| Autor: |
Pedro, Campos Franco, Lucas, Santos de Santana, Aline, Dantas Costa-Riquetto, Augusto Cezar, Santomauro Junior, Alexander A L, Jorge, Milena, Gurgel Teles |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Diabetes Research and Clinical Practice. 187:109875 |
| ISSN: |
0168-8227 |
| DOI: |
10.1016/j.diabres.2022.109875 |
| Popis: |
To describe the clinical and genetic characteristics and long-term follow-up of a cohort with maturity-onset diabetes of the young (MODY), and to evaluate how molecular diagnosis impacted on treatment.A large observational, retrospective, cohort study included individuals referred to the University of São Paulo's Monogenic Diabetes Unit between 2011 and 2020. Comprehensive clinical and genetic evaluations were performed.Overall, 228 individuals (190 GCK-MODY and 38 HNF1A-MODY) were enrolled. Sixty-two different GCK gene mutations (5 novel) and 17 HNF1A gene mutations (2 novel) were found. Data were available on treatment status for 76 index individuals with GCK-MODY. Before molecular diagnosis, nutritional intervention alone was used in 41 cases (53.9%). After molecular diagnosis, this number increased to 72 (94.8%). Glycated haemoglobin (HbAMolecular diagnosis resulted in appropriate adjustment of treatment in approximately 80% of participants with GCK-MODY or HNF1A-MODY. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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Full Text from ScienceDirect