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

Burgmaier K, Kilian S, Bammens B, Benzing T, Billing H, Buescher A, Galiano M, Grundmann F, Klaus G, Mekahli D, Michel-Calemard L, Milosevski-Lomic G, Ranchin B, Sauerstein K, Schaefer S, Shroff R, Sterenborg R, Verbeeck S, Weber LT, Wicher D, Wuehl E, Doetsch J, Schaefer F, Liebau MC (2019)

Publication Type: Journal article

Publication year: 2019

Journal

Scientific Reports Nature Publishing Group: Open Access Journals - Option B

Book Volume: 9

Pages Range: 7919-

Journal Issue: 1

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.

Involved external institutions

Universitätsklinikum Köln DE Germany (DE) Universitätsklinikum Gießen und Marburg (UKGM) DE Germany (DE) Ruprecht-Karls-Universität Heidelberg DE Germany (DE) University Children's Hospital / Univerzitetska dečja klinika u Beogradu (Tiršova) RS Serbia (RS) Children's Memorial Health Institute / Instytut "Pomnik - Centrum Zdrowia Dziecka" PL Poland (PL) Great Ormond Street Hospital (GOSH) GB United Kingdom (GB) University Hospital Leuven (UZ) / Universitaire ziekenhuizen Leuven BE Belgium (BE) Hospices Civils de Lyon (CHU) FR France (FR) Katholieke Universiteit Leuven (KUL) / Catholic University of Leuven BE Belgium (BE) Universitätsklinikum Tübingen DE Germany (DE) Universitätsklinikum Essen DE Germany (DE) Universität zu Köln DE Germany (DE)

How to cite

APA:

Burgmaier, K., Kilian, S., Bammens, B., Benzing, T., Billing, H., Buescher, A.,... Liebau, M.C. (2019). Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD). Scientific Reports, 9(1), 7919-. https://dx.doi.org/10.1038/s41598-019-43488-w

MLA:

Burgmaier, Kathrin, et al. "Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)." Scientific Reports 9.1 (2019): 7919-.

BibTeX: Download