ARPKD
Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder characterized by dilation of the collecting ducts in the kidneys and fibrosis of the liver, especially the portal areas. The condition typically presents in infancy, though milder cases may appear in childhood. Kidney changes produce enlarged, echogenic kidneys with many small cysts; hepatic involvement is congenital hepatic fibrosis that can progress to portal hypertension. ARPKD results from biallelic mutations in PKHD1, on chromosome 6, which encodes fibrocystin, a protein involved in duct structure and function in kidney and biliary tract.
Genetics and inheritance: ARPKD follows an autosomal recessive pattern. A child must inherit two defective PKHD1
Clinical features and diagnosis: In utero, ARPKD may cause enlarged, hyperechoic kidneys and reduced amniotic fluid.
Management and prognosis: There is no cure; care is supportive and multidisciplinary. Blood pressure control and