF1alpha gene had no family history of diabetes (p < 0.05). No differences were observed in body mass index, prevalence of hypertension, or microvascular or macrovascular complications. Drug therapy was required by 100% of MODY-3 patients, but not required by 100% of MODY-2 patients or 16.7% of patients with type 2 diabetes mellitus and I27L polymorphism in the HNF1alpha gene (p < 0.05).

CONCLUSIONS

Occasional difficulties may be encountered when classifying patients with MODY-2, MODY-3 or type 2 diabetes of atypical characteristics, in this case patients who present I27L polymorphism in the HNF1alpha gene.

摘要

目的

我们研究的目的是描述和评估伴有肝细胞核因子1α（HNF1α）基因I27L多态性的青少年发病的成年型糖尿病（MODY）-3、MODY-2或2型糖尿病患者的临床和代谢特征。

方法

该研究纳入了31名先前已确诊且正在接受随访的受试者，其中MODY-3患者10名（来自5个家庭），MODY-2患者15名（来自9个家庭），或伴有HNF1α基因I27L多态性的2型糖尿病患者6名。分析了所有患者的人口统计学、临床、代谢和遗传特征。

结果

在性别、发病年龄或诊断形式的分布上未观察到差异。所有MODY-2或MODY-3患者均有糖尿病家族史。相比之下，伴有HNF1α基因I27L多态性的2型糖尿病患者中有33.3%无糖尿病家族史（p<0.05）。在体重指数、高血压患病率或微血管或大血管并发症方面未观察到差异。100%的MODY-3患者需要药物治疗，但100%的MODY-2患者或伴有HNF1α基因I27L多态性的2型糖尿病患者中有16.7%不需要药物治疗（p<0.05）。