Two non-familial cases of Galloway-Mowat syndrome carrying the homozygous mutations of WDR73 and TP53RK / Dois casos não familiares de síndrome de Galloway-Mowat portadores das mutações homozigóticas de WDR73 e TP53RK

Galloway­Mowat syndrome (GAMOS) is a rare hereditary disease manifested as a combination of nephrotic syndrome and central nervous system impairment. To date, many GAMOS cases attributed to various gene mutations have been reported such as WHAMM, NUP107, WDR73, OSGEP, and TP53RK. We detected two novel homozygous mutations of WDR73 ''NM_032856:c.G287A:p.R96K'' and TP53RK ''NM_033550:c.A193O:p.K65Q'' in two female kids of the consanguineous parents from different families using whole exome sequencing. Both patients almost manifested similar neurodegenerative phenotypes, including developmental delay, microcephaly, hypotonia, and brain atrophy on magnetic resonance imaging during infancy. WDR73-positive GAMOS case manifested a lateonset minimal nephrotic syndrome at the age 4 years while TP53RK-positive case presented nephrotic syndrome at the age 1 which progressed to steroid-resistant nephrotic syndrome due to lack of remission after 4-6 weeks of initial treatment with prednisone. Despite the brain abnormalities and the onset time difference of renal abnormalities, both patients are still alive. Given the heterogeneity of the renal phenotype among GAMOS types, accurate recognition of expanding spectrum of phenotype findings and regular renal function screening are necessary for an early diagnosis and timely treatment

A síndrome de Galloway-Mowat (GAMOS) é uma doença hereditária rara que se manifesta como uma combinação de síndrome nefrótica e comprometimento do sistema nervoso central. Até o momento, foram relatados muitos casos de GAMOS atribuídos a várias mutações genéticas, como WHAMM, NUP107, WDR73, OSGEP e TP53RK. Detectamos duas novas mutações homozigóticas de WDR73 ''NM_032856:c.G287A:p.R96K'' e TP53RK ''NM_033550:c.A193O:p.K65Q'' em duas crianças do sexo feminino, de pais consanguíneos de diferentes famílias usando o exoma completo de sequenciamento. Ambos os pacientes manifestaram fenótipos neurodegenerativos semelhantes, incluindo atraso no desenvolvimento, microcefalia, hipotonia e atrofia cerebral por ressonância magnética durante a infância. O caso GAMOS positivo para WDR73 manifestou síndrome nefrótica mínima de início tardio aos quatro anos de idade, enquanto o caso positivo para TP53RK apresentou síndrome nefrótica com um ano de idade, que progrediu para síndrome nefrótica resistente a esteroides devido à falta de remissão após quatro a seis semanas de tratamento inicial com prednisona. Apesar das anormalidades cerebrais e da diferença de tempo de início das anormalidades renais, ambos os pacientes ainda estão vivos. Dada a heterogeneidade do fenótipo renal entre os tipos de GAMOS, o reconhecimento preciso do espectro em expansão dos achados fenótipos e a triagem regular da função renal são necessários para um diagnóstico precoce e tratamento oportuno

Utility of Urine Interleukines in Children with Vesicoureteral Reflux and Renal Parenchymal Damage.

PURPOSE: Vesicoureteral reflux (VUR) is the most common risk factor of urinary tract infection in children. Currently, diagnosis of VUR depends on invasive imaging studies, with a high radiologic burden. Therefore, different biomarkers have been introduced for the evaluation of these patients. The objective of this study was to identify alteration of urinary interleukins (ILs) excretion in children with primary VUR and renal parenchymal damage, for further clinical application. MATERIALS AND METHODS: Urinary concentrations of IL-1α, IL-1ß, IL-6, and IL-8 were evaluated in 34 children with VUR (cases) and 36 without VUR (control), during 2018-2019. Urinary concentrations of IL-1, IL-1, IL-6 and IL-8 were measured, using polyclonal antibody ELISA kit, and standardized to urine creatinine (Cr). Patients with infectious or inflammatory disorders, urolithiasis, immune deficiency, acute or chronic kidney disease, and secondary VUR were excluded from the study. RESULTS: Mean age of cases (36.00 ± 27.66) had no significant difference with the control (32.86±29.31) group (p=0.44). The majority of patients had moderate VUR (58.8%), followed by severe (35.3%) and mild (5.9%) grades. Urinary concentration of all ILs/Cr were significantly higher in patients with VUR, compared with those without VUR. There was no significant correlation between urine ILs/Cr with age, gender, serum electrolytes, urine specific gravity, renal ultrasound, laterality or severity of VUR, and DMSA renal scan. All urine ILs/Cr had acceptable sensitivity and accuracy for workup of children with primary VUR. CONCLUSION: Urine IL-1α, IL-1ß, IL-6 and IL-8/Cr were sensitive and accurate additionary screening biomarkers in children with primary VUR.

