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The role of SGLT2 (the gene for a renal sodium-dependent glucose transporter) in renal glucosuria was evaluated. Therefore, its genomic sequence and its intron-exon organization were determined, and 23 families with index cases were analyzed for mutations. In 21 families, 21 different SGLT2 mutations were detected. Most of them were private; only a splice(More)
Spontaneous baroreflex receptor sensitivity (BRS) was calculated in 22 healthy normotensive children and young adults (age 14 +/- 5 years) using the sequence technique (time domain) and the alpha-coefficient or the gain of the transfer function between coherent oscillations (frequency domain). BRS estimated by the sequence technique (median: 16.7 ms/mm Hg)(More)
Currently there are no blood pressure (BP) nomograms based on local data available in Iran. In order to obtain data on BP distribution in Iranian school children, 8848 children aged 7-12 years were studied in Tehran. BP was found to increase with age. Both systolic and diastolic BP showed a positive correlation with height and weight in both sexes. The(More)
OBJECTIVE Insertion of percutaneous endoscopic gastrostomies (PEG) in patients on chronic peritoneal dialysis (PD) has been reported to be contraindicated due to an increased risk of morbidity and mortality. However, no systematic survey on this topic has yet been published. DESIGN Retrospective multicenter study. SETTING 23 pediatric dialysis units(More)
Dent's disease is an X-linked renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and renal failure. The disease is caused by mutations in a renal chloride channel gene, CLCN5, which encodes a 746 amino acid protein (CLC-5), with 12 to 13 transmembrane domains. In this study, an(More)
24-hour blood pressure monitoring is a valuable method for the diagnosis of arterial hypertension as well as for assessment of the diurnal rhythm of the arterial blood pressure (BP). The nocturnal decrease of blood pressure ("dipping") may be attenuated or abolished in children with advanced renal failure and glomerular diseases. Arterial hypertension is a(More)
Ciliopathies are genetically heterogeneous disorders characterized by variable expressivity and overlaps between different disease entities. This is exemplified by the short rib-polydactyly syndromes, Jeune, Sensenbrenner, and Mainzer-Saldino chondrodysplasia syndromes. These three syndromes are frequently caused by mutations in intraflagellar transport(More)
BACKGROUND Despite early operation, persistent and late systolic hypertension are common among children and adolescents after surgical repair of aortic coarctation and can contribute to early cardiovascular morbidity. METHODS Ambulatory blood pressure monitoring was performed for 78 patients (aged 3.6-22.8 years, 41 male) after successful surgical repair(More)
Because raised plasma concentrations of atrial natriuretic peptide indicate volume expansion, we studied the effect of red cell transfusion on plasma atrial natriuretic peptide concentration, packed cell volume, and intravascular volume in eight preterm infants. Red cell transfusion increased red cell mass, packed cell volume and erythrocyte count, but(More)