Management of bone disease in cystinosis: Statement from an international conference.

Cystinosis is an autosomal recessive storage disease due to impaired transport of cystine out of lysosomes. Since the accumulation of intracellular cystine affects all organs and tissues, the management of cystinosis requires a specialized multidisciplinary team consisting of pediatricians, nephrologists, nutritionists, ophthalmologists, endocrinologists, neurologists' geneticists, and orthopedic surgeons. Treatment with cysteamine can delay or prevent most clinical manifestations of cystinosis, except the renal Fanconi syndrome.

Urinary tract effects of HPSE2 mutations.

Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a heparanase 1 inhibitor, occur in UFS, but knowledge about the HPSE2 mutation spectrum is limited. Here, seven UFS kindreds with HPSE2 mutations are presented, including one with deleted asparagine 254, suggesting a role for this amino acid, which is conserved in vertebrate orthologs.

LRIG2 mutations cause urofacial syndrome.

Urofacial syndrome (UFS) (or Ochoa syndrome) is an autosomal-recessive disease characterized by congenital urinary bladder dysfunction, associated with a significant risk of kidney failure, and an abnormal facial expression upon smiling, laughing, and crying. We report that a subset of UFS-affected individuals have biallelic mutations in LRIG2, encoding leucine-rich repeats and immunoglobulin-like domains 2, a protein implicated in neural cell signaling and tumorigenesis. Importantly, we have demonstrated that rare variants in LRIG2 might be relevant to nonsyndromic bladder disease.

Improvement in the renal prognosis in nephropathic cystinosis.

Background And Objectives: Nephropathic cystinosis (NC) is an autosomal recessive disorder occurring in one to two per 100,000 newborns. Because of the rarity of NC, long-term outcome data are scarce.

Design, Setting, Participants, & Measurements: 245 NC patients from 18 countries provided data to the ESPN/ERA-EDTA registry.

Demographics of blood pressure and hypertension in children on renal replacement therapy in Europe.

Hypertension is a well-known complication in children on renal replacement therapy and an important risk factor for cardiovascular disease in later life. In order to define the prevalence of and risk factors for hypertension among children, we enrolled 3337 pediatric patients from 15 countries in the ESPN/ERA-EDTA Registry of whom 464 were on hemodialysis, 851 on peritoneal dialysis, and 2023 had received a renal allograft. Hypertension was defined as either systolic or diastolic blood pressures in the 95th percentile or greater for age, height, and gender or use of antihypertensive medication.

Antithymocyte treatment of steroid-resistant acute rejection in renal transplantation.

To evaluate the outcome of early (ER <3 months) and late (LR >3 months) episodes of corticosteroid resistant acute allograft rejection (CRR) treated with anti-thymocyte globulin (ATG) in pediatric renal allograft recipients. Retrospective study of 15 children, mean age 13.2 y, who received ATG for the treatment of biopsy proven CRR over a 15 year period.

Transition to adult services for children with renal failure: age or ability to cope?

Established renal failure is a manageable but incurable problem. Safely transitioning young people from paediatric to adult services remains a major challenge.

UK Renal Registry 12th Annual Report (December 2009): chapter 14: demography of the UK paediatric renal replacement therapy population in 2008.

Aims: To describe the demographics of the paediatric RRT population in the UK and analyse changes in demographics with time.

Methods: Extraction and analysis of data from the UK Paediatric Renal Registry and the UK Renal Registry (UKRR).

Results: The UK paediatric established renal failure (ERF) population in December 2008 was 905 patients.

Intravenous methylprednisolone in idiopathic childhood nephrotic syndrome.

The aim of our study was to determine the clinical course of children with idiopathic childhood nephrotic syndrome (ICNS) who received intravenous methylprednisolone (ivMP) following failure to achieve remission with standard oral prednisolone therapy. This study was designed as a retrospective case record review from 1993 to 2007. Sixteen children received ivMP over the 15-year study period, of whom ten responded, achieving clinical remission.

UK Renal Registry 11th Annual Report (December 2008): Chapter 13 Demography of the UK paediatric renal replacement therapy population.

Aims: To describe the demographics of the paediatric RRT population in the UK and analyse changes in demographics with time.

