Should the Negativity for Islet Cell Autoantibodies Be Used in a Prescreening for Genetic Testing in Maturity-Onset Diabetes of the Young The Case of Autoimmunity-Associated Destruction of Pancreatic ?-Cells in a Family of HNF1A-MODY Subjects

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11120%2F13%3A43907232" target="_blank" >RIV/00216208:11120/13:43907232 - isvavai.cz</a>
Result on the web
<a href="http://dx.doi.org/10.1159/000346906" target="_blank" >http://dx.doi.org/10.1159/000346906</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1159/000346906" target="_blank" >10.1159/000346906</a>

Result language
angličtina
Original language name
Should the Negativity for Islet Cell Autoantibodies Be Used in a Prescreening for Genetic Testing in Maturity-Onset Diabetes of the Young The Case of Autoimmunity-Associated Destruction of Pancreatic ?-Cells in a Family of HNF1A-MODY Subjects
Original language description
It was recently suggested that routine islet cell autoantibody testing should be performed to discriminate maturity-onset diabetes of the young (MODY) from type 1 diabetes mellitus (T1DM). This is the first report ever to describe the familial manifestation of T1DM autoimnnunity in nonobese HNF1A-MODY subjects and the presence of islet antigen-2 (IA-2) antibodies in MODY subjects. Three nonobese subjects in an age range of 14-35 years were diagnosed with HNF1A-MODY (p.Arg159Gln mutation). All the testedsubjects had detectable (but varying) levels of islet cell autoantibodies (i.e., antibodies against glutamate decarboxylase or IA-2) in the absence of other T1DM characteristics. They displayed long-term expression of intermediate fasting C-peptide levels, ketoacidosis was absent even in periods of spontaneous insulin withdrawal, and full dependence on externally administered insulin was not detected in any of them although better glycemic control was achieved when insulin was supplemen
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FB - Endocrinology, diabetology, metabolism, nutrition
OECD FORD branch
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Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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