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Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic metabolic acidosis in childhood, hypokalaemia, decreased urinary calcium solubility, and impaired bone physiology and growth. Two types of rdRTA have been differentiated by the presence or absence of sensorineural hearing loss, but appear otherwise(More)
The purpose of this study is to evaluate the relationships between serum free fatty acids (FFA) and zinc, and attention deficit hyperactivity disorder (ADHD). Forty eight children with ADHD (33 boys, 15 girls) were included in the patient group and 45 healthy volunteer children (30 boys, 15 girls) constituted the control group. The mean serum FFA level in(More)
H+-ATPases are ubiquitous in nature; V-ATPases pump protons against an electrochemical gradient, whereas F-ATPases reverse the process, synthesizing ATP. We demonstrate here that mutations in ATP6B1, encoding the B-subunit of the apical proton pump mediating distal nephron acid secretion, cause distal renal tubular acidosis, a condition characterized by(More)
To evaluate the prognosis of breath holding spells (BHS) after iron treatment, 91 children (56 boys, 35 girls) aged between 6 months and 40 months (median, 17) were followed prospectively for a median of 45 months (range, 6-89). In 49 of the children, the frequency of BHS was less than 10 each month, in 22 it was 10-30 each month, and in 20 more than 30(More)
Between 1979 and 1985, six of 26 patients undergoing continuous ambulatory peritoneal dialysis developed fungal peritonitis. All had received antibacterial therapy with cefamandole and/or netilmicin prior to the diagnosis. The causal organisms were Candida albicans (three), Candida glabrata (one), Cryptococcus laurentii (one) and Saccharomyces cerevisiae(More)
Between 1985 and 1987 102 children, age 0-14 years, presented with a first acute symptomatic E. coli urinary tract infection. Investigations included early 99mtechnetium dimercaptosuccinic acid (DMSA) scan (which was performed at a median of 27 days), ultrasonography, micturating cysto-urethrography and indirect voiding radionuclide cystography using 99mTc(More)
Soluble interleukin-2 receptor (slL-2R) was measured in the plasma of 31 patients with idiopathic thrombocytopenic purpura (ITP) and 22 normal controls. When thrombocytopenia persisted longer than 6 months, the diagnosis of chronic ITP was made. Twenty patients had acute ITP, 11 patients had chronic ITP, and all patients received high-dose(More)
Sixteen children (11 male, 5 female) who developed renal venous thrombosis in the neonatal period or early infancy have been followed for periods varying from 29 months to 16 years (median 12 years) after initial diagnosis. Twelve patients presented with a hyperosmolar state, and in 4 the illness was preceded by severe birth asphyxia. The diagnosis was(More)