التفاصيل البيبلوغرافية
| العنوان: |
Characteristics of maturity onset diabetes of the young in a large diabetes center. |
| المؤلفون: |
Chambers, Christina1, Fouts, Alexandra1, Dong, Fran1, Colclough, Kevin2, Wang, Zhenyuan3, Batish, Sat Dev3, Jaremko, Malgorzata3, Ellard, Sian2, Hattersley, Andrew T2, Klingensmith, Georgeanna1, Steck, Andrea K1 |
| المصدر: |
Pediatric Diabetes. Aug2016, Vol. 17 Issue 5, p360-367. 8p. |
| مصطلحات موضوعية: |
*TYPE 2 diabetes diagnosis, *GENETICS of type 2 diabetes, *AGE factors in disease, *GLYCOSYLATED hemoglobin, *TYPE 2 diabetes, *PEDIATRICS, *RESEARCH funding, *DATA analysis, *DATA analysis software |
| مستخلص: |
Maturity onset diabetes of the young ( MODY) is a monogenic form of diabetes caused by a mutation in a single gene, often not requiring insulin. The aim of this study was to estimate the frequency and clinical characteristics of MODY at the Barbara Davis Center. A total of 97 subjects with diabetes onset before age 25, a random C-peptide ≥0.1 ng/ mL, and negative for all diabetes autoantibodies ( GADA, IA-2, ZnT8, and IAA) were enrolled, after excluding 21 subjects with secondary diabetes or refusal to participate. Genetic testing for MODY 1-5 was performed through Athena Diagnostics, and all variants of unknown significance were further analyzed at Exeter, UK. A total of 22 subjects [20 (21%) when excluding two siblings] were found to have a mutation in hepatocyte nuclear factor 4A (n = 4), glucokinase (n = 8), or hepatocyte nuclear factor 1A (n = 10). Of these 22 subjects, 13 had mutations known to be pathogenic and 9 (41%) had novel mutations, predicted to be pathogenic. Only 1 of the 22 subjects had been given the appropriate MODY diagnosis prior to testing. Compared with MODY-negative subjects, the MODY-positive subjects had lower hemoglobin A1c level and no diabetic ketoacidosis at onset; however, these characteristics are not specific for MODY. In summary, this study found a high frequency of MODY mutations with the majority of subjects clinically misdiagnosed. Clinicians should have a high index of suspicion for MODY in youth with antibody-negative diabetes. [ABSTRACT FROM AUTHOR] |
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