CTNS Mutations Causing Autosomal Recessive Cystinosis in a Subset of Iranian Population: Report of Two New Variants.

Background: Nephropathic cystinosis (NC) is an uncommon autosomal recessive disease with abnormality in lysosomal storage that appearances in patients with mutations in the CTNS gene encoding a lysosomal transporter cystinosin. Disrupted function of this transporter is followed by accumulation of cysteine crystals in cells of many various organs. This study aimed to investigate the mutations of the CTNS gene in 20 Iranian patients suffering from NC. Materials and Methods: Twenty Iranian cystinosis patients referring to Imam Hossein Hospital of Isfahan were employed in this case-series study. After extraction of genomic DNA, the promoter and entire coding regions of CTNS were analysed using sanger sequencing in all patients. Gap-Polymerase Chain Reaction was used to detect 57 kb deletion in the CTNS gene. In silico study was performed to analyse variants. Results: The large deletion was not seen in any NC patients. Molecular analysis which conducted to screen the CTNS gene of patients, identified eight different mutations, including two new mutations, c.971_972insC and c.956_956delA, which have not been reported before, and c.681G>A mutation, which was identified as a frequently founded mutation in the Middle East and was observed in 35% of patients. In this study, five other mutations including c.1015G>A, c.922G>A, c.323_323delA, c.433C>T, and c.18_21delGACT were also observed, which have been reported in previous studies. Conclusion: The mutational spectrum in the Iranian patients is the same as previously reported mutations except that two new mutations were found. The present findings will present suggestions for regular molecular diagnosis of cystinosis in Iran.

Cutaneous microvascular occlusion syndrome as the first manifestation of catastrophic lupus-associated antiphospholipid antibody syndrome: a case report.

BACKGROUND: Antiphospholipid syndrome (APS), defined by thrombotic events or obstetric complications in the presence of persistently high antiphospholipid antibodies, is characterized by a wide variety of clinical presentations and the effects of vascular occlusion can impact almost any organ system or tissue. Since adult-onset APS classification criteria are not well verified in pediatrics (where pregnancy-related problems are rare), estimating childhood prevalence is challenging. Stroke and pulmonary embolism are thromboembolic events occurring in children that can cause considerable long-term morbidity. Children with APS are more prone to recurrent thromboembolism than adults. Cutaneous symptoms are prominent and typically represent the first clue of APS. Although dermatologic findings are exceedingly heterogeneous, it is essential to consider which dermatological symptoms justify the investigation of antiphospholipid syndrome and the required further management. CASE PRESENTATION: We describe a seven-year-old Iranian boy with retiform purpura and acral cutaneous ischemic lesions as the first clinical presentation of antiphospholipid syndrome in the setting of systemic lupus erythematous. CONCLUSION: APS in pediatrics, is associated with a variety of neurologic, dermatologic, and hematologic symptoms. Therefore, it is essential for pediatricians to be aware of the rare appearance of Catastrophic APS as an initial indication of APS.

Is CKD Screening Program Necessary in Developing Countries?

INTRODUCTION: The prevalence of congenital anomaly of kidney and urinary tract (CAKUT) and related chronic kidney disease (CKD) may be increased in countries with higher rate of consanguineous marriage. Therefore, we evaluated the prevalence of CKD by biochemical and kidney ultrasound measurements in the firstgrade pupils. METHODS: This cross -sectional study was carried on children aged 6 to 7 years. Urine analysis, serum creatinine, urine microalbumin to creatinine ratio and kidney ultrasound have been evaluated for participants. RESULTS: 653 children were recruited to the study. Stage 1 and stage 2 systolic hypertension have been found in 6.5 and 1%, respectively. The percentage of stage 1 and stage 2 diastolic hypertension were 1.3 and 0.3%, respectively. Both weight Z-score and waist Z-score had positive correlation with systolic and diastolic blood pressure. Microalbuminuria (in 2.5%) did not have any correlation with the following factors: hypertension, body mass index, microscopic hematuria, glomerular filtration rate, kidney sonographic abnormalities or kidney parenchymal thickness and family history of kidney transplantation. GFR less than 90 mL/ min /1.73 m2 has been detected in 1.8% of the students. Only 1.7% had urine RBC more than 5 in each high-power field (hpf). Approximately 1.5% had anatomical abnormality of kidney and urinary tract (hydronephrosis or hydroureter). CONCLUSION: Considering the higher prevalence of elevated blood pressure and microalbuminuria in Iranian children, a CKD screening program based on evaluating microalbuminuria and blood pressure measurement is needed. However, irrespective of high prevalence of consanguineous marriage in Iran, using kidney ultrasound as a screening tool has not been recommended.  DOI: 10.52547/ijkd.7306.

