Importance of clinical variables in the diagnosis of MODY2 and MODY3

La diabetes tipo MODY (del inglés maturity onset diabetes of the young) constituye un grupo de patologías bien definidas y caracterizadas por su aparición antes de los 25 años, herencia autosómica dominante y por el hecho de que no precisan un tratamiento con insulina (al menos, inicialmente) para evitar la formación de cuerpos cetónicos. A pesar de la importancia de una clasificación precisa del paciente diabético, no siempre resulta sencillo clasificar el diagnóstico de un paciente joven con diabetes, y los estudios genéticos, a menudo, se usan de forma inadecuada. Métodos Se describen las características clínicas de pacientes cuyo estudio para MODY2 y MODY3 resultó negativo, y se comparan con las características de pacientes con resultado de estudio positivo. Resultados Todos los pacientes con MODY3 habían sido diagnosticados antes de los 25 años de edad y requerían algún tratamiento farmacológico para controlar la glucemia. Los pacientes con MODY2 fueron diagnosticados a partir de la primera analítica realizada, bien de forma accidental o dentro de un contexto de cribado de diabetes gestacional. La descripción clínica de los 19 pacientes cuyo estudio para MODY2 y MODY3 resultó negativo, mostró que sólo dos pacientes presentaban un cuadro clínico compatible con MODY3 y solo un paciente con MODY2.ConclusionesLas características clínicas pueden ser utilizadas para excluir el diagnóstico de MODY2 y MODY3, y ello puede reducir la necesidad de estudios genéticos (AU)

MODY (maturity onset diabetes of the young) is a group of well-defined diseases clinically characterised by onset before age 25 years that does not require insulin treatment (at least initially)to prevent the formation of ketone bodies and autosomal dominant inheritance. Despite the importance of accurate classification, it is not always simple to catalogue the diagnosis of a young patient with diabetes, and genetic studies are often improperly used. Methods: We describe the clinical features of patients negative for MODY2 and MODY3 and compared them to patients positive for these subtypes. Results: All patients with MODY3 had been diagnosed before age 25 years and required drug therapy for blood glucose control. MODY2 patients were diagnosed at the first laboratory workup either incidentally or as part of gestational diabetes screening. The clinical description of the19 patients negative for MODY2 and MODY3 showed that only two patients presented a clinical picture consistent with MODY3 and one patient with MODY2.Conclusions: Clinical features can be used for early exclusion of a MODY2 or MODY3 diagnosis and may reduce the need for genetic testing (AU)

Importance of clinical variables in the diagnosis of MODY2 and MODY3.

AIMS: MODY (maturity onset diabetes of the young) is a group of well-defined diseases clinically characterised by onset before age 25 years that does not require insulin treatment (at least initially) to prevent the formation of ketone bodies and autosomal dominant inheritance. Despite the importance of accurate classification, it is not always simple to catalogue the diagnosis of a young patient with diabetes, and genetic studies are often improperly used. METHODS: We describe the clinical features of patients negative for MODY2 and MODY3 and compared them to patients positive for these subtypes. RESULTS: All patients with MODY3 had been diagnosed before age 25 years and required drug therapy for blood glucose control. MODY2 patients were diagnosed at the first laboratory workup either incidentally or as part of gestational diabetes screening. The clinical description of the 19 patients negative for MODY2 and MODY3 showed that only two patients presented a clinical picture consistent with MODY3 and one patient with MODY2. CONCLUSIONS: Clinical features can be used for early exclusion of a MODY2 or MODY3 diagnosis and may reduce the need for genetic testing.