Research Project

Project Title:	Late onset PKAR (> 18 years old): phenotype, gentoype and evolution
Project Type:	Observational Study, Enrolment ongoing
Disease group(s):	Congenital malformations & ciliopathies
Project Summary:	Autosomal recessive polycystic disease (PKAR) is a rare disease whose prevalence is estimated at 1/20,000 live births and associates kidney and liver damage of varying severity. This disease is secondary in the majority of cases to pathogenic variants of two genes involving ciliary proteins: the PKHD1 gene and more rarely, the DZIP1L gene. Usually, the disease is revealed in antenatal or in pediatric age by a picture associating early bilateral polycystic kidney disease responsible for renal failure and congenital hepatic fibrosis associated with portal hypertension, often requiring liver and/or kidney transplantation. However, some PKARs are identified only in adulthood, with kidney and/or liver damage often moderate so that the diagnosis is not easily evoked. The characteristics of the slow forms of PKAR presented in adults are very poorly known and little described in the literature. Through this international study, we wish to identify all the cases of PKAR of late revelation (> 18 years old) in order to better describe the renal and hepatic phenotype of these patients, to study the genotype-phenotype relationship and their future in the long term and to compare them to patients diagnosed with ARP in pediatric age and reached adulthood (>18 years).
Lead principal investigator(s):	Dominique Chauveau, Toulouse Colliou Eloise, Toulouse
Co-investigator(s):	C Bureau, Toulouse
Project Period:	01/2023 - 12/2025

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