Urine Levels of Matrix Metalloproteinases and Tissue Inhibitor of Metalloproteinases in Children with Type 1 Diabetes Mellitus.

Objective: Histopathological changes in the kidney in type 1 diabetes mellitus (T1DM) begin before detection of microalbuminuria. Therefore, there is interest in finding a better biomarker for the early detection of diabetic kidney injury. The aim of this present study was to determine whether urinary indicators of fibrosis are detectable early in the development of T1DM in children and if they may predict progressive renal injury.

Glomerular and Tubular Functions in Children and Adults with Transfusion-Dependent Thalassemia.

This study aimed at assessing renal functions in patients with transfusion-dependent thalassemia (TDT). Fifty patients and 30 controls were enrolled in this prospective study. Serum levels of electrolytes and albumin were measured by a spectrophotometer.

Urine heat shock protein 70 levels as a marker of urinary tract infection in children.

Background: Heat shock proteins (HSPs) are a multi-family group of proteins which are upregulated by the cell in response to exposure to hazardous (stress) factors, including infectious agents, to prevent changes in protein structure. The aim of our study was to assess whether urine levels of the 70-kDa family of HSPs (HSP70s) increase in children with urinary tract infection (UTI) and to determine the optimal urine (u) HSP70 cut-off level to predict UTI in children.

Methods: Forty patients with symptomatic UTI (UTI group), 30 healthy children (control group), 21 asymptomatic patients with proven bacterial contamination in their urine culture (contamination group) and 30 patients with fever caused by other infections (non-UTI infection group) were enrolled in the study.

Higher urine heat shock protein 70/creatinine ratio in type 1 diabetes mellitus.

Insidious progressive renal damage caused by type 1 diabetes mellitus (T1DM) begins in childhood before it becomes manifest in adult ages. Heat shock proteins (HSPs) regulate the cell response to any hazardous factors to prevent cell structure. The aim of the study is to determine whether urine levels of HSPs increase in diabetic children with time and indicate a progressive renal injury in T1DM.

Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever.

Background: Familial Mediterranean fever (FMF) is one of the most frequent genetic diseases encountered in the Mediterranean region. We aimed to investigate the correlation between genetic mutations and the clinical findings in 562 patients with FMF.

Methods: In this retrospective cross-sectional study conducted with patients' files between 2006, and 2013, reverse hybridization assay for MEFV gene mutations was used and the 12 most frequent mutations were screened.

An easily missed diagnosis: 17-alpha-hydroxylase/17,20-lyase deficiency.

The CYP17A1 gene encodes the enzyme P450c17, which mediates both 17α-hydroxylase and 17,20-lyase activities and is essential for production of cortisol and sex steroids. Loss-of-function mutations of this gene cause 17α-hydroxylase/17,20-lyase deficiency, characterized by hypertension, hypokalemia and sexual infantilism. A 6-year-old phenotypically female patient presented with hypertension and hyperpigmentation.

Development of a medication adherence scale for familial Mediterranean fever (MASIF) in a cohort of Turkish children.

Objectives: To develop and assess the validity and reliability of an adherence scale concerning medical treatment in paediatric FMF patients.

Methods: The Medication Adherence Scale in FMF Patients (MASIF) is a 18-item questionnaire that evaluates adherence to medication in four domains. Validation of the instrument was accomplished in paediatric FMF patients (aged 2-18 years) under medication at least for 6 months.

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS.

Hereditary defects of coenzyme Q10 biosynthesis cause steroid-resistant nephrotic syndrome (SRNS) as part of multiorgan involvement but may also contribute to isolated SRNS. Here, we report 26 patients from 12 families with recessive mutations in ADCK4. Mutation detection rate was 1.

Pathogens causing urinary tract infections in infants: a European overview by the ESCAPE study group.

Unlabelled: Knowledge of the distribution spectrum of causative organisms and their resistance patterns has become a core requirement for the rational and effective management of urinary tract infections. In the context of a prospective trial on the use of antibiotic prophylaxis in infants with underling kidney malformations, we conducted an online survey among paediatric nephrologists on positive urine cultures (July 2010-June 2012) from both hospitalized and non-hospitalized infants under 24 months of age. We collected 4745 urine cultures (UCs) at 18 units in 10 European countries.

Clinical importance of renal calyceal microlithiasis in children.

Background: Renal calyceal microlithiasis refers to a hyperechogenic spot in renal calyces <3 mm in diameter detected on renal sonography. These spots possibly represent the first step in calculus formation. The aim of this study was to analyze the clinical presentation, predisposing factors, prognosis and clinical importance of these hyperechogenic spots in renal calyces, renal calyceal microlithiasis, during childhood.

