Adipokine, adropin and endothelin-1 levels in intrauterine growth restricted neonates and their mothers.

Intrauterine growth retardation/restriction (IUGR) is associated with fetal malnutrition. It has consequences for later life including increased incidence of obesity, diabetes mellitus, cardiovascular disease (CVD), and metabolic syndrome. Adipokines (adiponectin and leptin), adropin, and endothelin-1 are associated with obesity and metabolic syndrome regulation. Intrauterine changes in these mediators could affect programming of later adult obesity and metabolic syndrome. Our objectives were to compare the levels of these mediators in both cord and maternal blood between IUGR pregnancies and control, healthy pregnancies, and to study the correlation of adipokines with adropin and endothelin-1 in maternal and cord blood in IUGR pregnancies as well as in healthy control pregnancies. Maternal and cord blood samples were taken from 16 women with IUGR pregnancies and 16 women with healthy pregnancies. Serum levels of leptin, adiponectin, adropin, and endothelin-1 were measured by ELISA. Maternal blood adropin levels were significantly lower in the IUGR group than in the control group; the other mediators did not differ significantly. There was a positive correlation between maternal blood adropin and endothelin levels. (r=0.731, P=0.001) in the control but not the IUGR group. Cord blood adropin and adiponectin levels were significantly lower in the IUGR group compared with the control group, while leptin or endothelin-1 did not differ significantly. There was a negative correlation between adropin and leptin (r=-0.704, P=0.001) in the IUGR but not the control group cord blood. There were also positive correlations between endothelin and adropin for both groups (r=0.594, P=0.006; r=0.560, P=0.010, respectively); to the best of our knowledge, this is the first report of such a correlation. Differences in fetal expression of adropin and adiponectin in IUGR could influence programming of obesity, metabolic syndrome, diabetes, and CVD in later life.

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.

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: DNA samples previously supplied to define the mutation profile for analysis and which were used as controls were completely and correctly detected by this method. None of the 12 mutations was detected in our patients. The duration of analysis for one mutation, including hybridization, was only 30 min for 38 cases. CONCLUSION: Electronic microarray screening for NPHS2 mutations is not only rapid but also accurate. Previous identification of the mutation profile most often encountered in the investigated population is needed, however.

Recurrent hemolytic uremic syndrome associated with intestinal lymphangiectasia.

A 17-year-old boy was admitted to the hospital twice in a year for 2 episodes of hemolytic uremic syndrome (HUS). During these 2 HUS episodes he had diarrhea, decreased serum complement, decreased total protein and decreased serum albumin concentrations. We suggest that protein-losing enteropathy and hypocomplementemia due to intestinal lymphangiectasia is may be a rare cause of atypical HUS.

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. The patient was resistant to oral prednisolone; and the remission of both R-D disease and MCN was achieved with oral cyclophosphamide (2 mg/kg, 12 weeks). MCN, the most common cause of nephrotic syndrome in childhood, is generally accepted to emerge by way of cytokine derangement. Correlation between R-D disease activity and the development and remission of nephrotic syndrome in our case suggested that nephrotic syndrome had been induced through some R-D disease-related immune mechanisms.

Renin-angiotensin system gene polymorphisms: association with susceptibility to Henoch-Schonlein purpura and renal involvement.

The clinical course of Henoch-Schönlein Purpura (HSP) in children is variable, with some patients having a much more rapidly progressing course than others. We investigated whether polymorphisms of the renin-angiotensin system (RAS) genes are involved in HSP. Three RAS genotypes were examined in 114 children with HSP and in 164 healthy children: the angiotensin I converting enzyme (ACE) insertion/deletion polymorphism, the M235T mutation in the angiotensinogen gene (Agt), and the A1166C in the angiotensin II type I receptor (AT1R) gene. Significant differences were observed between HSP patients and control group in the frequency of ACE and Agt genotypes (p=0.004 and p=0.003, respectively). The TT genotype of Agt gene was associated with a 3.5-fold increased risk for Henoch-Schönlein nephritis (HSN) compared with the MM/MT genotype (odds ratio, 3.5; 95% confidence interval, 1.2-10.4). There was a trend to a higher prevalence of the TT genotype of the Agt gene among patients with nephrotic range proteinuria when compared to the patients with mild proteinuria, although the difference did not reach a statistical significance. The results of this study suggest that polymorphisms of ACE gene and Agt gene likely influence the risk of developing HSP. However, among the three genes of the RAS studies, only Agt gene was associated with the susceptibility to HSN. RAS gene polymorphisms studied are not associated with the presence of nephrotic range proteinuria. Additional studies are warranted to verify the correlation between RAS gene polymorphisms and susceptibility to HSP.

