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Epithelia permit selective and regulated flux from apical to basolateral surfaces by transcellular passage through cells or paracellular flux between cells. Tight junctions constitute the barrier to paracellular conductance; however, little is known about the specific molecules that mediate paracellular permeabilities. Renal magnesium ion (Mg2+) resorption(More)
Antenatal Bartter syndrome (aBS) comprises a heterogeneous group of autosomal recessive salt-losing nephropathies. Identification of three genes that code for renal transporters and channels as responsible for aBS has resulted in new insights into renal salt handling, diuretic action and blood-pressure regulation. A gene locus of a fourth variant of aBS(More)
Acute kidney injury (AKI) is a common syndrome that is independently associated with increased mortality. A standardized definition is important to facilitate clinical care and research. The definition of AKI has evolved rapidly since 2004, with the introduction of the Risk, Injury, Failure, Loss, and End-stage renal disease (RIFLE), AKI Network (AKIN), and(More)
Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive spondylo-epiphyseal dysplasia. The characteristic features of SIOD include 1) short stature with hyperpigmented macules and an unusual facies, 2) proteinuria with progressive renal failure, 3) lymphopenia with recurrent infections, and 4) cerebral ischaemia. Although 25 patients have been(More)
A prospective study of the clinical and epidemiological features of the haemolytic uraemic syndromes was conducted over a three year period in the British Isles. Two hundred and ninety eight children were reported. In two thirds of cases stool samples were analysed for the presence of Verocytotoxin producing Escherichia coli (VTEC) and neutralisable(More)
In a three year study of children under 16 years with haemolytic uraemic syndrome faecal samples were examined for the presence of Verocytotoxin producing Escherichia coli (VTEC) using DNA probes and for free neutralisable Verocytotoxin in a Vero cell assay with specific antisera. There was evidence of VTEC infection in 58 of 185 (31%) samples. A total of(More)
Antineutrophil cytoplasmic antibody (ANCA)-associated glomerulonephritis and systemic vasculitis (AAGNV) is uncommon in childhood. This is a retrospective study of AAGNV cases diagnosed over a 13-year period in a tertiary pediatric nephrology department. Thirteen cases of AAGNV were identified: seven Wegener granulomatosis (WG) and six microscopic(More)
BACKGROUND Verocytotoxin-producing (Shiga-like toxin-producing) Escherichia coli infection is the principal cause of hemolytic uremic syndrome (HUS). The pathogenesis is unclear, and there is a need for animal models. These are impeded by the different distribution of verocytotoxin receptors between species. We have circumvented this restriction using(More)
The proinflammatory cytokines tumour necrosis factor-alpha (TNF-alpha) interleukin (IL)-1 beta, IL-6, and IL-8 were measured in plasma and urine samples from 19 children with verocytotoxin-producing Escherichia coli (VTEC) induced haemolytic uraemic syndrome (HUS) and 30 controls. TNF-alpha was detected in the plasma of two cases and one control; IL-6 in(More)
Schimke immuno-osseous dysplasia (SIOD, MIM 242900) is an autosomal-recessive pleiotropic disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Using genome-wide linkage mapping and a positional candidate approach, we determined that mutations in SMARCAL1 (SWI/SNF2-related, matrix-associated,(More)