Importance of clinical variables in the diagnosis of MODY2 and MODY3
| Autor: | M. Pilar López Garrido, Lynda Louhibi Rubio, Silvia Aznar Rodríguez, Julio Escribano Martínez, Pedro José Pinés Corrales, Antonio Hernández López, Francisco Botella Romero, José Joaquín Alfaro Martínez, Cristina Lamas Oliveira, Ramón Requejo Castillo, José Juan Lozano García, Luz María López Jiménez |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Pediatrics Clinical variables Adolescent Glucose control Endocrinology Diabetes and Metabolism medicine.medical_treatment Maturity onset diabetes of the young Young Adult Endocrinology Pharmacotherapy Diabetes mellitus medicine Humans Retrospective Studies Genetic testing medicine.diagnostic_test Glucokinase business.industry Insulin medicine.disease Gestational diabetes Diabetes Mellitus Type 2 Ketone bodies Female business |
| Zdroj: | Endocrinología y Nutrición. 58:341-346 |
| ISSN: | 1575-0922 |
| Popis: | Aims MODY (maturity onset diabetes of the young) is a group of well-defined diseases clinically characterised by onset before 25 years of age 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 25 years of age 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. |
| Databáze: | OpenAIRE |
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