Long-term results of children diagnosed with idiopathic nephrotic syndrome; single center experience.

AIM: The aim of this study was to determine the long-term results of children followed up with a diagnosis of nephrotic syndrome in a single center. MATERIALS AND METHOD: The medical data of 33 patients aged between 6 months and 10 years who were diagnosed with idiopathic nephrotic syndrome in our center between January 2000 and December 2012 and followed up for a period of 2-12 years were reviewed (Gulhane Military Medical Academy Ethics committee, 07.11.2012/10). RESULTS: The mean age of disease onset was 3.2±2.04 years (range: 0.5-10 years) and the mean follow-up period was 6±3.4 years (range: 2-12 years). Thirteen (39.4%) of the study group (or the patients) were female and 20 (60.6%) were male. Twenty seven (1.8%) of the patients were sensitive to steroid and 6 (18.1%) were resistant to steroid. Four (12.1%) of the steroid-resistant patients had steroid-dependent nephrotic syndrome, 5 (15.2%) had frequently relapsing nephrotic syndrome and 18 (54.5%) had rarely relapsing nephrotic syndrome. Histopathological diagnoses of six patients who underwent biopsy because of resistance to steroid were as follows: focal segmental glomerulosclerosis (n=3), C1q nephropathy (n=1), diffuse mesangial proliferation (n=1) and membraneous nephropathy (n=1). Fifteen (45.5%) patients entered into full remission and 2 (6%) patients developed chronic renal failure. Treatment complications including decreased bone mineral density in three patients (9%), short stature in 2 patients (6%) and cataract in 2 patients (6%) developed. CONCLUSIONS: Children with nephrotic syndrome carry a risk in terms of short stature, osteoporosis, cataract and renal failure in the long-term follow-up. It was observed that our rates of response to steroid were similar to the literature and the most common histopathological diagnosis was focal segmental glomerulosclerosis in our patients who underwent biopsy because of resistance to steroid. It was thought that multi-center studies should be conducted to demonstrate regional or national differences related with long-term results of childhood nephrotic syndrome.

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). RESULTS: Significant differences in PCT level were noted between patients of Groups I, II and IV and the other two groups. A 93% reduction in proteinuria was achieved for Group II patients following an antibiotic regimen. The difference in PCT level between Groups I and II was significant. PCT showed a higher diagnostic predictability than C-reactive protein (CRP) in Group I patients, and was as good as CRP for those with infection and infection-related proteinuria. Sensitivity × specificity in relapse and infection-related states for PCT were 0.472 and 0.628, respectively, and those for CRP were 0.183 and 0.762, respectively. CONCLUSION: A combined approach with CRP and PCT readings may be beneficial in discriminating proteinuria attacks co-existent with intercurrent infection from sole relapses of nephrotic syndrome. PCT may be a part of the wide spectrum of immune abnormalities seen in patients with MCN.

Plasma levels of trace elements have an implication on interferon treatment of children with chronic hepatitis B infection.

This study evaluated the plasma levels of trace elements in children with chronic hepatitis B virus (HBV) infection and assessed whether they can be a factor that affects the response to interferon alpha (IFN-alpha) treatment. The study included 35 cases (ten girls, 25 boys) aged 3-13 years with chronic HBV infection and the control group. Plasma levels of copper (Cu), manganese (Mn), molybdenum (Mo), selenium (Se), and zinc (Zn) were measured before IFN-alpha treatment and biochemical, virological, and histopathologic response to treatment were assessed. Children were followed for at least 15 months. Although plasma Cu levels showed no difference between the groups, Mn, Mo, Se, and Zn levels were significantly lower in the study group before treatment. Fourteen cases (40%) showed biochemical response; 17 (48.6%) showed virological response; 16 (47.6%) showed histopathologic response, and ten (28.6%) showed response according to all three parameters. Plasma Cu and Mn levels of patients with triple response showed no difference; but Mo, Se, and Zn levels were significantly lower (p < 0.001) in the study group. No difference was observed between responders and nonresponders (p > 0.05). Plasma levels of Mn, Mo, Se, and Zn are lower in children with chronic HBV infection compared to healthy children. The pretreatment levels of these elements did not show difference between responders and nonresponders to IFN-alpha.

Serum aluminium levels in glue-sniffer adolescent and in glue containers.

