Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease

• DOI: 10.1016/j.ekir.2022.04.095
• Publication Date: 2022-05-04T12:40:42Z
• Authors: Ramona Ajiri; Kathrin Burgmaier; Nurver Akinci; Ilse Broekaert; Anja Büscher; Ismail Dursun; Ali Duzova; Loai Akram Eid; Marc Fila; Michaela Gessner; Ibrahim Gokce; Laura Massella; Antonio Mastrangelo; Monika Miklaszewska; Larisa Prikhodina; Bruno Ranchin; Nadejda Ranguelov; Rina Rus; Lale Sever; Julia Thumfart; Lutz Thorsten Weber; Elke Wühl; Alev Yilmaz; Jörg Dötsch; Franz Schaefer; Max Christoph Liebau
• Keywords: Interquartile range

Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disorder characterized by early onset fibrocystic hepatorenal changes. Previous reports have documented pronounced phenotypic variability even among siblings in terms of patient survival. The underlying causes for this clinical are incompletely understood.We present the longitudinal courses 35 sibling pairs included ARPKD registry study ARegPKD, encompassing data on primary manifestation, prenatal and perinatal findings, genetic testing, family history, including function, liver involvement, radiological findings.We identified 70 from families with median age 0.7 (interquartile range 0.1-6.0) years at initial diagnosis follow-up time 3.5 (0.2-6.2) years. Data PKHD1 variants were available 37 patients 21 families. There 8 7 who required replacement therapy (KRT) during follow-up. For 44 26 families, antihypertensive was documented. Furthermore, 24 had signs portal hypertension 9 6 having substantial hepatic complications. Interestingly, course functional only 3 pairs. In 17 20 our cohort neonatal survivors, minor differences function comparable age.In surviving period, revealed diseases most suggest strong impact genotype.