Changes in body mass index after pediatric renal transplantation.

Significant weight gain following renal transplantation is common in adult and pediatric recipients and mostly depends on receiving higher doses of steroids, changes in mood and feelings, as well as their level of physical activities. This study was performed to evaluate body weight and body mass index (BMI) before and after kidney transplantation in children and adolescents. In this cross-sectional study, 71 pediatric renal transplant recipients (42 boys and 29 girls) were included. World Health Organization criteria were used for comparing Z-score BMI for age in our cases. Overweight was defined as Z-score BMI >+1 SD (standard deviation) and obesity as >+2 SD. At the time of transplantation, the mean age was 10.8 ± 3 years (5-16 years) and based on BMIZ-score, the patients were found to be thin (BMIZs <-2 SD) in 16.9%, normal (BMIZs = -2 to +1 SD) in 67.6%, overweight (>+1 SD to +2 SD) in 9.9%, and obese (BMIZs >+2 SD) in 5.6%.The mean follow-up duration after transplantation was 3.57 ± 1.68 years (1-7 years) and at the time of reevaluation after transplant, their mean age was 14.4 years (6-18 years). The mean BMI was 22 ± 5.3 kg/m2, and for BMI grouping, the patients were thin in 7%, normal in 54.9%, overweight in 21.1%, and obese in 17%. Pretransplant thinness (BMIZs <-2 SD) was found in 12 patients (16.9%), equally in boys and girls, and in most of them (83.3%), BMIZs changed to normal or even >+1 SD after transplant. Chronic continuous decrease of glomerular filtration rate (CCD/GFR) was found in 27 cases (38%); 74.1% were male (P = 0.045), hypertriglyceridemia was found in 74.1% (P = 0.023%), hypercholesterolemia in 63% (P = 0.032),and obesity in 18.5% (p = 0.5). The incidence of obesity has tripled after kidney transplantation. It was not a risk factor for graft or patient survival in our experience, whereas pretransplant obesity had some effects on long-term graft outcome.

Effect of prednisolone on linear growth in children with nephrotic syndrome / Efeito da prednisolona sobre o crescimento linear em crianças com síndromenefrótica

Abstract Objective This study aims at determining the relationship between prednisolone cumulative dose and linear growth in pre-pubertal children with idiopathic nephrotic syndrome. Method This cross-sectional study was conducted on all children with idiopathic nephrotic syndrome registered to the pediatric nephrology department at the main referral children's hospital in Southwestern Iran. Inclusion criteria included age (males <12 years; females <10 years), >6 months of use, and the minimum prednisolone cumulative dose of 152 mg/kg. The exclusion criteria were individuals who had entered puberty or had other diseases affecting linear growth. Based on the prednisolone cumulative dose of ≥550 mg/kg (four or more relapses), the children were divided into two groups. All data regarding age, height, and weight at disease onset and the last visit, bone age, and the parents' height were collected. Secondary variables including mid-parental target height and predicted adult height were also calculated. Height data were compared between the different rates of relapse. Results A total of 97 children (68% male) were enrolled. Their post-treatment mean height Z-score was less than that obtained before treatment (−0.584 vs. −0.158; p = 0.001). Subjects with higher prednisolone cumulative doses were found to have more reduction in height Z-score (p = 0.001). Post-treatment height prediction also showed less growth potential compared to pre-treatment target height (p = 0.006). Thirty-three children (34.4%) had four or more relapses, among whom more mean-height Z-score decreases were found compared to those with less-frequent relapses (−0.84 vs. −0.28; p = 0.04). Conclusion This study showed the negative effect of cumulative dosages of prednisolone on linear growth, which was greater in children with four or more relapses.

