Adolescents at risk for MODY3 diabetes prefer genetic testing before adulthood Short title: Genetic testing of adolescents for MODY3
نویسندگان
چکیده
Brita Liljeström, MD, Tiinamaija Tuomi, MD, PHD, Bo Isomaa, MD, PHD, , Leena Sarelin, RN, Katja Aktan-Collan,MD, PHD, Helena Kääriäinen, MD,PHD 1 Research Program for Molecular Medicine, Helsinki University and Genetic Institute, Folkhälsan Research Center, Helsinki, Finland; 2 Department of Medicine, Helsinki University Hospital, Helsinki, Finland; Department of Clinical Genetics, Kuopio University Hospital, Kuopio, Finland; 4 Malmska Municipal Health Center and Hospital, Jakobstad, Finland; 5 Department of Social Psychology, University of Helsinki, Helsinki, Finland 6 Department of Medical Genetics, University of Turku and Department of Paediatrics, Turku University Hospital, Turku, Finland.
منابع مشابه
Adolescents at risk for MODY3 diabetes prefer genetic testing before adulthood.
Mutations in the hepatocyte nuclear factor (HNF)-1 gene cause an autosomally, dominantly inherited form of diabetes, maturity-onset diabetes of the young (MODY) type 3, which is characterized by poor insulin secretion in response to glucose together with good sensitivity to insulin and sulfonylurea medication and low renal threshold for glucose (1). The lifetime risk of diabetes may be as high ...
متن کاملImportance 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 patien...
متن کاملDouble Heterozygous Mutations Involving Both HNF1A/MODY3 and HNF4A/MODY1 Genes
OBJECTIVE We describe a maturity-onset diabetes of the young (MODY) case with mutations involving both HNF4A and HNF1A genes. RESEARCH DESIGN AND METHODS A male patient was diagnosed with diabetes at age 17; the metabolic control rapidly worsened to insulin requirement. At that time no relatives were known to be affected by diabetes, which was diagnosed years later in both the parents (father...
متن کاملSpectrum of HNF1A Somatic Mutations in Hepatocellular Adenoma Differs From That in Patients With MODY3 and Suggests Genotoxic Damage
OBJECTIVE Maturity onset diabetes of the young type 3 (MODY3) is a consequence of heterozygous germline mutation in HNF1A. A subtype of hepatocellular adenoma (HCA) is also caused by biallelic somatic HNF1A mutations (H-HCA), and rare HCA may be related to MODY3. To better understand a relationship between the development of MODY3 and HCA, we compared both germline and somatic spectra of HNF1A ...
متن کاملSpectrum of MODY in the south of New Zealand – including two novel mutations
Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes. It consists of a heterogeneous group of autosomal dominant inherited disorders, with typical onset in individuals aged less than twenty five years. There are several different sub-types of MODY which can be precisely identified using molecular genetic testing. Modes of presentation vary and can mimic type 1 or 2 diabet...
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