Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease

Creative Commons License

Ajiri R., Burgmaier K., Akinci N., Broekaert I., Buescher A., DURSUN İ., ...More

KIDNEY INTERNATIONAL REPORTS, vol.7, no.7, pp.1643-1652, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 7 Issue: 7
  • Publication Date: 2022
  • Doi Number: 10.1016/j.ekir.2022.04.095
  • Journal Name: KIDNEY INTERNATIONAL REPORTS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, Directory of Open Access Journals
  • Page Numbers: pp.1643-1652
  • Keywords: ARPKD, Ciliopathies, DZIP1L, Fibrocystin, PKD, PKHD1, CONGENITAL HEPATIC-FIBROSIS, RENAL-TRANSPLANTATION, CLINICAL-EXPERIENCE, PRENATAL-DIAGNOSIS, CHILDREN, ARPKD, MUTATIONS, GENETICS, LIVER
  • Istanbul University Affiliated: Yes

Abstract

Introduction: 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 variability are incompletely understood.