Case Report: Combined Liver-Kidney Transplantation to Correct a Mutation in Complement Factor B in an Atypical Hemolytic Uremic Syndrome Patient.

Pathogenic gain-of-function variants in complement Factor B were identified as causative of atypical Hemolytic Uremic syndrome (aHUS) in 2007. These mutations generate a reduction on the plasma levels of complement C3. A four-month-old boy was diagnosed with hypocomplementemic aHUS in May 2000, and he suffered seven recurrences during the following three years.

Distar Renal Tubular Acidosis (dRTA): Epidemiological, diagnostics, clinical follow-up and therapeutical issues. Nephrologists cohort survey outcome.

Background And Objectives: dRTA is a genetic or acquired rare disease, characterized by an unability to excrete hydrogens (H+) into urine, hypobicarbonatemia, hyperchloremia, and frequently hypercalciuria and hypokalaemia. Genetic forms are usually diagnosed during the first months of life and its treatment is based on providing alkali supplements in order to prevent long term clinical consequences, particularly chronic kidney disease (described in some cohorts up to 82% of dRTA patients) and the associated bone disease. A 10 queries multi choice closed response survey was designed to know more about epidemiological, diagnostics, clinical management and therapeutical issues of this disease among Spanish nephrologists.

Distar Renal Tubular Acidosis (dRTA): Epidemiological, diagnostics, clinical follow-up and therapeutical issues. Nephrologists cohort survey outcome.

Background And Objectives: dRTA is a genetic or acquired rare disease, characterized by an unability to excrete hydrogens (H+) into urine, hypobicarbonatemia, hyperchloremia, and frequently hypercalciuria and hypokalaemia. Genetic forms are usually diagnosed during the first months of life and its treatment is based on providing alkali supplements in order to prevent long term clinical consequences, particularly chronic kidney disease (described in some cohorts up to 82% of dRTA patients) and the associated bone disease. A 10 queries multi choice closed response survey was designed to know more about epidemiological, diagnostics, clinical management and therapeutical issues of this disease among Spanish nephrologists.

Importance of Assessing Compliance with Conservative Treatment of Primary Hyperoxaluria Type 1: A Case Report of a Patient with I244T/c.969-3C>G Mutation.

Introduction: Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited disorder that progresses to end-stage renal disease. Patients experience excessive urinary oxalate excretion, which causes nephrocalcinosis and recurrent urolithiasis. When the glomerular filtration rate declines, calcium oxalate accumulates in extrarenal tissues, causing end-organ damage.

Limited sampling strategies for tacrolimus exposure (AUC0-24) prediction after Prograf(®) and Advagraf(®) administration in children and adolescents with liver or kidney transplants.

To develop limited sampling strategies (LSSs) to predict total tacrolimus exposure (AUC0-24 ) after the administration of Advagraf(®) and Prograf(®) (Astellas Pharma S.A, Madrid, Spain) to pediatric patients with stable liver or kidney transplants. Forty-one pharmacokinetic profiles were obtained after Prograf(®) and Advagraf(®) administration.

Conversion from Prograf to Advagraf in stable paediatric renal transplant patients and 1-year follow-up.

Background: The conversion from Prograf to Advagraf on a 1:1 (mg:mg) basis has been questioned in light of the publication of studies showing a decrease in tacrolimus blood concentrations after the administration of Advagraf.

Methods: The bioavailability of Prograf and Advagraf was evaluated in an open-label conversion study in 21 stable renal transplant paediatric patients. Serial blood samples for determining tacrolimus levels were collected during a 24-h period before (on Prograf) and after (on Advagraf) conversion.

Cytomegalovirus and paediatric renal transplants: is this a current issue?

Objective: An observational retrospective multicentre study of kidney transplants in paediatric patients was performed to evaluate the current situation of cytomegalovirus (CMV) in this population, before our participation in an international clinical trial of prophylaxis for 6 months.

Material And Method: Our study included 239 patients aged <19 years, from 5 Spanish centres between 2005-2009, with 1 year of follow-up.

Results: Pretransplant CMV serology was negative in 54% of recipients and 34.

[Children as receptors of living donors].

The most important factor in life expectancy for children on renal replacement therapy (RRT) is to have a functioning graft when they reach adulthood (63 years  on transplantation vs 37 years on dialysis). The pediatric recipient is very suitable for a living donor transplantation (LDT), with few contraindications. There are several reasons that make LDT the most recommended RRT in children: pre-emptive transplant avoiding dialysis, good renal mass, minimal cold ischemia time, better HLA-matching and the possibility to program the time of surgery.

Acute renal failure due to bilateral pieloureteral stone impaction in a 10-month-old boy.

Urolithiasis (UL) can present with its classic signs and symptoms, such as flank or abdominal pain and gross hematuria. However, atypical complaints can be more common in younger children. We report here a case of bilateral ureteropelvic junction (UPJ) stones in a 10-month-old boy who only showed nonspecific symptoms at the time of presentation.

Anti-GBM and anti-MPO antibodies coexist in a case of pulmonary renal syndrome.

The case of a 12-year-old boy with pulmonary renal syndrome is described. Antimyeloperoxidase (anti-MPO) and antiglomerular basement membrane (anti-GBM) antibodies were positive. The clinical course and immunosuppressive therapy are discussed.