The associations of low birth weight with primary hypertension in later life: A systematic review and meta-analysis.

BACKGROUND: The purpose of this study was to evaluate of the study the role of LBW on EH in children and by studying the existing published literature. MATERIALS AND METHODS: A comprehensive literature search for original studies was conducted in Clarivate Analytics Web of Science, PubMed, Scopus, and Embase until July 2019. The search used all of the main keywords and its synonyms include essential hypertension, primary hypertension, essential arterial hypertension, idiopathic hypertension, spontaneous hypertension; child, childhood, children, pediatric, pediatrics, infant, infancy, newborn, neonatal, adolescence, teenagers; and BW, newborn weight, neonatal weight, BW. RESULTS: Twelve articles were eligible for the final evaluation. Due to the difference among studies in the report, studies were divided into two-part. The first part, articles were reported in the LBW and NBW groups (interested outcome were SBP and DBP), and the second part was composed as the EH and NR groups (interested outcome were LBW and NBW). In the first part, SMD for SBP was -1.09 with 95% CI (-1.91,-0.26), and was statistically significant (Z=2.58, P=0.010). As well, SMD for DBP was -0.68 with 95% CI (-1.32,-0.05) statistically significant (Z=2.10, P=0.036). In the second part, SMD for SBP was 0.77 with 95% CI (-0.85, 2.39), and was statistically significant (Z=0.93, P=0.352). Subgroup analysis was performed on the pre-term and full- term babies. SMD for SBP was -0.08 with 95% CI (-0.51, 0.35) in the pre-term, and the full-term was -2.07 with 95% CI (-3.47, -0.67). As well, SMD for DBP was -0.02 with 95% CI (-0.20, 0.17) in the preterm, and the term was -1.35 with 95% CI (-1.57, -1.13). CONCLUSION: Although findings of the correlation between BW and EHTN have conflicted. To our knowledge, this is the first report that attempts to a conclusion.

Chronic Kidney Disease in Iran: First Report of the National Registry in Children and Adolescences.

PURPOSE: Knowing the epidemiological aspects of chronic kidney disease (CKD) in children is crucial for early recognition, identification of reversible causes, and prognosis. Here, we report the epidemiological characteristics of childhood CKD in Iran. MATERIALS AND METHODS: This cross-sectional study was conducted during 1991 - 2009. The data were collected using the information in the Iranian Pediatric Registry of Chronic Kidney Disease (IPRCKD) core dataset. RESULTS: A total of 1247 children were registered. The mean age of the children at registration was 0.69 ± 4.72 years (range, 0.25 -18 years), 7.79 ± 3.18 years for hemodialysis (HD), 4.24 ± 1.86 years for continuous ambulatory peritoneal dialysis (CAPD), and 3.4±1.95 years for the children who underwent the renal transplantation (RT) (P < .001). The mean year of follow-up was 7.19 ± 4.65 years. The mean annual incidence of CKD 2-5 stages was 3.34 per million age-related population (pmarp). The mean prevalence of CKD 2-5 stages was 21.95 (pmarp). The cumulative 1-, 5-, and 10-year patients' survival rates were 98.3%, 90.7%, and 84.8%, respectively. The etiology of the CKD included the congenital anomalies of the kidney and urinary tract (CAKUT) (40.01%), glomerulopathy (19.00%), unknown cause (18.28%), and cystic/hereditary/congenital disease (11.14%). CONCLUSION: The incidence and prevalence rate of pediatric CKD in Iran is relatively lower than those reported in Europe and other similar studies. CAKUT was the main cause of the CKD. Appropriate management of CAKUT including early urological intervention is required to preserve the renal function. Herein, the long-term survival rate was higher among the children with CKD than the literature.

The Effect of Parental Consanguinity on Clinical Course and Outcome of Children with Focal Segmental Glomerulosclerosis, a Report from Isfahan, Iran.

