Which renal pathology is autosomal recessive and commonly associated with hepatic fibrosis and portal hypertension in juvenile form?

Which renal pathology is autosomal recessive and commonly associated with hepatic fibrosis and portal hypertension in juvenile form?

• A. ADPKD
• B. Nephrocalcinosis
• C. ARPKD
• D. Medullary Sponge Kidney

Answer: (C)

Autosomal recessive polycystic kidney disease is the renal condition that fits this description. It presents in infancy or childhood and is caused by biallelic mutations, so both parents are usually carriers. The kidney disease arises from dilated collecting ducts, giving the kidneys a markedly echogenic, enlarged appearance with loss of corticomedullary differentiation on ultrasound. The hepatic problem is congenital hepatic fibrosis, a fibrotic process around the portal tracts that leads to portal hypertension in the juvenile form. So the key link is a recessive kidney disease with significant early hepatic fibrosis and consequent portal hypertension. This differs from other options: autosomal dominant polycystic kidney disease typically presents later in life and is associated with liver cysts rather than congenital hepatic fibrosis; nephrocalcinosis involves calcium deposition in the kidneys without the congenital hepatic fibrosis; medullary sponge kidney is a collecting duct malformation of the medulla without the hepatic fibrosis/portal hypertension association.

Autosomal recessive polycystic kidney disease is the renal condition that fits this description. It presents in infancy or childhood and is caused by biallelic mutations, so both parents are usually carriers. The kidney disease arises from dilated collecting ducts, giving the kidneys a markedly echogenic, enlarged appearance with loss of corticomedullary differentiation on ultrasound. The hepatic problem is congenital hepatic fibrosis, a fibrotic process around the portal tracts that leads to portal hypertension in the juvenile form. So the key link is a recessive kidney disease with significant early hepatic fibrosis and consequent portal hypertension.

This differs from other options: autosomal dominant polycystic kidney disease typically presents later in life and is associated with liver cysts rather than congenital hepatic fibrosis; nephrocalcinosis involves calcium deposition in the kidneys without the congenital hepatic fibrosis; medullary sponge kidney is a collecting duct malformation of the medulla without the hepatic fibrosis/portal hypertension association.