Hepatocyte nuclear factor 1ß (HNF1ß)–associated disease

Disease Overview

Hepatocyte nuclear factor 1 Beta-associated diseases (HNF1B-associated diseases) are a group of genetic conditions that affect the kidney as well as other organ systems.[15280][15281] The most common symptoms are associated with kidney abnormalities. Other signs and symptoms may include diabetes at a young age, genital abnormalities, and problems with pancreas and liver function. Not everyone who has an HNF1B-associated disease will have the same signs and symptoms. HNF1B-associated disease is caused by a mistake (mutation) in the HNF1B gene. This is one of the genes responsible for regulating early development of many of the body’s organs. Mutations in HNF1B are inherited in families in an autosomal dominant pattern. HNF1B-associated disease is diagnosed based on the symptoms, family history and genetic testing. Treatment for this condition is based on the symptoms. Kidney disease and kidney failure may be treated with dialysis and kidney transplant. The long-term outlook for people with HNF1B-associated disease depends on the severity of symptoms.[15280][15281]   

Synonyms

• Hepatocyte nuclear factor 1 beta–associated disease
• Renal cysts and diabetes