INTRODUCTION: Focal segmental glomerulosclerosis (FSGS) accounts for 20% of nephrotic syndromes among children as well as 75% of the steroid resistant nephrotic syndrome (SRNS). The aim of the present study was to evaluate the influence of parental consanguinity on clinical course and outcome of FSGS in children. METHODS: This historical cohort was carried out on 69 children affected by steroid resistant FSGS. Patients' data were recorded at the initial and the final analyses and response to therapeutic measures. Subjects were also questioned about the history of parental consanguinity. RESULTS: Forty-four participants (63.8%) were male with a male to female proportion of 1.76:1. Mean baseline age was 5.69 ± 2.39 (range: 1 to 10). Fifty-one patients (73.9%) reported consanguinity. A more significant resistance to cyclosporine A and cyclophosphamide was observed in participants denoting parental consanguinity than those with no kinship. The average renal survival time obtained significantly lower among those reporting consanguinity compared to the others (8.33 vs. 10.44 years, P < .05). According to univariate analysis results, parental consanguinity was a risk factor for developing chronic kidney disease (HR = 4.56, 95% CI: 1.06 to 19.47; P < .05). CONCLUSION: Patients with FSGS plus parental consanguinity presented less renal survival time with more resistance to cures being more predisposed to the development of CKD.

Preventive Effect of L-Carnitine on Scar Formation During Acute Pyelonephritis: A Randomized Placebo-Controlled Trial.

BACKGROUND: Urinary tract infection and pyelonephritis are clinical problems that frequently occur in children. Several factors are responsible for renal tissue injury, morbidity, and renal scarring after pyelonephritis. The aim of this study was to evaluate the preventive effect of L-carnitine on renal scarring in acute pyelonephritis. METHODS: A randomized double-blind clinical trial was conducted on 65 children aged 6 months to 10 years. Patients were randomized into 2 groups to receive 7-day treatment with only antibiotics without L-carnitine (control group; n = 32) and 7-day treatment with L-carnitine (case group; n = 33) during the acute phase of infection. Technetium-99m-labeled dimercaptosuccinic acid (DMSA) scintigraphy was performed for all children during the acute phase (in 2-7 days of hospitalization) and late phase. P-value less than 0.05 was statistically significant. RESULTS: We recruited 65 participants in the study: 32 children in control group and 33 children in case group. Three children in the control group and 2 children in the case group refused to perform the second DMSA scan. Overall, data analysis at the end of the study was done on 60 patients. Age distribution of girl patients with upper urinary infection was 6.5% in girl children aged between 6 months and 12 months, 41.1% aged between 1 and 5 years, 33.3% aged between 5 and 10 years, respectively. There was no significant difference between 2 groups in age and sex. There was no significant difference between 2 groups in systolic blood pressure, diastolic blood pressure, the lab data including urine white blood cells and serum erythrocyte sedimentation rate, and antibiogram profiles. Voiding dysfunction was detected in 10% of the participants. The baseline DMSA was not significantly difference in 2 groups, but worsening of kidney lesions was significantly higher in control group after 6 months (P = 0.012). CONCLUSION: Our study showed that L-carnitine significantly decreased renal scarring because of acute pyelonephritis.

Importance of Mean Platelet Volume in Predicting Cardiac Mechanics Parameters and Carotid-Intima Media Thickness in Children With End-Stage Renal Disease and Comparison With Healthy Children.

Cardiovascular disease (CVD) is the major cause of death in children with ESRD. Echocardiography and Doppler ultrasound are useful devices for diagnosing cardiovascular abnormalities in such patients. However, they are expensive, difficult to perform as a routine, and not available in many centers. Therefore, finding a more accessible and inexpensive method for CVD evaluation biomarkers is needed. The aim of this study was to evaluate the relationship between mean platelet volume (MPV) as a routine hematological parameter with cardiac mechanics characteristics in children with ESRD. Forty-two children under dialysis and 60 age- and sex-matched healthy subjects as control group were enrolled in the study. Carotid-intima media thickness (CIMT) and echocardiographic parameters were measured in both groups. In addition, hematological and biochemical variables were evaluated in blood samples of participants. MPV was significantly higher in patients than in controls. CIMT, left ventricular mass index (LVMI), end diastolic diameter, strain rate, and global longitudinal strain were significantly different between the two groups. MPV was positively correlated with LVMI and inversely with ejection fraction. In receiver operating characteristic (ROC) curve analysis, the area under the ROC curve (AUC) values for MPV in predicting left ventricular hypertrophy (LVH) and abnormal CIMT were 0.65 (P = 0.07) and 0.53 (P = 0.74), respectively. MPV was correlated with some cardiac abnormalities in children with ESRD. However, it could not show appropriate predictive values in diagnosing LVH and subclinical atherosclerosis. Further studies with prospective design could shed more light in this topic.

Essential hypertension in children, a growing worldwide problem.