Methods: Extraction and analysis of data from the UK paediatric Renal Registry.

Results: The UK paediatric established renal failure (ERF) population in April 2008 was 875 patients.

Demography of renal disease in childhood.

The demography of renal failure in childhood is examined through an analysis of the UK Renal Registry data on patients in established renal failure (ERF) and studies of chronic kidney disease populations. The predominant cause is renal dysplasia and related conditions. Congenital obstructive uropathy is the third largest group overall and the second in early childhood.

Successful renal transplantation in children in the presence of thrombosis of the inferior vena cava.

Thrombosis of the inferior vena cava (IVC) has previously been considered to be a contraindication to renal transplantation in children because of the technical difficulties associated with surgery and the increased risk of graft thrombosis. We report three children with previous IVC thrombosis who underwent renal transplantation at our institution over the last 5 years. The pretransplant imaging of these patients included direct venography or magnetic resonance venography to evaluate venous outflow.

Outcome of Henoch-Schönlein purpura nephritis treated with long-term immunosuppression.

This retrospective study investigated the outcome of 27 children (19 male) with Henoch-Schönlein purpura nephritis (HSN) of International Study of Kidney Disease in Children (ISKDC) grade 3b or higher treated with long-term immunosuppressive therapy in a single centre over a 10-year period. The mean age at presentation was 9.7 years.

Accuracy of ultrasonic detection of renal scarring in different centres using DMSA as the gold standard.

Background: There is an ongoing debate over the radiological investigations of children with urinary tract infections (UTIs) with some authorities suggesting that ultrasound scan (USS) alone is an accurate tool to diagnose renal parenchymal scarring post-pyelonephritis. All studies on this subject have been performed at paediatric teaching centres whereas most children with UTIs are managed by General Paediatricians in District General Hospitals (DGHs) in the United Kingdom. We wished to identify whether results of scans in DGHs differed from those in teaching centres.

Percutaneous real-time ultrasound-guided renal biopsy by automated biopsy gun in children: safety and complications.

Background: Percutaneous renal biopsy under real time ultrasound guidance is a routine procedure in pediatric nephrology and allows a histological diagnosis to be made in children with evidence of renal disease.

Methods: Retrospective case note review.

Results: Over four years 191 renal biopsies were attempted in 116 patients; 186 biopsies were performed successfully: 102 native and 84 renal allografts.

Nurse bullying: organizational considerations in the maintenance and perpetration of health care bullying cultures.

Aim: To examine bullying within nursing from a micro-sociological perspective and elucidate interactive mechanisms contributing to its causes and continuation within the nursing profession.

Background: The paper is part of a doctoral research study into bullying within nursing. It considers issues pertinent to management, and in the role of negotiated interactions within the National Health Service when dealing with bullying problems.

Long-term outcome of meningococcal sepsis-associated acute renal failure.

Setting: Twenty-one of 209 children admitted to the intensive care unit with meningococcal septicemia developed oliguric acute renal failure necessitating renal replacement therapy.

Patients: Twelve survivors underwent renal assessment at a median of 4.2 yrs postpresentation.

Complete necrosis of allograft ureter after cadaveric renal transplantation.

Complete necrosis of a transplant ureter is a rare complication that needs to be considered early in cases of severe graft dysfunction if successful surgical intervention and restoration of graft function is to be achieved. We report on two cases of this complication occurring in children and discuss the surgical management. Surgical exploration of grafts where there is an early sudden decline in function is imperative as routine imaging will not exclude this potentially treatable problem.

Serum leptin and IGF-I during growth hormone treatment in chronic renal failure.

Serum leptin decreases during growth hormone (hGH) treatment and pre-treatment values have been suggested as a predictor of the response to hGH in GH deficiency (GHD) but not in non-GHD syndromes. To investigate whether this holds true in children with chronic renal failure (CRF), we evaluated changes in serum leptin, insulin-like growth factor-I (IGF-I) and height before(b) and during the 1st year (3 months, 6 months, 9 months, 12 months) of hGH treatment (1 IU/kg per week) in 11 children (median age(b) 10.1 years, mean height(b) -2.