Web proceedings papers

Authors

Nadica Bozhinovska , Sasha Jovanovska Mishevska and Tatjana Milenkovic

Abstract

Maturity onset diabetes of the young (MODY) is one of the most wellknown forms of monogenic diabetes. The three most common forms of MODY are caused by mutations in HNF4A, GCK, and HNF1A. The final diagnosis is made by genetic testing. This is a case presentation that will undoubtedly prove the importance of genetic testing, as an integral part of the everyday clinical medicine. Young male patient, initially diagnosed as type 1 diabetes, went through the public health system for almost a year as a diabetes type 2 patient. He reacted poorly to the prescribed therapy, and a genetic screening for MODY was done, after which he was finally diagnosed as MODY 2. After the diagnosis of MODY his personal life and psychological health improved immeasurably. Even though MODY is well established among physicians, very often the diagnosis is omitted. If genetic testing is not covered by the medical insurance it might be very expensive. This means that MODY patients will not get the proper diagnosis and treatment, which may result in severe psychological and physiological consequences. Our patient’s quality of life, as well as health improved significantly after we established the MODY diagnosis. The importance of the right diagnose in the cases of MODY is not emphasized enough among physicians. Doctor’s should embrace the advantages of modern technology, and make it a part of their everyday clinical practice.

Keywords

MODY 2 Glucokinase Monogenetic diabetes.