Resumo Objetivo Determinar a relação entre a dose cumulativa de prednisolona e o crescimento linear em crianças pré-púberes com síndrome nefrótica idiopática. Método Estudo transversal conduzido em todas as crianças com síndrome nefrótica idiopática registradas no departamento de nefrologia pediátrica no principal hospital infantil para encaminhamento no sudoeste do Irã. Os critérios de inclusão incluíram idade (meninos < 12 anos; meninas < 10 anos), > 6 meses e a dose cumulativa de prednisolona mínima de 152 mg/kg. Os critérios de exclusão foram indivíduos que entraram na puberdade ou tinham outras doenças que afetam o crescimento linear. Com base na dose cumulativa de prednisolona de ≥ 550 mg/kg (≥ 4 recidivas), as crianças foram divididas em dois grupos. Foram coletados todos os dados relacionados a idade, estatura e peso no início da doença e na última visita, idade óssea e estatura dos pais. Também foram calculadas as variáveis secundárias, inclusive estatura-alvo e estatura adulta prevista. Os dados de estatura foram comparados entre as diferentes taxas de recidivas. Resultados Foram inscritas 97 crianças (68% do sexo masculino). Seu escore z de estatura média pós-tratamento foi inferior ao obtido antes do tratamento (−0,584 em comparação com −0,158; p = 0,001). Os indivíduos com maiores doses cumulativas de prednisolona mostraram maior redução no escore z para estatura (p = 0,001). A estatura pós-tratamento também foi preditiva de menor potencial de crescimento em comparação com a estatura-alvo pré-tratamento (p = 0,006); 33 crianças (34,4%) apresentaram ≥ 4 recidivas, entre as quais foram encontradas mais reduções médias no escore z para estatura em comparação com as recidivas menos frequentes (−0,84 em comparação com −0,28; p = 0,04). Conclusão Este estudo mostrou o efeito negativo das doses cumulativas de prednisolona sobre o crescimento linear, que foi maior em crianças com ≥ 4 recidivas.

Predictive Value of Serum Interleukins in Children with Idiopathic Nephrotic Syndrome.

Pro-inflammatory cytokines have been suggested in the pathogenesis of idiopathic nephrotic syndrome (INS), with conflicting results. This study was performed to identify alteration of different serum interleukins (ILs) in children with INS, and their predictive value in response to steroid treatment. Three groups of children (27; steroid-sensitive INS, 21; steroid-resistant INS, and 19 healthy controls) with normal serum C3, negative serologic tests of hepatitis B virus (HBV), hepatitis C virus (HCV), human immune deficiency virus (HIV), and parasitic infections were included in this study. Serum concentrations of IL-1ß, IL-2, IL-6, IL-8, IL-13, and IL-18 were measured, using quantitative colorimetric sandwich ELISA kits. Children with secondary nephrotic syndrome, inflammations, systemic disorders, and chronic kidney disease were excluded. The serum concentration of all ILs; except IL-13 and IL-18; was significantly higher in children with INS, compared with the healthy controls. Serum IL-2 had the highest sensitivity of (95.24%) in patients with INS. All of the serum ILs had acceptable accuracy in children with INS, compared with the control group. The serum concentration of IL-1ß, IL-6, and IL-8 was significantly higher in children with steroid-sensitive nephrotic syndrome (SSNS), compared with steroid-resistant nephrotic syndrome (SRNS). All of these ILs had acceptable accuracy for the prediction of steroid response in patients with INS. Our findings suggested the pathogenic role of pro-inflammatory cytokines in children with INS, of which IL-1ß, IL-6, and IL-8 were accurate biomarkers for the prediction of steroid response in these patients.

Effect of prednisolone on linear growth in children with nephrotic syndrome.

