ESPN 50th Annual Meeting

ESPN 2017

Autosomal Recessive Polycystic Kidney Disease (ARPKD) in the UK National Registry of Rare Kidney Diseases (RaDaR)



Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic condition that causes cysts to develop in the liver and kidneys. It is usually first diagnosed in infancy and affects approximately 1 in 20,000 live births. It is distributed amongst boys and girls and can cause death in the first month of life. As the condition has multisystem effects, a comprehensive care strategy requires a multidisciplinary team and detailed data collection. This abstract describes data collected by the ARPKD Rare Disease Group via the National Registry of Rare Kidney Diseases (RaDaR) in the UK. 

Material and methods:


Data is entered retrospectively from the patient’s medical records following consent. The dataset is defined by the UK Renal Registry in association with over 20 Rare Disease Groups, made up of experts in each eligible condition. Data fields include demographics, blood and urine results, medications, transplant and dialysis history, genetics and co-morbidities. The inclusion criteria are open to all ARPKD patients including Congenital Hepatic Fibrosis and Caroli Syndrome with kidney malformation or cyst allowing comparisons between a long-term survivor subset and a cohort that included both neonatal survivors.


108 ARPKD patients from 31 UK renal units have been consented to date with an age range of 1 week to 65 years. There are 54 (50%) paediatric (under 16) patients with an average age of 8 years and 54 (50%) adult patients with an average age of 39 years. There are 50 females (46%) and 58 males (54%) males.





RaDaR holdsthe largest single cohort of ARPKD patients collected to date in the UK. It provides an important epidemiology data on ARPKD patients which is shared amongst the members of the Rare Disease Group to progress further research into this rare disorder and to develop best practice treatment guidelines and improve the quality of care for these patients.