الفهرس 
Renaland hepatic phenotypesin autosomal recessive polycystic kidney disease
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Abstract
Background and aim: Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common ciliopathies and is a major cause of end stage kidney disease (ESKD). It is caused by mutations in the PKHD1 gene which encodes fibrocystin protein. It has a wide spectrum of abnormalities known as fibrocystic liver and kidney disease. The aim of this study was to clinically characterize infants and children with ARPKD.Methods:27 patients with ARPKD were enrolled from NICU, Pediatric Nephrology and Hepatology Units, Cairo University. Clinical phenotypes, laboratory and radiological findings of the patients were analyzed. Results: The main frequent renal symptoms were abdominal distension in 44.4% and urinary tract infection in 40.7% of patients followed by bleeding in 22.2% as the most frequent hepatic symptom. Eighteen patients had liver involvement in the form of congenital hepatic fibrosis in 12 patients, Caroli disease/syndrome in 5 patients and one patient with chronic hepatitis. Complications included systemic hypertension, end stage renal disease followed by regular dialysis in 5 patients. Renal transplantation was performed in 2 patients. Hepatic complications included portal hypertension and hypersplenism