OBJECTIVE: This study aims at determining the relationship between prednisolone cumulative dose and linear growth in pre-pubertal children with idiopathic nephrotic syndrome. METHOD: This cross-sectional study was conducted on all children with idiopathic nephrotic syndrome registered to the pediatric nephrology department at the main referral children's hospital in Southwestern Iran. Inclusion criteria included age (males <12 years; females <10 years), >6 months of use, and the minimum prednisolone cumulative dose of 152mg/kg. The exclusion criteria were individuals who had entered puberty or had other diseases affecting linear growth. Based on the prednisolone cumulative dose of ≥550mg/kg (four or more relapses), the children were divided into two groups. All data regarding age, height, and weight at disease onset and the last visit, bone age, and the parents' height were collected. Secondary variables including mid-parental target height and predicted adult height were also calculated. Height data were compared between the different rates of relapse. RESULTS: A total of 97 children (68% male) were enrolled. Their post-treatment mean height Z-score was less than that obtained before treatment (-0.584 vs. -0.158; p=0.001). Subjects with higher prednisolone cumulative doses were found to have more reduction in height Z-score (p=0.001). Post-treatment height prediction also showed less growth potential compared to pre-treatment target height (p=0.006). Thirty-three children (34.4%) had four or more relapses, among whom more mean-height Z-score decreases were found compared to those with less-frequent relapses (-0.84 vs. -0.28; p=0.04). CONCLUSION: This study showed the negative effect of cumulative dosages of prednisolone on linear growth, which was greater in children with four or more relapses.

Validity of urine neutrophile gelatinase-associated lipocalin in children with primary vesicoureteral reflux.

BACKGROUND: Vesicoureteral reflux (VUR) is the most common congenital urinary tract abnormality in children. The objective of this study was to evaluate the diagnostic value of urine neutrophil gelatinase-associated lipocalin (NGAL) in children with primary vesicoureteral reflux (VUR). MATERIALS AND METHODS: A total of 69 patients were evaluated in 2 groups with (32) and without (37) VUR. Patients with secondary VUR, infectious or inflammatory disorders, obstructive uropathies, and acute or chronic kidney disease were excluded. Urine NGAL level was measured by ELISA kit. RESULTS: Mean age of children with VUR was 36.84 ± 28.16, compared to those without VUR 32.32 ± 29.08, with no significant difference (p = 0.51). Mean urine NGAL (p = 0.012) and urine NGAL/Cr (p = 0.003) were higher in patients with VUR. In addition, urine NGAL/Cr increased significantly in patients with decreased parenchymal function, compared to those with normal DMSA scan. Using the cutoff value of 0.888, urine NGAL had 84% sensitivity and 81% specificity for diagnosis of VUR. Based on AUC (0.86), urine NGAL had acceptable diagnostic accuracy in children with VUR. CONCLUSION: The results of this study support the evidence that urine NGAL/Cr is a sensitive, specific and accurate biomarker for diagnosis of children with primary VUR.

Improvement Of Congenital Chloride Diarrhea With Corticosteroids: An Incidental Finding.

Congenital chloride diarrhea of infancy is a life threatening disease. We discuss two boys with congenital chloride diarrhea over a long time period before and after kidney transplantation. In the first case, prenatal sonography revealed polyhydramnios and generalized bowel loop distention. The genetic study confirmed congenital chloride diarrhea of infancy. Multiple episodes of severe dehydration, hyponatremia and acute tubular necrosis were seen during the follow up period. He underwent a year of hemodialysis before kidney transplantation. Three periods of improvement concerning diarrhea occurred with the use of corticosteroids, taken for other reasons. These improvements were seen after prednisolone administration for mastoiditis and following prednisolone administration for kidney transplantation. The second case was a 3.5 year old boy who is the cousin of the first case. He was referred to hospital with chronic watery diarrhea, metabolic alkalosis, hypokalemia, hyponatremia and failure to thrive in the first year of life. He was also treated with prednisolone and showed significant improvement.

Role of Calcium to Citrate Ratio in Predicting Stone Formation in Idiopathic Hypercalciuria Children (2-12 Years Old).

