Introduction: Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic characterization in a cohort of 30 patients, one of the largest series described. By comparing with other published populations, and considering that 80% of our patients presented the p.
View Article and Find Full Text PDFRenal transplantation is the treatment of choice for children with ESRD offering advantages of improved survival, growth potential, cognitive development, and quality of life. The aim of our study was to compare the outcomes of LDKT vs DDKT performed in children at a single center. Retrospective chart review of pediatric patients who underwent kidney transplantation from 2005 to 2014 was performed.
View Article and Find Full Text PDFBackground: Dense-deposit disease (DDD) is a rare glomerulopathy characterized by electron-dense deposits in the glomerular basement membrane. About 50 % of patients with DDD progress to end-stage kidney disease and require dialysis within 10 years of diagnosis, and the disease often recurs after renal transplantation.
Case-diagnosis/treatment: We describe a 14-year-old girl with recurrent DDD in her transplanted kidney.
The p.Ala204Thr mutation (exon 7) of the CLCNKB gene is a "founder" mutation that causes most of type III Bartter syndrome cases in Spain. We performed genetic analysis of the CLCNKB gene, which encodes for the chloride channel protein ClC-Kb, in a cohort of 26 affected patients from 23 families.
View Article and Find Full Text PDFBackground: Chronic humoral rejection is a progressive form of graft injury, with defined diagnostic criteria, the crucial one being the evidence of circulating anti-donor antibodies. These antibodies are mainly directed against human leucocyte antigens (HLA), but other targets have also been described. We previously reported that antibodies against the Glutathione S-transferase T1 (GSTT1) enzyme appear in recipients without the GSTT1 gene who receive a graft from a GSTT1-positive donor.
View Article and Find Full Text PDFWe analyzed the frequency of vesicoureteral reflux and the factors that favor its appearance after kidney transplantation in pediatric patients. This retrospective analysis examined the prevalence of post-transplant vesicoureteral reflux in a total of 181 kidney transplants performed in children at our center between 1978 and 2004. In patients who required corrective surgery for this problem, we analyzed pretransplant residual diuresis, pretransplant pathology and post-transplant problems related to vesicoureteral reflux.
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