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Background For 10 consecutive years, the ESPN/ERA-EDTA Registry has included data on children with stage 5 chronic kidney disease (CKD 5) receiving kidney replacement therapy (KRT) in Europe. We examined trends in incidence and prevalence of KRT and patient survival. Methods We included all children aged Results Incidence of children commencing KRT Conclusions We found a stable incidence and increasing prevalence of European children on KRT 2007-2016. Five-year patient survival was good and was unchanged over time. These data can inform patients and healthcare providers and aid health policy makers on future resource planning of pediatric KRT in Europe., Author(s): Marjolein Bonthuis [sup.1] , Enrico Vidal [sup.2] , Anna Bjerre [sup.3] , Özlem Aydog [sup.4] , Sergey Baiko [sup.5] , Liliana Garneata [sup.6] , Isabella Guzzo [sup.7] , James [...]

Background The ESPN/ERA-EDTA Registry collects data on European children with end-stage renal disease receiving renal replacement therapy (RRT) who are listed on national and regional renal registries in Europe. In this paper we report on the analysis of demographic data collected from 2009 to 2011. Methods Data on primary renal disease, incidence, prevalence, 4-year survival, transplantation rate and causes of death in paediatric patients receiving RRT were extracted from the ESPN/ERA-EDTA Registry for 37 European countries. Results The incidence of RRT in paediatric patients in Europe during the study period was 5.5 cases per million age-related population (pmarp) in patients aged 0-14 years and varied markedly between countries (interquartile range 3.4 7.0 years). The prevalence of RRT was 27.9 pmarp and increased with age, with 67% of prevalent patients living with a functioning graft. The probability of receiving a transplant within 4 years was 76.9% and was lowest in patients aged 0-4 years (68.9%). Mortality in paediatric patients treated with RRT was 55-fold higher than that of the general EU paediatric population. Overall survival at 4 years was 93.7%, with the poorest survival in patients aged 0-4 years and in patients starting on dialysis. Infections (19.9%) were the primary cause of death in European paediatric RRT patients. Conclusion Considerable variation exists in the current demographics of children treated with RRT across Europe. Keywords Paediatrics * Renal replacement therapy * Chronic kidney failure * Europe * Incidence * Prevalence * Survival, Introduction End-stage renal disease (ESRD) is a very rare condition in children [1]. Information on the number of new cases (incidence), the size of the problem (prevalence) and the outcomes [...]

Steroid-resistant nephrotic syndrome (SRNS) is a severe childhood disorder frequently progressing toward renal failure. Among its genetic causes are mutations in the Wilms tumor gene, WT1, which codes for a transcription factor with key role for the embryonic development of the genitourinary tract as well as for maintaining podocyte differentiation and slit diaphragm structure in adults. Defects in WT1 are associated with sporadic cases of both syndromic and isolated SRNS. We report here a novel WT1 mutation associated with SRNS in a female patient, which leads to a Cys428Ser substitution on protein level, affecting one of the cysteine residues responsible for zinc binding in the second zinc finger domain. Surprisingly, the mutation identified in the patient was found to be inherited from the healthy mosaic mother. The presence of mosaicism was confirmed using quantitative polymerase chain reaction (PCR) high-resolution melting. The clinical implications of this finding for the family are discussed. [ABSTRACT FROM PUBLISHER]