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.

Clinical differences between patients with MODY-3, MODY-2 and type 2 diabetes mellitus with I27L polymorphism in the HNF1alfa 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 HNF1α 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 HNF1α 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 HNF1α 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 HNF1α 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 HNF1α gene

Objetivos: El objetivo de este estudio es describir y evaluar las características clínicas y metabólicas de pacientes diabéticos MODY 3, MODY 2 y con diabetes tipo 2 portadores del polimorfismo I27L en el gen HNF1α. Métodos: Se incluyó a 31 pacientes diagnosticados previamente y en seguimiento en consultas externas por diabetes tipo MODY 3, MODY 2 y diabetes tipo 2 portadores del polimorfismo I27L en el gen HNF1α: 10 pacientes diagnosticados de diabetes MODY 3 (pertenecientes a 5 familias); 15 pacientes con diabetes MODY 2 (pertenecientes a 9 familias) y 6 pacientes diagnosticados de diabetes tipo 2 portadores del polimorfismo I27L en el gen HNF1α. Se analizan las características clínicas, antropométricas y metabólicas de los pacientes. Resultados: No se objetivaron diferencias en la distribución por sexos y edad o forma de diagnóstico de la diabetes. Todos los pacientes con diabetes MODY 2 y MODY 3 tenían antecedentes familiares de diabetes. El 33,3% de los pacientes con diabetes tipo 2 portadores del polimorfismo I27L en el gen HNF1α no tenían antecedentes familiares de diabetes (p > 0,05). No se encontraron diferencias en el IMC, la prevalencia de hipertensión arterial o la incidencia de complicaciones microvasculares o macrovasculares. En cuanto al tratamiento, el 100% de los pacientes con diabetes MODY 3 necesitaban tratamiento farmacológico. El 100% de los pacientes con diabetes MODY 2 y el 16,7% de los pacientes con diabetes tipo 2 y el polimorfismo I27L en el gen HNF1α no necesitaban tratamiento farmacológico (p > 0,05). Conclusiones: Este artículo realza la dificultad en la correcta clasificación clínica de los pacientes con diabetes MODY 2, MODY 3 y diabéticos tipo 2 con características clínicas atípicas, en este caso portadores del polimorfismo I27L en el gen HNF1α