Hypertension is one of the most common diseases worldwide. For many decades, it was considered as a problem related to adult population; however, its incidence in children has also been increased in recent years. Although secondary causes of hypertension are more common in children, few studies have been published focusing on the growing epidemic rate of essential hypertension in children and adolescents. Considering the importance of essential hypertension and its cardiovascular consequences, we review briefly its epidemiology and risk factors in children.

Association of Matrix Metalloproteinase-2 and Matrix Metalloproteinase-9 With Endothelial Dysfunction, Cardiovascular Disease Risk Factors and thrombotic events in Children With End-stage Renal Disease.

INTRODUCTION: Cardiovascular disease (CVD) is the main cause of death in children with end-stage renal disease (ESRD). Matrix metalloproteinases (MMP-2 and MMP-9) are members of endopeptidases which contribute to CVD. The aim of this study was to evaluate the association of MMP-2 and MMP-9 with markers of endothelial dysfunction, soluble E-selectin and brachial flow-mediated dilatation; several biochemical risk factors of CVD; and thrombotic incidents in children with ESRD. MATERIALS AND METHODS: Thirty-one children with ESRD and 18 healthy age- and sex-adjusted controls underwent measurement of serum levels of MMP-2, MMP-9, soluble E-selectin, phosphorus, calcium, parathyroid hormone, lipid profile, thrombotic factors, and albumin. Flow-mediated dilatation was measured in both groups by Doppler ultrasonography. Thrombotic events were assessed in patients with ESRD. RESULTS: Matrix metalloproteinase-2 positively correlated with systolic and diastolic blood pressure, soluble E-selectin, creatinine, cholesterol, triglyceride, low-density lipoprotein cholesterol, phosphorus, and parathyroid hormone and negatively correlated with body mass index, hemoglobin, high-density lipoprotein cholesterol, and flow-mediated dilatation, while MMP-9 correlated with soluble E-selectin, phosphorus, parathyroid hormone, and albumin and negatively correlated with body mass index and hemoglobin. Six patients (19.3%) had thrombotic incidents. There was no significant difference between the levels of MMP-2 and MMP-9 in the children with and without thrombotic events. CONCLUSIONS: This study determined the associations of MMP-2 and MMP-9 with markers of endothelial dysfunction and several traditional and uremia related CVD risk factors in children with ESRD. No associations were found between these two MMPs and thrombotic events.

First Report on the Percentiles of the Glomerular Filtration Rate in Iranian Children Using the 2009 Schwartz Equations.

The glomerular filtration rate (GFR) is widely considered the best overall index of renal function. The Schwartz equations are designed for measuring the GFR in children between 1 and 16 years of age. In the present study, we investigated the percentiles of the GFR in a general population of Iranian children with no known renal disease via the 2009 Schwartz equations (updated and combined equations). Between 2010 and 2011, we selected 687 children aged 7-16 years from the Iranian province of Isfahan. Blood samples were analyzed for blood urea nitrogen, creatinine, and cystatin C. For each child, we calculated the GFR using 2 Schwartz equations. The Wilcoxon test was applied to examine the differences in the estimated GFRs between the equations. To determine the correlation between the GFRs obtained via the updated and combined Schwartz equations in the boys and the girls and also for the correlation between age and the GFR, we performed the Pearson or Spearman correlation coefficients. The statistical analyses were conducted using MedCalc, version 12.1.4.0 (MedCalc Software, Mariakerke, Belgium). The mean GFR was 100.06±19.80 mL/min/1.73 m2 based on the updated equation and 96.10±18.44 mL/min/1.73 m2 according to the combined equation. No significant differences were observed between these equations in estimating the GFRs. The correlation analysis for determining the association between age and the GFR estimated by the updated (r=0.05, P=0.1) and combined (r=0.06, P=0.09) Schwartz equations was not statistically significant. In conclusion, in the current study we showed that the updated and combined Schwartz equations exhibited high concordance in estimating GFR values in this age group.

TRPC6 Mutational Analysis in Iranian Children With Focal Segmental Glomerulosclerosis.

