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Timing of renal replacement therapy does not influence survival and growth in children with congenital nephrotic syndrome caused by mutations in NPHS1: data from the ESPN/ERA-EDTA Registry

Abstract

Background

Congenital nephrotic syndrome (CNS) of the Finnish type, NPHS1, is the most severe form of CNS. Outcomes of renal replacement therapy (RRT) in NPHS1 patients in Europe were analysed using data from the ESPN/ERA-EDTA Registry. As NPHS1 is most prevalent in Finland and the therapeutic approach differs from that in many other countries, we compared outcomes in Finnish and other European patients.

Methods

NPHS1 mutations were confirmed in 170 children with CNS who initiated RRT (dialysis or renal transplantation) between 1991 and 2012. Finnish (n = 66) and non-Finnish NPHS1 patients (n = 104) were compared with respect to treatment policy, age at first RRT and renal transplantation (RTX), patient and graft survival, estimated glomerular filtration rate (eGFR) and growth. Age-matched patients with congenital anomalies of the kidney and urinary tract (CAKUT) served as controls.

Results

Finnish NPHS1 patients were significantly younger than non-Finnish patients, both at the start of RRT and at the time of RTX. We found similar overall 5-year patient survival on RRT (91 %) and graft survival (89 %) in both NPHS1 groups and CAKUT controls. At the start of RRT, height standard deviation score (SDS) was higher in Finnish patients than in non-Finnish patients (mean [95 % CI]: −1.31 [−2.13 to −0.49] and −3.0 [−4.22 to −1.91], p < 0.01 respectively), but not at 5 years of age. At 5 years of age height and body mass index (BMI) SDS were similar to those of CAKUT controls.

Conclusions

Overall, 5-year patient and graft survival of both Finnish and non-Finnish NPHS1 patients on RRT were excellent and comparable with CAKUT patients with equally early RRT onset and was independent of the timing of RRT initiation and RTX.

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Acknowledgments

We would like to thank the patients, their parents and the staff of all the dialysis and transplant units who have contributed data via their national registries and contact persons. We also would like to thank E Levtchenko, D Haffner, Z Massy and C Stefanidis for being members of the ESPN/ERA-EDTA Registry Committee; D Shitza, R Kramar, G Mayer, S Baiko, A Sukalo, K van Hoeck, F Collart, JM des Grottes, D Pokrajac, D Roussinov, D Batinić, M Lemac, J Slavicek, D Milosevic, A Elia, T Seeman, K Vondrak, JG Heaf, U Toots, P Finne, C Grönhagen-Riska, C Couchoud, M Lassalle, E Sahpazova, N Abazi, T Davitaia, B Tönshoff, K Krupka, B Höcker, L Pape, G von Gersdorff, C Scholz, N Afentakis, A Kapogiannis, N Printza, G Reusz, CS Berecki, A Szabó, T Szabó, ZS Györke, E Kis, R Palsson, V Edvardsson, B Gianoglio, S Maringhini, C Pecoraro, S Picca, S Testa, E Vidal, E Verrina, S Rudaitis, A Jankauskiene, V Said-Conti, S Gatcan, O Berbeca, N Zaikova, S Pavićević, T Leivestad, A Bjerre, A Zurowska, I Zagozdzon, C Mota, M Almeida, C Afonso, G Mircescu, L Garneata, EA Molchanova, NA Tomilina, BT Bikbov, M Kostic, A Peco-Antic, B Spasojevic-Dimitrijeva, G Milosecski-Lomic, D Paripovic, S Puric, D Kruscic, L Podracka, G Kolvek, N Battelino, G Novljan, J Buturovic-Ponikvar, A Alonso Melgar and the Spanish Pediatric Registry; S Schön, KG Prütz, L Backmän, M Evans, M Stendahl, B Rippe, CE Kuenhi, E Maurer, GF Laube, S Tschumi, P Parvex, M Hemmelder, A Hemke, and all centres participating in the RichQ study; R Topaloglu, A Duzova, D Ivanov, A Hamilton, R Pruthi, F Braddon, A Casula, MD Sinha, for contributing data to the ESPN/ERA-EDTA Registry.

The ESPN/ERA-EDTA Registry is funded by the European Society of Pediatric Nephrology (ESPN), the European Renal Association and European Dialysis and Transplant Association (ERA-EDTA) and the European Commission.

This article was written by Tuula Hölttä, Marjolein Bonthuis, Karlijn J van Stralen, Anna Bjerre, Rezan Topaloglu, Fatih Ozaltin, Christer Holmberg, Jerome Harambat, Kitty J Jager, Franz Schaefer, Jaap W Groothoff on behalf of the ESPN/ERA-EDTA Registry and the ERA-EDTA registry, which is an official body of the ERA-EDTA (European Renal Association/European Dialysis and Transplant Association).

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Correspondence to Marjolein Bonthuis.

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Tuula Hölttä, Marjolein Bonthuis, Franz Schaefer and Jaap W. Groothoff contributed equally to this work

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Hölttä, T., Bonthuis, M., Van Stralen, K.J. et al. Timing of renal replacement therapy does not influence survival and growth in children with congenital nephrotic syndrome caused by mutations in NPHS1: data from the ESPN/ERA-EDTA Registry. Pediatr Nephrol 31, 2317–2325 (2016). https://doi.org/10.1007/s00467-016-3517-z

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Keywords

  • Congenital nephrotic syndrome
  • NPHS1
  • Kidney transplantation
  • Graft survival
  • Dialysis
  • Pediatrics