Fibropolycystic disease of the liver and kidney in Oman

Abstract

Background and study aimsFibropolycystic disease of liver and kidney (FPCDLK) is an uncommon group of conditions inherited in an autosomal fashion. The group encompasses autosomal dominant polycystic disease of the kidney (ADPDK), autosomal recessive polycystic disease of the kidney (ARPDK), congenital hepatic fibrosis (CHF) and Caroli’s disease (CD). There are limited data of this disease in the world. We report our experience in the Royal Hospital (RH) in Oman and data regarding long-term follow-up.The aim of the study was to document the frequency of encounter, clinical presentation and outcome of FPCDLK in Division of Child Health in RH, Muscat. Patients and methodsCharts of patients diagnosed with ARPDK, ADPDK, CHF and CD were reviewed from the period of 16 February 2006 till 31 December 2011. Parameters including anthropometry, liver function tests, renal function tests, presence of oesophageal varices, hypersplenism, renal or liver transplantation and performance of porto-systemic shunt surgeries were all investigated. ResultsA total of 33 patients were identified, including 19 males and 14 females. The frequency of encounter of FPCDLK in RH was 1.5/1,000,000 population. The mean age of patients was 7.4years. The mean age at diagnosis was 27months. The mean duration of follow-up was 5.5years. A total of 31% of patients had an incidental finding of hepatomegaly, and 25% were detected by antenatal screening. Three children presented with renal failure, and 13 children in total had renal function abnormalities by the end of the study period. One child presented with haematemesis at the age of 1year. Two children underwent renal transplant and one child required splenectomy with a splenorenal shunt. A total of 54% had endoscopic variceal screen and two required banding on first endoscopy. The demise of one patient was observed during the study. ConclusionFPCDLK is uncommon in Oman but carries major mortality and morbidity for the patient and family. The gene is present in the Gulf countries. Management is mainly through portal hypertension and renal supportive care until definitive dual organ transplant. This disease needs to be further investigated in the Arab world.