CKD is commonly found in children with OCRL mutations. CKD progression was strongly related to the underlying diagnosis but did not associate with clinical parameters, such as nephrocalcinosis or proteinuria.

We report clinical and molecular characterization of Polish children with DD. Our study suggests that this tubulopathy may be generally under-diagnosed in Poland. The study revealed variable treatments, demonstrating a need for therapeutic guidelines.

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IntroductionPeritoneal dialysis (PD) is a preferred method of renal replacement therapy for end-stage renal disease in children. Recent advances have allowed chronic PD to be provided to children of all ages and sizes.Material and methodsThe study was designed as a national (10 dialysis centres), multicentre retrospective analysis of the medical history of 33 children who started chronic peritoneal dialysis in their infancy between 1993 and 2005, with a follow-up period of at least 24 months.ResultsThe nutritional status of the infants was unsatisfactory. The mean SDS of body weight at the start was –2.0, at 1 year of age –1.7. Only 40% of infants were adequately nourished at 1 year of age. Long-term follow-up analysis showed that 12 children received a kidney transplant, 13 were still on dialysis (4 changed method) and 6 died (mortality rate in the first year of life of 9%). In 2 children we observed an improvement of renal function. We observed a relatively high (1/8.8 patient-months) peritonitis rate in the analysed children when compared to 1 : 22 patient-months in all children undergoing PD in Poland.ConclusionsThe results of our survey have shown that the management of dialysed infants is still a challenge for the medical team and families, but long-term results of the therapy are encouraging.

We found CLCN5 mutations in the vast majority of Polish patients with DD. Proteinuria was the most constant finding; however, tubular proteins were not assessed commonly, likely leading to delayed molecular diagnosis and misdiagnosis in some patients. More consideration should be given to optimize the therapy.