HNF1B MODY

This episode delivers a clinical breakdown of HNF1B-MODY, also known as MODY5, which is characterized by heterozygous mutations in the hepatocyte nuclear factor-1-beta gene. We examine its systemic presentation, highlighting that renal cysts and diabetes syndrome frequently precede carbohydrate intolerance. Listeners will learn to identify structural renal anomalies, genital tract abnormalities, and pancreatic exocrine insufficiency, while understanding why these patients experience early progressive renal failure and require early insulin therapy due to a profound hepatic insulin resistance.