Clinical differences between patients with MODY-3, MODY-2 and type 2 diabetes mellitus with I27L polymorphism in the HNF1伪 gene

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• 作者：Pedro José ; Piné ; s Corrales^a ; ^{pjpines@sescam.jccm.es} ; Marí ; a P. Ló ; pez Garrido^b ; Silvia Aznar Rodrí ; guez^a ; Lynda Louhibi Rubio^a ; Luz M. Ló ; pez Jimé ; nez^a ; Cristina Lamas Oliveira^a ; Jose J. Alfaro Martí ; nez^a ; Jose J. Lozano Garcí ; a^a ; Antonio Hern&#225 ; ndez Ló ; pez^a ; Ramó ; n Requejo Castillo^a ; Julio Escribano Martí ; nez^b ; Francisco Botella Romero^a
• 关键词：Diabetes mellitus ; Type 2 ; Hepatocyte nuclear factor 1 ; Polymorphism genetic
• 刊名：Endocrinolog铆a y Nutrici贸n
• 出版年：2010
• 期刊代码：pca151_15750922
• 类别：med
• 出版时间：January 2010
• 卷：57
• 期：1
• 页码：4-8
• 文件大小：312 K

摘要

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 HNF1伪 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 HNF1伪 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 HNF1伪 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 HNF1伪 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 HNF1伪 gene.