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

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

Kathrin Burgmaier  1 , Samuel Kilian  2 , Bert Bammens  3   4 , Thomas Benzing  5   6 , Heiko Billing  7 , Anja Büscher  8 , Matthias Galiano  9 , Franziska Grundmann  5 , Günter Klaus  10 , Djalila Mekahli  11   12 , Laurence Michel-Calemard  13 , Gordana Milosevski-Lomic  14 , Bruno Ranchin  15 , Katja Sauerstein  9 , Susanne Schaefer  16 , Rukshana Shroff  17 , Rosalie Sterenborg  17 , Sarah Verbeeck  12 , Lutz T Weber  1 , Dorota Wicher  18 , Elke Wühl  16 , Jörg Dötsch  1 , Franz Schaefer  16 , Max C Liebau  19   20
Affiliations

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

Kathrin Burgmaier et al. Sci Rep. .

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.

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Conflict of interest statement

M.L. has received honoraria for scientific lectures from Pfizer. Representing the University Hospital of Cologne M.L. has been counselling Otsuka in an advisory board. D.M., represented by KU Leuven University, received an educational grant from Otsuka and participated in an advisory board. K.B., S.K., B.B., T.B., H.B., A.B., M.G., F.G., G.K., L.M., G.M., B.R., K.S., S.S., R.Sh., R.St., S.V., L.W., D.W., E.W., J.D. and F.S. declare no potential conflict of interest.

Figures

Figure 1
Figure 1
(a) Renal phenotype at cross-sectional analysis of 45 adult patients regarding kidney function and sonographic abnormalities. HD = hemodialysis, KTx = kidney transplant graft survival, CLKTx = combined liver and kidney transplant graft survival, CMD = cortex-medulla differentiation, n = number of informative cases with sufficient available data for the specific analysis. (b) Dot plot of age at first documentation of renal abnormalities regarding clinical and sonographic characteristics with median and IQR. Events after KTx/CLKTx were excluded; n = number of informative cases.
Figure 2
Figure 2
(a) Liver-related clinical symptoms and sonographic abnormalities of 39 adult patients without previous LTx/CLKTx at time of cross-sectional analysis; n = number of informative cases. (b) Dot plot of age at first documentation of signs of portal hypertension and/or liver complications with median and IQR. Events after LTx/CLKTx were excluded; n = number of informative cases.
Figure 3
Figure 3
(a) Reasons for initial visit of 45 adult patients and initial symptoms at initial presentation (multiple answering possible). (b) Dot plot of age at first documentation of specific extrarenal and extrahepatic organ manifestations or complications with median and IQR; n = number of informative cases.
Figure 4
Figure 4
Individual courses of CKD and organ replacement therapies of 49 patients with available longitudinal data. Bars indicate length of CKD, dialysis or transplant graft survival. Bars end with age of last documented visit. Asterix indicates analysed visit for cross-sectional analysis. None of the reported patients deceased. “Tx” indicates timepoint of transplantation in color coding. Note that four patients (No. 35, 36, 37, 41) did not have suitable documented visits for cross-sectional analysis.
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