Evaluation of corneal and lens densitometry with Pentacam HR in children with Nephrotic Syndrome: A controlled, prospective study.

Background: This study aimed to compare the corneal and lens densitometry values between children with Nephrotic Syndrome (NS) and healthy individuals.

Methods: This cross-sectional comparative study included 23 patients with NS and 26 healthy controls. Corneal topographic and corneal and lens densitometric values were measured using Pentacam HR.

Effect of enuresis on perceived parental acceptance-rejection in children.

Objective: Enuresis is a major problem affecting both the child and his family. This study aimed to investigate the effect of enuresis on mother acceptance-rejection perceived by children.

Material And Methods: Fourty-six children and their mothers with the diagnosis of primary enuresis were included in the study.

Glomerular involvement in children with H syndrome.

Background: H syndrome is a multisystem inflammatory disease caused by mutations in the SLC29A3 gene (OMIM #602782). The protein product, hENT3, is a nucleoside transporter essential for DNA salvage synthesis. Clinical manifestations are hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, short stature, skeletal deformities, and diabetes mellitus.

Characteristics of infant urolithiasis: A single center experience in western Turkey.

Introduction: Urolithiasis (UL) in infancy has different incidence, etiology, presentation and course compared to UL in childhood and in adults. We evaluated the clinical, radiological, metabolic factors and course of infant UL in western Turkey.

Methods: Medical records of the infants between 1 and 12 months of age with a diagnosis of UL were reviewed retrospectively for gender, gestational age, age at diagnosis, presenting symptoms, past medical history, parental consanguinity, family history of UL, urinary tract abnormalities, urinary tract infections, localization-size-number of stones, course of stones, treatment modality of UL (medical vs surgical) and follow up duration.

Prediction of Short- and Long-Term Outcomes in Childhood Nephrotic Syndrome.

Introduction: It is unknown whether steroid sensitivity and other putative risk factors collected at baseline can predict the disease course of idiopathic nephrotic syndrome in childhood. We determined whether demographic, clinical, and family reported factors at presentation can predict outcomes in idiopathic nephrotic syndrome.

Methods: An observational cohort of 631 children aged 1 to 18 years diagnosed with idiopathic nephrotic syndrome between 1993 and 2016 were followed up until clinic discharge, 18 years of age, end-stage kidney disease (ESKD), or the last clinic visit.

Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.

Background: Heterozygous PAX2 mutations cause renal coloboma syndrome (RCS) [OMIM no. 120330]. RCS is a renal syndromic disease encompassing retinal coloboma and sensorineural hearing loss.

A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I.

Four affected individuals of consanguineous kindred presented at infancy with an apparently autosomal recessive syndrome of polyuria and hypokalemic metabolic alkalosis, following maternal polyhydramnios and premature delivery, culminating in severe failure to thrive. Hypercalciuria, nephrocalcinosis, and hyperaldosteronism were further apparent as well as an unusual finding of intermittent hypernatremia. Additionally, all patients demonstrated variable micrognathia with upper respiratory airway abnormalities.

[SOLITARY KIDNEY - IS IT TOO LITTLE?].

Solitary functioning kidney (SFK) occurs with unilateral renal agenesis (URA) in 1/2000 live births - or after uninephrectomy for tumor, trauma, uncontrolled infections or hypertension and post-kidney donation. URA-associated states include urological, cardiac, gastrointestinal and skeletal anomalies or it might be a component of a genetic syndrome. In 10% of cases of URA another family member is affected.

Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis.

Objective: Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several body tissues due to a mutation in the CTNS gene, which encodes the cystinosin protein. The aim of this study was to sequence the coding exons of the CTNS gene in five different Jordanian families and one family from Sudan with nephropathic cystinosis.

Methods: Probands initially presented with Fanconi syndrome symptoms.

Vesicoureteric reflux deterioration in monozygotic twins.

Primary vesicoureteric reflux (VUR) is the most common inherited structural urinary tract disorder, conforming closely to autosomal dominant transmission. A pair of monozygotic siblings is described exhibiting a remarkably parallel clinical course. VUR grade II was diagnosed in girl A during urinary tract infection at the age of 2 yr; screening of her asymptomatic sister (girl B) revealed the same.

Elevated salt and nitrate levels in drinking water cause an increase of blood pressure in schoolchildren.

Aim: To assess the influence on blood pressure in schoolchildren, of elevated sodium (Na(+)) and nitrate (NO(-)(3)) levels in the drinking water.

Methods: The blood pressure was recorded in three groups of age- and weight-matched schoolchildren (fourth and fifth graders) ingesting differing Na(+) and NO(-)(3) concentrations with their drinking water. Group 1 (n = 452) imbibed high-Na(+), high-NO(-)(3) water (196 and 49 mg/l, respectively); group 2 (n = 418) consumed low-Na(+), high-NO(-)(3) water (25 and 49 mg/l, respectively) and group 3 (n = 86) drank low-Na(+), low-NO(-)(3) water (35 and 25 mg/l, respectively).

Oral vitamin intake in children receiving long-term dialysis.

Objective: To evaluate dietary and oral supplement vitamin intake in children submitted to dialysis (peritoneal dialysis and hemodialysis).

Design: Prospective clinical trial in a 12-month follow-up period.

Setting: Children with end-stage renal disease (ESRD) who attended the pediatric nephrology clinic of Universidade Federal de São Paulo-Escola Paulista de Medicina (UNIFESP-EPM), São Paulo, Brazil.