“…The variant c.2702A>C has been previously reported in a large cohort of pediatric patients with autosomal recessive polycystic kidney disease (ARPKD), at compound heterozygous status (Melchionda et al, 2016) and more recently the same variant has been reported in literature as a compound heterozygote with other missense variants, in an adult patient with chronic kidney disease (CKD) of unknown etiology, who also presented a congenital hepatic fibrosis (Connaughton et al, 2019). The second variant c.4870C>T, found in the family, has been already previously detected in patients affected by ARPKD with other clinical manifestations such as developmental and speech delay, hepatomegaly, gallbladder stones, dilated segmental intrahepatic biliary radicles (Alfares et al, 2017); as this variant has been observed with high frequency in individuals living in the Middle East region, it is supposed to have a possible founder effect (Al Alawi et al, 2020).…”