INTRODUCTION: Focal segmental glomerulosclerosis (FSGS) ranks among nephrotic syndromes. Research shows that FSGS is brought about by several genes including transient receptor potential cation channel subfamily c member 6 (TRPC6). This study aimed to investigate TRPC6 gene in Iranian FSGS children. MATERIALS AND METHODS: Twenty-six FSGS patients were included. They were all under 16 years old. Polymerase chain reaction amplification and sequencing were performed to examine exons 2 and 13 of TRPC6 gene. RESULTS: Sampling was performed when the patients had a mean age of 9.26 ± 3.19 years. Sixteen children were boys (61.5%); male-female ratio was 1.35:1. Four patients (15.4%) were diagnosed with TRPC6 variants. Three missense nonsynonymous mutations (C121S, D130V, and G162R) and 1 synonymous mutation (I111I) were detected. All variants were novel; in silico analysis predicted D130V and G162R as pathogenic. Patients with and without mutations were not different significantly regarding age at disease onset, sex, consanguinity, hypertension, hematuria, serum creatinine and albumin, rate of progression to kidney failure, response to steroids, and resistance to cyclosporine A and cyclophosphamide. CONCLUSIONS: This study examined exons 2 and 13 of TRPC6 gene in Iranian FSGS children. Four novel TRPC6 variants were detected; in silico analysis showed that 2 variants (D130V and G162R) could be pathogenic. It could be concluded that TRPC6 may be useful for genetic screening in Iranian FSGS children.

Evaluating the effectiveness of adding magnesium chloride to conventional protocol of citrate alkali therapy on kidney stone size.

BACKGROUND: Potassium citrate (K-Cit) is one of the therapeutic solutions broadly used in patients with urolithiasis. However, recent studies have shown that it is not so effective. Therefore, the goal of our study was to evaluate the effect of a combination of K-Cit - MgCl2 oral supplements, on urinary stone size. MATERIALS AND METHODS: This study was performed on 70 asymptomatic urolithiasis cases. The supplements included K-Cit and magnesium chloride (MgCl2), purchased from (Merck Company, Germany). The patients were randomly divided into two groups. The urinary stone size was measured in the control group after prescribing K-Cit alone and the treated group with combination of K-Cit and MgCl2 for 4 weeks by ultrasonography and also urinary parameter was measured in each groups. RESULTS: The mean age of patients was 16.26 ± 5.70 years. Hyperoxaluria and hypercalciuria were seen in 70% and 52% of patients, respectively. Initially, the mean urinary stone size was measured in each groups and there is not any significant different. However, we find a significant decrease in urinary stone size in group which is treated with combination of K-Cit and MgCl2 for 4 weeks in comparison with control group treated with K-Cit alone in the same duration of therapeutic course (5.1 ± 0.8 vs. 2.5 ± 1.2, P < 0.05). All ultrasonography were performed by one radiologist and device. CONCLUSION: Our results suggested that a combination of K-Cit and MgCl2 chloride is more effective on decreasing urinary stone size than K-Cit alone.

The Effect of the Family Empowerment Model on Quality of Life in Children with Chronic Renal Failure: Children's and Parents' Views.

BACKGROUND: Chronic renal failure (CRF) causes a gradual decline in kidney function to the extent that CRF patients need long-term clinical care, which affects the patients' family function and quality of life (QoL). OBJECTIVES: The present study was conducted to study the effects of the family-centered empowerment model on QoL in children with CRF during 2012-2013. PATIENTS AND METHODS: In this quasi-experimental study, 68 children with CRF and their parents were randomly assigned to two groups, intervention and control, via a random numbers table. An empowerment program was then conducted over the course of seven 45-minute sessions, and a questionnaire to ascertain demographic characteristics and the core pediatric QoL Inventory (version 4) were administered to both groups before the sessions and one month after the last training session. The data were analyzed using SPSS 20. RESULTS: The mean age of the children was 10.2 and 10.5 years in the intervention and control groups, respectively. The duration of the disease was five years in both groups. Furthermore, a significant difference was seen in the mean score of the children's QoL from their own perspectives in the physical and psychosocial domains and the total QoL score in the intervention group before and after the training (P < 0.05). CONCLUSIONS: Since family-centered empowerment interventions can determine the training- and treatment-related needs of patients and are low cost and effective, they may help parents promote their children's self-efficacy and QoL.

Association of E-selectin with hematological, hormonal levels and plasma proteins in children with end stage renal disease.