OBJECTIVE: Considering the predictive role of the relatively low urinary citrate for stone formation, especially in hypercalciuric patients, this study is aimed at comparing urine calcium to citrate (Ca/Cit) ratio in 3 groups of children, including patients with idiopathic hypercalciuria with and without renal stone as well as the healthy children. METHODS: This study was carried out on 96 children (2 to 12 years old) referred to a pediatric nephrology clinic in the city of Ahvaz, Southwest Iran. All the children underwent renal ultrasonography, urinalysis, and measurement of random nonfasting urine Ca, Cr, and citrate. Those with secondary hypercalciuria, urinary tract malformations, and/or functional abnormalities of the gastrointestinal tract were excluded from the study. RESULTS: The mean Ca/Cit. ratio (mg/mg) in the three groups, including children with hypercalciuric with and without renal stones and the healthy children (control group), was 0.44 ± 0.14, 0.39 ± 0.13, and 0.19 ± 0.08, respectively, which showed a significant difference (P < .001). There was also a significant difference in Ca/Cit ratio between the first and the control group by Tukey's range test (P < .001). Mean urinary Ca/Cit ratio in those with a positive family history of urolithiasis within three groups was 0.42 ± 0.17 and in those with a negative family history was 0.32 ± 0.16 (P = .013). Mean Ca/Cit. ratio (mg/mg) of 0.25 showed a sensitivity of 90.6% (confidence interval: 75.7-96.7%) and a specificity of 81.2% (confidence interval: 64.7-91.1%) to differentiate between the renal stone group and the control group. CONCLUSION: High Ca/Cit ratio can predict stones formation in hypercalciuric patients, especially in those with a positive family history of urolithiasis. The present study found the cutoff level of 0.25 for Ca/Cit. ratio as the highest prognostic value for renal stone formation.

Childhood onset type 1 diabetes at a tertiary hospital in south-western Iran during 2000-2015: Rapid increase in admissions and high prevalence of DKA at diagnosis.

AIMS: Incidence of type 1 diabetes mellitus (T1DM) is increasing worldwide. We aimed to study trends in presentation and incidence of childhood diabetes in the last 15years in south-western Iran. METHODS: During a detailed review of compiled records of the main tertiary children's hospital of southwest of Iran, from January 2000 to December 2009, the following clinical information relevant to diabetes were analysed: admissions, demographic data, clinical and laboratory findings, hospital course, and mortality. Study continued 5years more to find out the real rate of increase. Significant findings with respect to the incidence of DKA, gender and age of subjects were summarized from among these cases. A total of 297 (known and new) cases were enrolled in the 1st (10year) stage of study and 691 new subjects in the 2nd (5year) period to check the trend in the whole 15year study period. RESULTS: In the 1st period; excluding 129 repeated admissions, 297 cases were enrolled for analysis: 223 new and 74 known cases. Among the new cases, 67.3% presented with DKA, without any gender bias. Mortality rate in DKA subjects was 4% with higher risk in the <2year group and in girls (boy: girl=1:7; p=0.039). Adding the 2nd study period (total 15years) disclosed a rapid rise of incidence (new cases/5year) as 89, 134 and 691 new diabetes cases for the 1st, 2nd and 3rd 5year period of study respectively. The final annual incidence for <15year age group in 2015 was 13.35/100000. CONCLUSIONS: The most new cases of T1DM presented with DKA, which is similar to the other developing countries. Such an increasing incidence of DM proposes more attention for periodic retraining of families and health staff to earlier diagnosis and management of new subjects, and to reduce morbidity and mortality rates.

Worldwide view of nephropathic cystinosis: results from a survey from 30 countries.

BACKGROUND: Nephropathic cystinosis is a rare inherited metabolic disorder leading to progressive renal failure and extra-renal comorbidity. The prognosis relies on early adherence to cysteamine treatment and symptomatic therapies. Developing nations [DiN] experience many challenges for management of cystinosis. The aim of this study was to assess the management characteristics in DiN compared with developed nations [DeN]. METHODS: A questionnaire was sent between April 2010 and May 2011 to 87 members of the International Pediatric Nephrology Association, in 50 countries. RESULTS: A total of 213 patients were included from 41 centres in 30 nations (109 from 17 DiN and 104 from 13 DeN). 7% of DiN patients died at a median age of 5 years whereas no death was observed in DeN. DiN patients were older at the time of diagnosis. In DiN, leukocyte cystine measurement was only available in selected cases for diagnosis but never for continuous monitoring. More patients had reached end-stage renal disease in DiN (53.2 vs. 37.9%, p = 0.03), within a shorter time of evolution (8 vs. 10 yrs., p = 0.0008). The earlier the cysteamine treatment, the better the renal outcome, since the median renal survival increased up to 16.1 [12.5-/] yrs. in patients from DeN treated before the age of 2.5 years of age (p = 0.0001). However, the renal survival was not statistically different between DeN and DiN when patients initiated cysteamine after 2.5 years of age. The number of transplantations and the time from onset of ESRD to transplantation were not different in DeN and DiN. More patients were kept under maintenance dialysis in DiN (26% vs.19%, p = 0.02); 79% of patients from DiN vs. 45% in DeN underwent peritoneal dialysis. CONCLUSIONS: Major discrepancies between DiN and DeN in the management of nephropathic cystinosis remain a current concern for many patients living in countries with limited financial resources.

