A novel mutation of Dent's disease in an 11-year-old male with nephrolithiasis and nephrocalcinosis.

Dent's disease is a rare X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrolcalcinosis or nephrolithiasis, proximal tubular dysfunction and renal failure in adulthood. Females are carriers and usually mildly affected. Progression to endstage renal failure are at the 3rd-5th decades of life in 30-80% of affected males.

Epicardial Adipose Tissue Thickness and Carotid Intima-Media Thickness in Hemodialysis Patients.

Background: It is well-known that cardiovascular risk and all-cause mortality is increased in hemodialysis patients. Epicardial fat thickness (EFT), which reflects visceral adiposity, has been suggested as a new cardiometabolic risk factor. The purpose of this study was to investigate EFT in hemodialysis patients.

Procalcitonin and minimal-change nephropathy: a pilot study.

Introduction: This study assessed the role of procalcitonin (PCT) in the differentiation of minimal-change nephropathy (MCN) relapses from infections co-existent with proteinuria flares in children.

Methods: Data on the PCT levels of patients with MCN who were on follow-up were retrospectively gathered at relapse (Group I), during proteinuria attacks co-existent with intercurrent infection (Group II) and at remission (Group III). The results of these three groups were then prospectively compared with nephrologically healthy patients who had infections that were similar to those in Group II (Group IV), and controls (Group V).

A different interaction between parathyroid hormone, calcitriol and serum aluminum in chronic kidney disease; a pilot study.

Background/aims: Aluminum (Al) is an ingredient of a variety of foodstuffs and medications as well as of domestic water supplies. The patients with chronic kidney disease (CKD) are more susceptible to bone toxicity of Al. The aim of the study was to investigate the interactions between serum Al, parathyroid hormone (PTH) and active vitamin-D in CKD.

Nephrogenic diabetes insipidus due to a novel AVPR2 mutation.

Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disease characterized by renal tubular unresponsiveness to the antidiuretic effect of arginine-vasopressin due to the mutations of two molecules, the vasopressin V2 receptor (AVPR2) and the aquasporin-2 water channel. We report a novel AVPR2 mutation in a Turkish 18 month-old boy with skeletal anomalies.

Nutcracker syndrome in a child with familial Mediterranean fever (FMF) disease: renal ultrastructural features.

Renal nutcracker syndrome is an uncommon clinical condition caused by compression of the left renal vein. It is usually accompanied by hematuria and/or orthostatic proteinuria. To date, the pathogenic mechanism of proteinuria and its ultrastructural features have not been clearly identified.

Pupillometric assessment of autonomic nervous system in children with functional enuresis.

Functional enuresis is defined as repeated voiding of urine into bed or clothes in children after 5 years of age following the exclusion of major somatic diseases. Autonomic nervous system dysregulation has been proposed as a pathophysiologic mechanism in the etiopathogenesis. The objective of this study was to evaluate autonomic nervous system functions with pupil diameter measurement in enuretic children.

Electronic microarray screening of podocin mutations: a single-center study.

Background: Because of resistance to immunosuppressants in nephrotic syndrome and reduction of proteinuria relapses following renal transplantation, it seems that new horizons have arisen from mutational screening of the podocin gene. The aim of this study was to assess electronic microarray screening of the podocin mutation.

Methods: Twelve previously identified podocin mutations were screened by the electronic microarray method in known DNA samples and in patients (aged 5 months-18 years, n = 38) with steroid-resistant primary nephrotic syndrome, isolated proteinuria, end-stage renal disease secondary to idiopathic nephrotic syndrome, and proteinuria relapses following renal transplantation.

Results of biofeedback treatment on reflux resolution rates in children with dysfunctional voiding and vesicoureteral reflux.

Objectives: It is well known that a relationship exists between vesicoureteral reflux (VUR) and dysfunctional voiding, and the spontaneous resolution rate in older children is lower than the rate in younger children. In this study, we analyzed our experience with biofeedback treatment in older children with confirmed voiding dysfunction and VUR and investigated the effect of this treatment on the reflux resolution rates in these children.

Methods: A total of 78 children, 5 to 14 years old (mean age 9), with voiding dysfunction and VUR detected by voiding cystourethrography were treated with biofeedback therapy.

The effect of ABO-Rh blood group determinants on urinary tract infections.

Background: Blood group antigens are a group of carbohydrate determinants found on erythrocytes, phagocytes, lymphocytes and certain epithelial tissues including urothelium. There are several publications that defines enhanced bacterial adhesions due to genetic markers such as blood group types.

Methods: The ABO-Rh blood group distribution of patients with UTI and Escherichia coli(+) urine culture were compared with ABO-Rh blood group distribution of our country.

Schimke immunoosseous dysplasia: suggestions of genetic diversity.

Schimke immunoosseous dysplasia (SIOD), which is characterized by prominent spondyloepiphyseal dysplasia, T-cell deficiency, and focal segmental glomerulosclerosis, is a panethnic autosomal recessive multisystem disorder with variable expressivity. Biallelic mutations in switch/sucrose nonfermenting (swi/snf) related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD. However, among 72 patients from different families, we identified only 38 patients with biallelic mutations in the coding exons and splice junctions of the SMARCAL1 gene.

Minimal change nephropathy in a 7-year-old boy with Rosai-Dorfman disease.

Rosai-Dorfman (R-D) disease is a benign lympho-histiocytosis of the lymphoid system. Immune derangement due to cytokine over-expression (tumor necrosis factor (TNF), interleukin (IL)-1b and IL-6) has been considered the cause of R-D disease. We present a 7-year-old boy with R-D disease who developed minimal change nephropathy (MCN) during the progression of R-D disease.

Renal tubular function in children with beta-thalassemia minor.

Background: beta-thalassemia minor is a common heterozygous haemoglobinopathy that is characterized by both microcytosis and hypochromia. It requires no treatment. It has been postulated that low-grade haemolysis, tubular iron deposition and toxins derived from erythrocytes might cause renal tubular damage in adult patients with beta-thalassemia minor.