Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Sci Rep. 2019 May 28;9(1):7919. doi: 10.1038/s41598-019-43488-w.

Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is a severe pediatric hepatorenal disorder with pronounced phenotypic variability. A substantial number of patients with early diagnosis reaches adulthood and some patients are not diagnosed until adulthood. Yet, clinical knowledge about adult ARPKD patients is scarce. Here, we describe forty-nine patients with longitudinal follow-up into young adulthood that were identified in the international ARPKD cohort study ARegPKD. Forty-five patients were evaluated in a cross-sectional analysis at a mean age of 21.4 (±3.3) years describing hepatorenal findings. Renal function of native kidneys was within CKD stages 1 to 3 in more than 50% of the patients. Symptoms of hepatic involvement were frequently detected. Fourteen (31%) patients had undergone kidney transplantation and six patients (13%) had undergone liver transplantation or combined liver and kidney transplantation prior to the visit revealing a wide variability of clinical courses. Hepatorenal involvement and preceding complications in other organs were also evaluated in a time-to-event analysis. In summary, we characterize the broad clinical spectrum of young adult ARPKD patients. Importantly, many patients have a stable renal and hepatic situation in young adulthood. ARPKD should also be considered as a differential diagnosis in young adults with fibrocystic hepatorenal disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Cross-Sectional Studies
  • Female
  • Humans
  • Kidney / physiopathology*
  • Kidney Transplantation
  • Liver / physiopathology
  • Liver Cirrhosis / etiology*
  • Liver Cirrhosis / physiopathology
  • Liver Cirrhosis / therapy
  • Liver Transplantation
  • Longitudinal Studies
  • Male
  • Polycystic Kidney, Autosomal Recessive / complications*
  • Polycystic Kidney, Autosomal Recessive / physiopathology
  • Polycystic Kidney, Autosomal Recessive / therapy*
  • Renal Insufficiency, Chronic / etiology
  • Renal Insufficiency, Chronic / physiopathology
  • Renal Insufficiency, Chronic / therapy
  • Young Adult