ADPKD2

Autosomal dominant polycystic kidney disease 2 (ADPKD2), also known as Polycystic kidney disease 2, is a genetic disorder characterized by the development of numerous cysts in the kidneys. These cysts are fluid-filled sacs that can grow over time, leading to kidney enlargement and a decline in kidney function. ADPKD2 is caused by mutations in the PKD2 gene, which is located on chromosome 4. This gene provides instructions for making a protein called polycystin-2, which plays a role in the formation and function of cilia, hair-like structures on the surface of kidney cells. When polycystin-2 is abnormal, it can lead to the formation of cysts.

ADPKD2 is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. Each child of an affected parent has a 50% chance of inheriting the mutated gene and developing ADPKD2. While ADPKD2 shares many similarities with ADPKD1, which is caused by mutations in the PKD1 gene, ADPKD2 generally progresses more slowly and is associated with a less severe clinical course. However, individuals with ADPKD2 can still experience serious complications, including kidney failure, hypertension, and an increased risk of cyst infections and kidney stones. Diagnosis typically involves genetic testing and imaging studies such as ultrasound or CT scans. There is currently no cure for ADPKD2, but treatments focus on managing symptoms and slowing the progression of kidney disease.