Search

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.

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.