Acute kidney injury in Hemiscorpius lepturus scorpion stung children: Risk factors and clinical features.

Acute kidney injury (AKI) is frequently seen in Hemiscorpius lepturus scorpion stung children. We have previously reported several victims with hemolytic uremic syndrome (HUS) and a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 deficiency. Hence, we conducted this study to identify predictive factors and clinical features of AKI in H. lepturus scorpion stung patients. We included all 215 H. lepturus scorpion stung children with no previous renal diseases in two groups (with and without AKI) and compared them based on their clinical and laboratory findings. AKI was found in 27.4% of patients, they were significantly younger and with lower body weight (P = 0.006, P = 0.011, respectively). There was a significant difference between groups with and without AKI in findings such as fever (P = 0.003), hypertension (P <0.001), hemolytic anemia (P <0.001), thrombocytopenia (P <0.001), massive proteinuria (P <0.001), hemoglobinuria (P <0.001), pyuria (P <0.001), and hematuria (P = 0.004). HUS was in 5.5% and disseminated intravascular coagulation in 14.6% which had a significant association with AKI (P <0.001).There were several independent predictors for AKI in a multivariate regression model including thrombocytopenia (P = 0.002), pyuria (P = 0.01), proteinuria (P =0.01), and fever (P = 0.02). Hemodialysis was performed in four patients but kidney function improved in all patients and there was no findings of renal impairment after three months follow-up. We found several predictors for AKI in children following H. lepturus scorpion sting including younger age, delay in receiving medical care, pigmenturia, microangiopathic hemolytic anemia, proteinuria, and pyuria.

Validity of Neutrophil Gelatinase Associated Lipocaline as a Biomarker for Diagnosis of Children with Acute Pyelonephritis.

PURPOSE: Novel biomarkers have been investigated for various renal disorders, including urinary tract infection (UTI). The aim of this study was to assess whether urine neutrophil gelatinase associated lipocaline (NGAL), could represent a reliable biomarker for diagnosis and treatment of children with acute pyelonephritis (APN). MATERIALS AND METHODS: A total of 37 children (32 females, 5 males) with APN were included in this prospective study. Urine NGAL was measured before and 5-7 days after antibiotic treatment in the UTI group, using ELISA kit and compared with 26 (8 females, 18 males) control group children admitted for other bacterial infections. RESULTS: Mean age of the UTI group was 39 ± 28 months, compared to 43.6 ± 31.5 months for the control group with no statistically significant difference. Median urine NGAL level was significantly higher in patients with APN than the other subjects [0.48 (interquartile range (IQR): 0.15-0.72) vs. 0.065 (0.01-0.24), P = .001], and decreased significantly after antibiotic treatment (P = .002). Using a cutoff of 0.20 ng/mL, sensitivity and specificity of urine NGAL were 76% and 77% for prediction of APN, respectively. The area under the ROC curve (AUC) for urine NGAL was 0.75 (CI= 0.61-0.88), suggesting urine NGAL as a relatively good predictive biomarker of APN. CONCLUSION: Urine NGAL is a good biomarker for diagnosis and treatment monitoring of APN in children. .

Comparison of survival in patients with end-stage renal disease receiving hemodialysis versus peritoneal dialysis.

