Purpose: Intestinal malabsorption can cause urinary stone disease via enteric hyperoxaluria. It has been shown that celiac disease, a common malabsorption disorder, is associated with an increased risk of calcium oxalate kidney stones in adults. Since no published data are available in the pediatric population, we analyzed urinary excretion of electrolytes in children with celiac disease to assess the risk of nephrolithiasis.
View Article and Find Full Text PDFKearns-Sayre syndrome (KSS) is a mitochondrial disease caused by large deletions in mitochondrial DNA (mtDNA). In most patients the disease is characterized by mtDNA heteroplasmy, where a mixture of wild-type and mutated mtDNA co-exist within cells in variable proportion, modulating the severity of the phenotype in different tissues. We report on the case of a 14-year-old child with classical symptoms of KSS and a renal phenotype characterized by hypokalaemic alkalosis, hypomagnesaemia, hyperreninaemia, hyperaldosteronism and nephrocalcinosis, resembling Bartter syndrome.
View Article and Find Full Text PDFObjective: To compare the diagnostic accuracy of cystatin C with that of creatinine in discriminating renal function in fetuses without ultrasononographic evidence of renal malformations from those with obstructive uropathies.
Design: Prospective, observational cohort study.
Setting: Prenatal morphologic and functional evaluation of fetal obstructive uropathies throughout pregnancy.
Objective: To determine the reference, bivariate, tolerance intervals of the whole-body impedance vector for healthy white neonates, we performed an observational, cross-sectional study in two university hospitals.
Methods: The impedance vector (standard, tetrapolar analysis at 50-kHz frequency) was measured in 163 consecutive subjects (87 boys and 76 girls) with postnatal ages of 1 to 7 d. Bivariate vector analysis was conducted with the resistance-reactance (RXc) graph method.