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Bartter syndrome Type IV is a rare subtype of the Bartter syndromes that leads to both severe renal salt wasting and sensorineural deafness. This autosomal recessive disease is caused by mutations in the gene encoding barttin, BSND, an essen- tial subunit of the ClC-K chloride channels expressed in renal and inner ear epithelia. Patients differ in the severity of renal symp- toms, which appears to depend on the modi- fication of channel function by the mutant barttin. To date, only a few BSND mutations have been reported, most of which are mis- sense or nonsense mutations. In this study, we report the identification of the first inser - tion mutation, p.W102Vfs*7, in the BSND gene of a newborn girl with acute clinical symptoms including early-onset chronic re- nal failure. The results support previous data indicating that mutations that are predicted to abolish barttin expression are associated with a severe phenotype and early onset re- nal failure.

Studies examining health-related quality of life (HRQOL) in adults with chronic kidney disease (CKD) have demonstrated that certain clinical situations such as number of hospitalisations and anaemia can affect patient quality of life. Very few such studies have been carried out in children.To analyse the impact of laboratory variables and various clinical situations on HRQOL of paediatric CKD patients.We carried out a cross-sectional study using the TECAVNER questionnaire in 71 children with CKD and their parents (33 transplanted patients, 11 on peritoneal dialysis, 5 on haemodialysis, and 22 on conservative treatment). We analysed laboratory variables (blood urea nitrogen, creatinine, haematocrit, and albumin), clinical situation (short stature, arterial hypertension, and bone deformities), number of hospitalisations, and days spent in the hospital in the previous 6 months, as well as number of drugs administered and fluids/diet restrictions.The factor that most heavily affected the quality of life of our patients was water restrictions. In addition, hypertension affected cognitive function in these children. A haematocrit value35% improved physical activity and functionality. We observed no association between albumin and HRQOL.These results confirm previous hypotheses and contribute to the validity of the TECAVNER questionnaire.

We compared the outcome of second and third kidney allografts with that of the first kidney allograft in pediatric recipients.We classified 173 cadaveric kidney recipients into 2 groups. Group 1 comprised 120 first transplants and group 2 comprised 53 retransplants, including 43 second and 10 third transplants. We compared demographic characteristics and survival in groups 1 and 2.Group 1 consisted of 78 boys and 42 girls with a mean ± SD age of 11.5 ± 4.2 years. Group 2 consisted of 37 boys and 16 girls with a mean age of 10.4 ± 4.7 years. One, 5, 10 and 15-year graft survival rates were 78.7%, 64.3%, 54.5% and 50.7% for first transplants vs 82.8%, 57.8%, 57.8% and 41.3%, respectively, for retransplants (p = 0.757). Patient survival at 1, 5 and 15-year was 95.8%, 89.6%, 84.9% in the first transplant group vs 93.6%, 93.6% and 93.6%, respectively, in the retransplant group (p = 0.0.63). Graft survival was significantly higher in patients who did vs did not receive calcineurin inhibitors in the 2 groups (p = 0.02).Kidney retransplantation in the pediatric population can yield excellent long-term outcomes, especially in patients treated with calcineurin inhibitors.

Background. Mutations in the TRPC6 gene have been reported in six families with adult-onset (17-57 years) autosomal dominant focal segmental glomerulosclerosis (FSGS). Electrophysiology studies confirmed augmented calcium influx only in three of these six TRPC6 mutations. To date, the role of TRPC6 in childhood and adulthood non-familial forms is unknown. Methods. TRPC6 mutation analysis was performed by direct sequencing in 130 Spanish patients from 115 unrelated families with FSGS. An in silico scoring matrix was developed to evaluate the pathogenicity of amino acid substitutions, by using the bio-physical and bio-chemical differences between wild-type and mutant amino acid, the evolutionary conservation of the amino acid residue in orthologues, homologues and defined domains, with the addition of contextual information. Results. Three new missense substitutions were identified in two clinically non-familial cases and in one familial case. The analysis by means of this scoring system allowed us to classify these variants as likely pathogenic mutations. One of them was detected in a female patient with unusual clinical features: mesangial proliferative FSGS in childhood (7 years) and partial response to immunosupressive therapy (CsA + MMF). Asymptomatic carriers of this likely mutation were found within her family. Conclusions. We describe for the first time TRPC6 mutations in children and adults with non-familial FSGS. It seems that TRPC6 is a gene with a very variable penetrance that may contribute to glomerular diseases in a multi-hit setting.

To evaluate the functional results and incidence of complications in a series of pediatric renal transplants using grafts from pediatric donors under 3 years of age.We review a serious of 19 renal transplants consecutively performed in pediatric receptors with donors under the age of 3 years. We analyze immediate function, medical and surgical complications, and long and mid-term graft and patient survivals.We observed initial graft dysfunction in 9 patients (47.4%). Six patients had vascular complications (31.5%). More vascular complications appeared in kidneys preserved with EC solution (35.3%) in comparison with UW solution (23.5%) (p0.05). 1, 5, 10, and 12 year actuarial graft survivals were 57.8%, 41.4%, 35.5% and 35.5%, respectively. Based on preservation solution, 1, 5, and 10 year actuarial graft survivals for EC were 44%, 33% and 16%, respectively; results improved with UW solution up to 60%, 50%, and 50% respectively (p0.001).Kidneys from donors under the age of the 3 years in pediatric receptors suffer a high incidence of vascular complications offering a low graft survival on the long-term, being these facts more evident when simpler preservation solutions are employed.