Although the life expectancy of patients with end-stage renal disease (ESRD) has improved in recent years, it is still far below that of the general population. In this retrospective study, we compared the survival of patients with ESRD receiving hemodialysis (HD) versus those on peritoneal dialysis (PD). The study was conducted on patients referred to the HD and PD centers of the Emam Khomini Hospital and the Aboozar Children's Hospital from January 2007 to May 2012 in Ahvaz, Iran. All ESRD patients on maintenance HD or PD for more than two months were included in the study. The survival was estimated by the Kaplan-Meier method and the differences between HD and PD patients were tested by the log-rank test. Overall, 239 patients, 148 patients on HD (61.92%) and 91 patients on continuous ambulatory PD (CAPD) (38.55%) with mean age of 54.1 ± 17 years were enrolled in the study. Regardless of the causes of ESRD and type of renal replacement therapy (RRT), one-, two- and three-year survival of patients was 65%, 51% and 35%, respectively. There was no significant difference between type of RRT in one- (P-value = 0.737), two- (P-value = 0.534) and three- (P-value = 0.867) year survival. There was also no significant difference between diabetic and non-diabetic patients under HD and CAPD in the one-, two- and three-year survival. Although the three-year survival of diabetic patients under CAPD was lower than that of non-diabetic patients (13% vs. 34%), it was not statistically significant (P-value = 0.50). According to the results of the current study, there is no survival advantage of PD during the first years of initiation of dialysis, and the one-, two- and three-year survival of HD and PD patients is also similar.

The protective effect of theophyline in cisplatin nephrotoxicity.

Cisplatin is a potent and a major anti-neoplastic drug in the treatment of a broad spectrum of malignancies. However, its clinical use is limited by renal tubular dysfunction that occurs in a significant percent of patients. The aim of the present study was to evaluate the possible protective effect of theophyline in the prevention of cisplatin-induced nephrotoxicity. The trial design was prospective, randomized, double-blinded and placebo controlled. Chemotherapeutic patients who received cisplatin at a dosage of at least 50 mg/m 2 alone or in combination with other chemotherapy agent(s) were included in the study. There were a total of 76 patients who were randomly divided into two groups. In group 1 (n = 38), placebo was advised; in group 2 (n = 38), patients received 4 mg/kg aminophyline as an intravenous loading dose, followed by theophyline in a dose of 200 mg three times daily orally for four consecutive days. The placebo group had 22 males and 16 females and the theophyline group had 26 males and 12 females. The mean age was 51 ± 17.6 years and the mean dose of cisplatin was 86.71 ± 43.18 mg. The prevalence of cisplatin nephrotoxicity in groups 1 and 2 was 7.9 and 5.3%, respectively, and the difference was not significant (P = 1). In addition, there was no significant association of cisplatin nephrotoxicity with age (P = 0.1), gender (P = 0.64) and mean dose of cisplatin (P = 0.8). These results indicate that prophy-lactic application of aminophyline and theophyline does not have a protective effect against cisplatin nephrotoxicity.

Predisposing factors for infantile urinary calculus in south-west of Iran.

INTRODUCTION: Urinary calculi in infants are relatively infrequent, but their incidence has increased in the recent decades. The aim of this study was to investigate the clinical presentation, metabolic risk factors, and urinary tract abnormalities in infants suffering from kidney calculus. MATERIALS AND METHODS: A total of 152 infants were admitted between 2009 and 2012 with ultrasonography-proven urolithiasis. A Foley catheter was fixed and 24-hour urine samples were analyzed for calcium, citrate, oxalate, uric acid, and magnesium. For detecting cystinuria, qualitative measurement of urinary cystine was done by nitroprusside test. Urinary tract structural abnormalities were also evaluated. RESULTS: The mean age at the diagnosis of kidney calculus was 5.46 months (range, 15 days to 12 months). The most common clinical findings were restlessness and urinary tract infection. A family history of calculi was found in 67.1% of the patients and 68.4% were born to consanguineous marriages. Metabolic abnormalities and urinary tract abnormalities were found in 96.1% and 15.1% of children, respectively. Urinary tract abnormalities were more common in girls. The most common metabolic risk factors were hypercalciuria (79.6%) and hypocitraturia (40.9%). Hyperoxaluria and hypomagnesuria were found in about 28% of patients, both of which were associated with bilateral urolithiasis. CONCLUSIONS: These findings show that urinary metabolic abnormalities are very common in infants with urolithiasis. Appropriate evaluation of urinary metabolic parameters can lead us to proper diagnosis and treatment.