Genetic screening in adolescents with steroid-resistant nephrotic syndrome.

Genetic screening paradigms for congenital and infantile nephrotic syndrome are well established; however, screening in adolescents has received only minor attention. To help rectify this, we analyzed an unselected adolescent cohort of the international PodoNet registry to develop a rational screening approach based on 227 patients with nonsyndromic steroid-resistant nephrotic syndrome aged 10-20 years. Of these, 21% had a positive family history.

Management of anemia in children receiving chronic peritoneal dialysis.

Little information exists regarding the efficacy, modifiers, and outcomes of anemia management in children with CKD or ESRD. We assessed practices, effectors, and outcomes of anemia management in 1394 pediatric patients undergoing peritoneal dialysis (PD) who were prospectively followed in 30 countries. We noted that 25% of patients had hemoglobin levels below target (<10 g/dl or <9.

Comparison of recombinant human erythropoietin and darbepoetin alpha in children.

Background: The aim was to compare the clinical efficacy of recombinant human erythropoietin (rHuEPO) and darbepoetin alpha (DA) in the treatment of anemia in children with chronic kidney disease (CKD).

Method: Thirty-four (13 female, 21 male) CKD patients were enrolled in the study. Mean age was 11.

Circulating suPAR in two cohorts of primary FSGS.

Overexpression of soluble urokinase receptor (suPAR) causes pathology in animal models similar to primary FSGS, and one recent study demonstrated elevated levels of serum suPAR in patients with the disease. Here, we analyzed circulating suPAR levels in two cohorts of children and adults with biopsy-proven primary FSGS: 70 patients from the North America-based FSGS clinical trial (CT) and 94 patients from PodoNet, the Europe-based consortium studying steroid-resistant nephrotic syndrome. Circulating suPAR levels were elevated in 84.

Matrix metalloproteinase 9 and tissue inhibitor of metalloproteinase 1 in vesicoureteral reflux.

The aim of this study was to investigate whether urine levels of matrix metalloproteinase 9 (uMMP9) and tissue inhibitor of metalloproteinase 1 (uTIMP1) are novel biomarkers of vesicoureteral reflux (VUR) and to determine the optimal cut-off levels of these enzymes to predict VUR in children. The study group consisted of 67 children with VUR and 20 healthy children. Urine MMP9 and TIMP1 levels were measured by an enzyme-linked immunosorbent assay.

Duration discrimination by musicians and nonmusicians.

This study investigated the effects of stimulus modality, standard duration, sex, and laterality in duration discrimination by musicians and nonmusicians. Seventeen musicians (M age = 24.1 yr.

MYO1E mutations and childhood familial focal segmental glomerulosclerosis.

Background: Focal segmental glomerulosclerosis is a kidney disease that is manifested as the nephrotic syndrome. It is often resistant to glucocorticoid therapy and progresses to end-stage renal disease in 50 to 70% of patients. Genetic studies have shown that familial focal segmental glomerulosclerosis is a disease of the podocytes, which are major components of the glomerular filtration barrier.

Ambulatory blood pressure monitoring and renal functions in term small-for-gestational age children.

The aim of this study was to investigate the relationship between birth weight and blood pressure (BP) by means of ambulatory BP monitoring (ABPM) and renal functions in non-obese children who were born small-for-gestational age (SGA) at term. The study group consisted of 39 (19 female, 20 male; mean age 8.8 ± 2.

Methylenetetrahydrofolate reductase C677T polymorphism in patients with Henoch-Schönlein purpura.

Aim: Associations between several vascular diseases such as Kawasaki disease, venous and arterial thromboembolism, cardiovascular disease, diabetic nephropathy, focal segmental glomerulosclerosis and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism have been reported. This is a clinical study designed to investigate the possible effects of MTHFR C677T polymorphism on the development of Henoch-Schönlein purpura (HSP).

Methods: Forty-one patients with HSP (25 male/16 female) with a mean age of 7.

Clinical course of primary focal segmental glomerulosclerosis (FSGS) in Turkish children: a report from the Turkish Pediatric Nephrology FSGS Study Group.

The clinical course of focal segmental glomerulosclerosis (FSGS) is heterogeneous in children. To evaluate the clinical course and the predictors of outcome in Turkish children with primary FSGS, a retrospective study was conducted by the Turkish Pediatric Nephrology Study Group in 14 pediatric nephrology centers. Two hundred twenty-two patients (92 boys, 130 girls, aged 1-16 years) with biopsy-proven primary FSGS were included.