Maturity-onset Diabetes of the Young (MODY) merupakan bentuk monogenik diabetes yang sering dikelirukan dengan diabetes melitus tipe 1 dan tipe 2. Patofisiologi MODY yaitu adanya mutasi genetik pada faktor transkripsi nukleus dan glucokinase yang mengakibatkan disfungsi sel ß pankreas. Ada beberapa macam subtipe MODY berdasarkan gen yang mengalami mutasi. Diagnosis MODY menggunakan tes genetika, karena penting dalam menentukan penatalaksanaannya.Maturity-onset Diabetes of the Young (MODY) is a monogenic form of diabetes, often misdiagnosed as type 1 or type 2 diabetes mellitus. Pathophysiology of MODY is genetic mutation in nuclear transcription factor and glucokinase, causing pancreatic ß cell dysfunction. There are some subtypes of MODY based on the gene mutations. Genetic test is used to diagnose MODY as it is important to reach diagnosis followed by appropriate treatment. Jefri Pratama Susanto. Maturity-onset Diabetes of theÂ
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