Glue sniffing is a serious medical problem among teenagers. Various chemical substances such as toluene and benzene containing glues have been reported to be toxic. It has been demonstrated that some toxic metals such as lead are elevated in the blood of solvent-addicted patients. Whereas aluminium is an element that has toxic effects on neurological, hematopoetic system and bone metabolism. We want to determine the serum levels of aluminium in glue-sniffer adolescents in comparison with healthy subjects. In addition, we compared aluminium levels of different commercial glue preparations (i.e. metal and plastic containers), to determine which type of container is better for less aluminium toxicity. We measured serum levels of aluminium in 37 glue-sniffer and 37 healthy subjects using atomic absorption spectrophotometry. The average duration of glue-sniffer was 3.8 +/- 0.8 years. We also measured aluminium levels of 10 commercial glue preparations that seven of them with metal and three with plastic containers. We found that serum levels of aluminium were 63.29 +/- 13.20 ng/ml and 36.7 +/- 8.60 ng/ml in glue-sniffer and in control subjects, respectively (P < 0.001). The average aluminium level in the glues was 8.6 +/- 3.24 ng/g in the preparations with metal containers, whereas 3.03 +/- 0.76 ng/g with plastic containers (P < 0.001). Therefore, to decrease the incidence of aluminium toxicity in glue-sniffers, it may be a good step to market of glue preparations in plastic instead of metal containers.

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. Voiding cystourethrography was performed 6 months after completion of the biofeedback program to determine the reflux status. The treatment results were also documented as subjective and objective improvements. RESULTS: The reflux in 98 units (20 bilateral) was grade 1 in 26, grade 2 in 32, grade 3 in 28, and grade 4 in 12. At 6 months of follow-up, VUR had resolved on voiding cystourethrography in 62 units (63%), the grade had improved in 28 units (29%), and the reflux had remained unchanged in 8 units (8%). Among the older children treated with biofeedback, we also observed improvements in nocturnal enuresis (82%), daytime wetting (70%), constipation (78%), frequency (76%), infrequency (64%), urgency (71%), staccato voiding (81%), flattened voiding (81%), bladder overactivity (82%), detrusor sphincter dyssynergia (77%), spinning top urethra (67%), and urinary tract infection (80%). CONCLUSIONS: Biofeedback therapy is applicable in older children with dysfunctional voiding and VUR and yields greater resolution rates than the historical resolution rates.

Brucellae osteoarthritis on the head of the femur.

We present an 11-year-old boy with Brucellae osteoarthritis on caput femoris. We therefore emphasize the importance of Brucellae osteoarthritis and in particular bone scintigraphy in the diagnosis of childhood monoarthritis.

Henoch-Schönlein purpura in a child following varicella.

Henoch-Schönlein purpura (HSP) is one of the most common vasculitis of childhood. It is characterized by nonthrombocytopenic palpable purpura, arthritis, renal and gastrointestinal system (GIS) involvement. HSP is usually triggered by an antigenic stimulus including infectious agents, drugs, cold, insect bite or food. HSP is rarely triggered by Varicella zoster infection. We herein presented a case with HSP following varicella.

Plasma and urinary adrenomedullin levels in children with acute pyelonephritis.

AIM: Adrenomedullin (AM), a novel peptide recently isolated from pheochromocytoma, eliciting vasorelaxing activity, is the strongest among all known peptides. AM has been detected in the adrenal medulla, cardiac tissue, lung and kidney. Immunohistochemical studies have demonstrated the localization of AM in glomeruli, tubules and collecting cells of the kidney. Clinically, plasma and urinary AM levels are altered in patients with different renal disease. The present study aims to determine plasma and urinary AM levels in children with acute pyelonephritis (APN) and compare the results with a control group. MATERIALS AND METHODS: The study group was comprised of 19 patients with APN aged 11.6 +/- 3.7 months (range, 6-18 months) and the control group consisted of 16 cases aged 11.5 +/- 3.2 months (range, 7-16 months). Acute pyelonephritis was diagnosed by clinical, laboratory and imaging methods. Plasma and urinary AM levels were measured by high performance liquid chromotography (HPLC). RESULTS: The plasma AM levels were lower in APN patients (33.40 +/- 2.27 pmol/mL) than in the control group (43.76 +/- 4.27 pmol/mL) (P < 0.001), whereas the urinary AM levels were higher in APN patients (248.58 +/- 140.63 pmol/mg urinary creatinine) than in the control group (49.42 +/- 45.23 pmol/mg) (P < 0.001). Coefficients of correlation between urinary AM levels and C-reactive protein and white blood cells were statistically significant (r = 0.472, P = 0.041; r = 0.555, P = 0.014, respectively). CONCLUSION: Adrenomedullin, a smooth muscle relaxant peptide that is synthesized in urinary tract tissue might have a role in acute pyelonephritis. However, the importance of AM in the pathogenesis of acute pyelonephritis remains to be determined by further detailed studies.

