Undiagnosed MODY: Time for Action
نویسندگان
چکیده
منابع مشابه
Mody
EARLY HISTORY—In the academic year 1949–1950, one of us (S.S.F.), while a first-year Fellow in Endocrinology and Metabolism at the University of Michigan (Jerome W. Conn, Division Chief), initiated a prospective, long-term study on the diagnosis, natural history, and clinical genetics of diabetes. Starting with known diabetic patients from the Diabetes Clinic, I recruited their apparently healt...
متن کاملMeglitinide Analogues in Adolescent Patients With HNF1A-MODY (MODY
For pediatric patients with hepatocyte nuclear factor-1A (HNF1A)– maturity-onset diabetes of the young (MODY 3), treatment with sulfonylureas is recommended. In adults with HNF1A-MODY, meglitinide analogues achieve lower postprandial glucose levels and pose a lower risk of delayed hypoglycemia compared with sulfonylureas. This therapy has not yet been reviewed in pediatric patients. We report o...
متن کاملGCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation
Maturity onset diabetes of the young (MODY) is a monogenic form of diabetes inherited as an autosomal dominant trait. The second most common cause is GCK-MODY due to heterozygous mutations in the GCK gene which impair the glucokinase function through different mechanisms such as enzymatic activity, protein stability, and increased interaction with its receptor. The enzyme normally acts as a glu...
متن کاملMeglitinide analogues in adolescent patients with HNF1A-MODY (MODY 3).
For pediatric patients with hepatocyte nuclear factor-1A (HNF1A)-maturity-onset diabetes of the young (MODY 3), treatment with sulfonylureas is recommended. In adults with HNF1A-MODY, meglitinide analogues achieve lower postprandial glucose levels and pose a lower risk of delayed hypoglycemia compared with sulfonylureas. This therapy has not yet been reviewed in pediatric patients. We report on...
متن کاملExome Sequencing and Genetic Testing for MODY
CONTEXT Genetic testing for monogenic diabetes is important for patient care. Given the extensive genetic and clinical heterogeneity of diabetes, exome sequencing might provide additional diagnostic potential when standard Sanger sequencing-based diagnostics is inconclusive. OBJECTIVE The aim of the study was to examine the performance of exome sequencing for a molecular diagnosis of MODY in ...
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ژورنال
عنوان ژورنال: Current Diabetes Reports
سال: 2015
ISSN: 1534-4827,1539-0829
DOI: 10.1007/s11892-015-0681-7