Clinical differences between patients with MODY-3, MODY-2 and type 2 diabetes mellitus with I27L polymorphism in the HNF1alpha gene.
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.
Pinés Corrales
Pedro José
PJ
Sección de Endocrinología y Nutrición, Complejo Hospitalario Universitario de Albacete, Albacete, España. pjpines@sescam.jccm.es
López Garrido
María P
MP
Aznar Rodríguez
Silvia
S
Louhibi Rubio
Lynda
L
López Jiménez
Luz M
LM
Lamas Oliveira
Cristina
C
Alfaro Martínez
Jose J
JJ
Lozano García
Jose J
JJ
Hernández López
Antonio
A
Requejo Castillo
Ramón
R
Escribano Martínez
Julio
J
Botella Romero
Francisco
F
D000293:Adolescent; D000328:Adult; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics*; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic
C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha