Liver disease in autosomal recessive polycystic kidney disease


The finding of chronic liver disease with portal venous hypertension including marked varices was unexpected in this patient with renal cysts only detected during her 3rd decade.

Apart from cyst, kidneys and kidney function are normal in this patient. As an unusual and extremely late presentation, this case highlights the inverse relationship with the severity of associated congenital hepatic fibrosis. In cases who present early i.e. in the perinatal or neonatal period, renal disease is the hallmark.  In older patients (infants, teenagers) liver disease is the main contributor to the clinical picture.