autosomal recessive PKD
Autosomal recessive PKD (Polycystic Kidney Disease) is a genetic disorder that primarily affects the kidneys. It occurs when a child inherits two copies of a mutated gene, one from each parent. This condition leads to the formation of numerous cysts in the kidneys, which can disrupt normal kidney function and lead to complications such as kidney failure.
Symptoms of autosomal recessive PKD often appear in infancy or early childhood and may include abdominal pain, high blood pressure, and urinary tract infections. Diagnosis is typically made through imaging tests like ultrasound. Management focuses on monitoring kidney function and addressing any complications that arise.