The influence of clinical situation on health-related quality of life in paediatric chronic kidney disease patients.

Background: 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.

Objective: To analyse the impact of laboratory variables and various clinical situations on HRQOL of paediatric CKD patients.

Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene.

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 essential subunit of the ClC-K chloride channels expressed in renal and inner ear epithelia. Patients differ in the severity of renal symptoms, which appears to depend on the modification of channel function by the mutant barttin.

Cadaver donor kidney retransplantation in the pediatric patient: complications and long-term outcome.

Purpose: We compared the outcome of second and third kidney allografts with that of the first kidney allograft in pediatric recipients.

Materials And Methods: 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.

Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.

Mutations in the NPHS1 gene cause congenital nephrotic syndrome of the Finnish type presenting before the first 3 months of life. Recently, NPHS1 mutations have also been identified in childhood-onset steroid-resistant nephrotic syndrome and milder courses of disease, but their role in adults with focal segmental glomerulosclerosis remains unknown. Here we developed an in silico scoring matrix to evaluate the pathogenicity of amino-acid substitutions using the biophysical and biochemical difference between wild-type and mutant amino acid, the evolutionary conservation of the amino-acid residue in orthologs, and defined domains, with the addition of contextual information.

TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.

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.

[Results of the use of donors under 3 years of age for pediatric renal transplantation].

Objectives: 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.

Methods: 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.