Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic illness that mostly affects babies and kids. It happens in roughly 1 in 20,000 births. ARPKD is caused by mutations in the PKHD1 gene that are passed down from both parents. These abnormalities cause cysts filled with fluid to grow in the kidneys and liver in an unusual way. Symptoms can start at different times and be different levels of severity. For example, life-threatening problems might happen quickly after birth, like breathing problems caused by underdeveloped lungs and enlarged kidneys. Milder versions can show up later in childhood or adolescence.
Children with this condition generally have swollen, brittle kidneys, high blood pressure, frequent urination, and poor kidney function. These problems can become worse and lead to chronic kidney disease (CKD). If the liver is involved, it could cause congenital hepatic fibrosis, portal hypertension, and significant internal bleeding. About 30% of newborns with severe ARPKD may die within their first week. Those who survive usually need medical care for the rest of their lives, and in severe cases, they may need a kidney or liver transplant. People affected by ARPKD can significantly improve their quality of life and recovery chances with early diagnosis and ongoing care.