High frequency of acquired ADAMTS13 deficiency after hemolysis in Hemiscorpius Lepturus (scorpion) stung children.

OBJECTIVE: To estimate the frequency of acquired ADAMTS13 deficiency in severe cases of Hemiscorpius lepturus stung patients and the frequency of acute kidney injury (AKI) in these patients. METHODS: Sixty scorpion stung children who were referred with severe hemolysis and hemoglobinuria were studied. None of them had received blood products and no one had a past medical history of renal failure. RESULTS: Plasma levels of ADAMTS13 and ADAMTS13 antibody (IgG) were measured using ELISA. ADAMTS13 was decreased in 91.7 % of patients and the anti-ADAMTS13 antibody (Ab) was increased in 98.3 %. ADAMTS13 decreased in all of the patients with acute kidney injury and none of those with normal levels of ADAMTS13 developed renal failure; all patients with AKI had also increased levels of ADAMTS13Ab. Acute kidney injury was found in 23.3 % and had significant association with severe anemia, thrombocytopenia, pyuria, hematuria and considerable proteinuria (p < 0.001). Disseminated intravascular coagulation (DIC) and Hemolytic uremic syndrome (HUS) developed in 6.7 % and 10 % respectively. CONCLUSIONS: The index findings demonstrate that Hemiscorpius lepturus sting is usually associated with ADAMTS13 deficiency, and increased ADAMTS13 autoantibody. These combined mechanisms may contribute to scorpion sting-induced coagulopathies and may predispose patients to develop DIC and HUS.

Toilet training in Iranian children: a cross-sectional study.

OBJECTIVE: There is still controversy about the methods and the age of toilet training that are varied in different cultures. This is a survey of Iranian parents' views about the appropriate age, the true age, the methods used for toilet training, and the association with voiding problems. METHODS: Questionnaires were filled-out containing items on demographic data, the parents' view, the method applied, and the age at which toilet training was accomplished in children aged 2 months to 5 years. In addition, pediatric lower urinary tract scoring system questionnaires were distributed among 217 children aged 5-15 years with lower urinary tract symptoms between 2008 and 2010 in outpatient clinics. P<0.05 was considered significant. FINDINGS: 566 children (335 girls and 231 boys) were assigned to the study. In asymptomatic group, the majority of parents believed that the appropriate age to start toilet training was 1-2 years. The method used by the parents was intensive in 52% and child-oriented in 44%. There was strong reverse correlation between the level of education of father with applying punishment for training and direct correlation between toilet refusal and the later age of completing toilet training (LR: 6.3, P<0.05). The mean age of completing toilet training was about 23 months in asymptomatic and 23.7 months in symptomatic children (P>0.05). There was no correlation between wetting episodes at day or night and the age of toilet training. CONCLUSION: Intensive approach was more popular and the age of toilet training had no influence on the lower urinary tract symptoms.

Clinical correlation between hypercalciuria and nocturnal enuresis.

Hypercalciuria may present with dysuria, urinary incontinence and nocturnal enuresis (NE). To determine the frequency of hypercalciuria in NE patients and normally continent children, we studied 122 consecutive pre- school children with NE referred to our nephrology clinic during two years, from September 2007 to August 2009. We measured the 24- hour urinary calcium. Furthermore, we compared the response to nasal desmopressin in hypercalciuric and normocalciuric patients. Hypercalciuria was found in 26 (21.3 %) of the NE patients as compared with five (4.5%) of 110 continent children [(P < 0.001), OR = 5.68 (95% CI, 2.1-15.4)]. In addition, the mean 24- hour urine calcium/body weight ratio (24h- U- Ca/Bw) was higher in NE patients, 3.04 ± 1.54 vs. 2.57 ± 0.9, respectively (P = 0.005). Wet nights per week in both NE patients with and without hypercalciuria at the first visit ranged from two to seven (median: 6 and 7, respectively), and the mean overall success rate of the nasal desmopressin therapy was 83.3% and 90%, respectively (P > 0.05). The response to desmopressin above 90% occurred within one month of therapy without a significant change in the levels of hypercalciuria. We conclude that these results suggest that hypercalciuria has a significant association with NE and does not interfere with the desmopressin therapy.