Plasma and urinary adrenomedullin levels in children with renal parenchymal scar and vesicoureteral reflux.

Adrenomedullin (AM) is a strong vasodilator peptide with proven antimitogenic and antiproliferative effects in renal mesangial cells, as well as diuretic and natriuretic actions. Its gene expression is stimulated by endotoxins (lipopolysacharides) and cytokines. Consequently, its plasma and urinary levels are known to deviate from normal levels in many renal diseases. The purpose of this study is to determine plasma and urinary AM levels in children with renal parenchymal scar (RPS) and vesicoureteral reflux (VUR). The study was carried out on 74 children with recurrent urinary tract infections, arranged in groups: 25 patients with RPS with VUR (group I), 16 patients with RPS without VUR (group II), 12 patients with VUR without RPS (group III) and 21 healthy children as the control group. Plasma and urinary AM concentrations were both determined by high performance liquid chromotography (HPLC). Plasma AM was measured as picomoles per milliliter (pM/ml) and urinary AM as pM/mg urinary creatinine. In addition, serum creatinine, creatinine clearance and fractional sodium excretion (FE(Na)) were measured. All cases with RPS and VUR had normal blood pressure levels. The plasma AM levels were higher, although not significantly, in the control group (56.2+/-14.0 pM/ml) than in group I (50.6+/-4.2 pM/ml), group II (49.6+/-3.7 pM/ml) and group III (50.6+/-3.6 pM/ml) ( P =0.162). The urinary AM levels were higher in the control group (80.1+/-33.9 pM/mg) than in the three study groups (52+/-7.6 pM/mg, 58.6+/-7.5 pM/mg and 44.2+/-6.4 pM/mg; P =0.003, P =0.002 and P =0.002, respectively). There were no differences among the 4 groups (group I, group II, group III and the control group) in terms of FE(Na) and creatinine clearance ( P >0.05 and P >0.05, respectively). The finding that diminished urinary AM levels in patients with RPS and VUR implies that AM can be a prognostic factor in the long-term follow-up of cases with these diseases.

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. Our aim was to investigate the renal tubular functions in children with beta-thalassemia minor and to determine its possible harmful effects. METHODS: The study was conducted on 32 children (14 female and 18 male) at the age of 5.8 +/- 3.1 years (range 2-14 years) with beta-thalassemia minor. The patients were classified as anaemic (haemoglobin (Hb) 11 g/dL) (Group 2, n = 18). A control group was formed with 18 healthy children whose ages and sexes match those in other groups (Group 3, n = 18). Fractional excretion of sodium (FE(Na), %), fractional excretion of magnesium (FE(Mg), %), fractional excretion of uric acid (FE(UA), %) and tubular phosphorus reabsorption (TPR,%) were calculated with standard formulas. Urinary calcium excretion (mg/kg per 24 h), zinc (Zn) (microg/dL), glucosuria (mg/dL), beta-2 microglobulin (mg/dL) and N-acetyl-beta-D-glycosaminidase (NAG, U/mmol creatinine) levels were measured through biochemical methods. RESULTS: There was no statistically significant difference among the three groups in terms of the results of FE(Na) (%), FE(Mg) (%), FE(UA) (%), TPR (%), calciuria (mg/kg per 24 h), NAG, urine Zn, proteinuria, glucosuria or urine beta- 2 microglobulin levels (P > 0.05). CONCLUSION: On the contrary of children with beta-thalassemia major, renal tubular dysfunction has not been determined in children with beta-thalassemia minor in the present study.

Measles: a rare communicable disease in a child with renal transplantation.

Measles is a rare communicable disease which may be fatal in renal transplant patients. Herein we present a patient with renal transplantation who had measles and who subsequently developed subacute measles encephalitis 4 months later. We recommend all children with chronic renal failure be vaccinated against measles before transplantation.

Cyclosporine-associated facial paralysis in a child with renal transplant.

Cyclosporine (CsA)-associated neurotoxicity has been reported in recipients of solid organ and bone marrow transplants. These neurological side effects are usually mild and resolve with temporary reduction or withdrawal of CsA. We report a 16-year-old renal transplant recipient who developed tremor, tinnitus, and peripheral facial paralysis during oral CsA treatment. Her serum magnesium level was below the normal range and her peripheral facial paralysis did not improve with the cessation of the drug.