GCK-MODY and HNF1A-MODY are the most common subtypes of Maturity Onset Diabetes of the Young (MODY) [1, 2, 3]. HNF1A-MODY mutation carriers may respond to sulfonylureas, while GCK-MODY does not necessitate therapy; therefore, molecular diagnosis is instrumental to guide therapeutic decision. In many laboratories next-generation sequencing is not available yet, and genetic testing of common MODY genes is performed using Sanger DNA sequencing. Thus, establishing which gene has to be screened first is mainly based on clinician expertise. The results of this study suggest to combine a cut-off of FPG ≤ 150 mg/dl and > 7.3% (56 mmol/mol) for HbA1c to screen HNF1A first, irrespective of other clinical information.
Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing?
Maffeis, Claudio;
2018-01-01
Abstract
GCK-MODY and HNF1A-MODY are the most common subtypes of Maturity Onset Diabetes of the Young (MODY) [1, 2, 3]. HNF1A-MODY mutation carriers may respond to sulfonylureas, while GCK-MODY does not necessitate therapy; therefore, molecular diagnosis is instrumental to guide therapeutic decision. In many laboratories next-generation sequencing is not available yet, and genetic testing of common MODY genes is performed using Sanger DNA sequencing. Thus, establishing which gene has to be screened first is mainly based on clinician expertise. The results of this study suggest to combine a cut-off of FPG ≤ 150 mg/dl and > 7.3% (56 mmol/mol) for HbA1c to screen HNF1A first, irrespective of other clinical information.
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
