The Sanger sequencing of patients with recessive polycystic kidney disease is challenging due to the length and heterogeneous mutational spectrum of the PKHD1 gene. Next generation sequencing (NGS) might thus be of special interest to search for PKHD1 mutations. The study involved a total of 22 patients with autosomal recessive polycystic kidney disease (ARPKD) and 8 parents of non-available ARPKD patients.
View Article and Find Full Text PDFThe health-related quality of life (HRQOL) of adolescents with end-stage renal disease (ESRD) is an important marker of disease burden. Our aims were to investigate HRQOL in a group of children and adolescents with ESRD and to compare them with the reference population norms. Ours was a cross-sectional study of 81 patients aged 10 years to 21 years with ESRD (68 with kidney transplants and 13 on dialysis) at five Spanish paediatric nephrology centres.
View Article and Find Full Text PDFJ Pediatr Urol
February 2007
Aim: To determine the role of tumor necrosis factor-alpha (TNF-alpha) gene polymorphism in promoting renal scarring among patients with vesicoureteric reflux (VUR). This genetic variant involves a guanosine to adenine transition at position -308, and this single-base polymorphism is associated with increased transcription of the TNF-alpha gene. Recent studies suggest that the TNF-alpha gene may be associated with predisposition to renal scarring.
View Article and Find Full Text PDFIntroduction: Parameters allowing regular evaluation of renal function in a paediatric intensive care unit (PICU) are not optimal. The aim of the present study was to analyse the utility of serum cystatin C and beta2-microglobulin (B2M) in detecting decreased glomerular filtration rate in critically ill children.
Methods: This was a prospective, observational study set in an eight-bed PICU.
Distal renal tubular acidosis (RTA) with nerve deafness is caused by mutations in the ATP6V1B1 gene causing defective function of the H+ -ATPase proton pump. We report five acidotic children (four males) from four unrelated families: blood pH 7.21-7.
View Article and Find Full Text PDFBackground: Hypertension is a risk factor for cardiovascular disease (CVD). Studies in adults have shown that high sensitivity C-reactive protein (CRP) levels are associated with increased risk of CVD and essential hypertension (EHT). Genetic background is widely accepted as a risk factor for CVD.
View Article and Find Full Text PDFThe purpose of this study was to investigate the relationship between salt taste perception and blood pressure (BP) in normotensive adolescents as modified by maternal fluid losses during the first trimester of gestation. Seventy-two healthy adolescents (42 boys) aged between 9.0-21.
View Article and Find Full Text PDFKidney disease has not been considered a frequent complication in Down syndrome (DS) patients; a variety of urological abnormalities and glomerulopathies have been reported in this population, and some DS patients develop chronic renal failure (CRF). The aim of this study was to improve the understanding of renal disease in patients with DS, focusing on the incidence and range of kidney and urological abnormalities in a population of DS patients. A cross-sectional study was carried out in DS patients referred from a pediatric genetics unit of a tertiary care center.
View Article and Find Full Text PDFBackground: Autosomal-recessive polycystic kidney disease (ARPKD) is an important neonatal nephropathy characterized by fusiform dilation of collecting ducts, congenital hepatic fibrosis, and in some cases Caroli's disease. The ARPKD gene, PKHD1, has recently been identified. Herein we describe an effective method for PKHD1 mutation screening and the results from analysis of a novel ARPKD cohort.
View Article and Find Full Text PDFTo investigate salt perception and discrimination and their possible association with blood pressure (BP), 72 healthy adolescents (42 boys) aged 9-21 years (mean 16.1 years) were studied. BP was measured with a standardized technique.
View Article and Find Full Text PDFThe purpose of the study was to determine whether DNA polymorphisms at the renin-angiotensin-aldosterone (RAS) genes were associated with evolution to renal scar formation and, consequently, with reflux nephropathy (RN) in patients with vesicoureteral reflux (VUR). Some authors have suggested that the DD genotype of the angiotensin-converting enzyme (ACE) gene would be an adverse renal prognosis factor. We recruited 246 patients (aged 3 months to 22 years) from four Spanish hospitals.
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