BACKGROUND: Hypercoagulable state is a common serious problem in patients with end-stage renal disease (ESRD). ESRD patients are in a condition of chronic inflammation. An increased level of E-selectin, "a key adhesion molecule that regulates leukocyte bindings to endothelium at damaged sites," accompanies the higher risk of inflammation in ESRD patients. We aimed to investigate the possible correlation among E-selectin as an adhesion molecule, coagulation factors, and inflammatory factors in children with ESRD. MATERIALS AND METHODS: Thirty-five child patients with ESRD who had been on regular dialysis treatment were registered in our study. Nighteen sex- and age-matched healthy volunteers were used as the control group. Laboratory tests were requested for the evaluation of hematological and biochemical parameters, and parathyroid hormone (PTH), and for coagulation state; fibrinogen, protein C, and protein S were measured. The enzyme-linked immunosorbent assay (ELISA) (Biomerica, CA, and IDS, UK). for serum E-selectin assay was provided by R and D Systems (Abingdon, UK). RESULTS: Hemoglubolin (Hb), blood urea nitrogen (BUN), creatinine, calcium, PTH, triglyceride (TG) concentrations in serum as well as E-selectin showed significant difference between the two study groups, as indeed was expected. Serum E-selectin was significantly higher (P value = 0.033) in dialysis patients than in healthy subjects. E-selectin was positively correlated only with phosphorus in ESRD children (r = 0.398, P = 0.018). No association was found for other parameters. CONCLUSION: Although in our study circulating E-selectin concentration "as an inflammatory maker" is independently positively associated with limited blood markers, for better evaluation, well-designed cohort studies should be examined in ESRD children.

Acute oxalate nephropathy following kidney transplantation: Report of three cases.

Calcium oxalate (CaOx) crystal deposition is a common finding immediately after kidney transplantation. However, small depositions of CaOx could be benign while extensive depositions lead to poor graft outcome. Here we report three cases with end-stage renal disease (ESRD), bilateral nephrolithiasis, and unknown diagnosis of primary hyperoxaluria (PH) who underwent a renal transplant and experienced an early-onset graft failure. Although an acute rejection was suspected, renal allograft biopsies and subsequent allograft nephrectomies showed extensive CaOx deposition, which raised a suspicion of PH. Even though increased urinary excretion of CaOx was found in all patients, this diagnosis could be confirmed with further tests including genetic study and metabolic assay. In conclusion, massive CaOx deposition in kidney allograft is an important cause of poor allograft survival and needs special management. Furthermore, our cases suggest patients with ESRD and a history of nephrolithiasis should be screened for elevated urinary oxalate excretion and rule out of PH.

Gene mutation analysis in Iranian children with nephronophthisis: a two-center study.

INTRODUCTION: Nephronophthisis is of the most commonly inherited ciliopathies that leads to end-stage renal disease in children. The NPHP1 gene is the first identified gene responsible for nephronophthisis and related diseases. This study assessed mutations of the NPHP1 gene in 16 Iranian families with at least one member presenting features of nephronophthisis. MATERIALS AND METHODS: Fifty-seven patients diagnosed with chronic kidney disease or end-stage renal disease were referred to Imam Hossein Children Hospital, in Isfahan, Iran. The gene analysis study was carried on 16 patients and their first-degree relatives (40 DNA samples) suspicious of having nephronophthisis. The NPHP1 deletion analysis was performed for exons 5, 7, and 20 of the NPHP1 gene. RESULTS: The patients' median age was 15 years. The mean and median age of the first presentation was 10.06 ± 2.59 years and 10.5 years, respectively. A homozygous deletion was identified in the NPHP1 gene spanning at least from exon 5 to exon 20 in two families. High-throughput mutation analysis identified a homozygous truncating mutation (c.1504C>T, p.R502*) in the NPHP5 in 5 families. CONCLUSIONS: By combining NPHP1 deletion analysis with multiplex-polymerase-chain-reaction-based high-throughput mutation analysis we could identify the molecular disease-cause in 7 of 15 families from Iran. In 8 families, the molecular disease cause remained unknown.

Effect of vitamin C on endothelial function of children with chronic renal failure: An experimental study.

BACKGROUND: It is well established that improvement of endothelial dysfunction (ED) could prevent or delay the occurrence of cardiovascular disease (CVD) and its related morbidity and mortality in patients with chronic kidney disease (CKD). In this study we investigated whether administration of vitamin C could be effective by improving brachial artery flow-mediated dilation (FMD) and intima media thickness (IMT), two surrogate markers of ED, in children with CKD or chronic renal failure (CRF). MATERIALS AND METHODS: In this analytic-experimental study children aged 3-18 years with a diagnosis of CRF and a group of healthy children were enrolled. Vitamin C (250 mg/day) administrated for the two studied groups for 1 month. Endothelial function was evaluated by FMD and IMT measurement using vascular Doppler ultrasonography, before and after trial. RESULTS: In this study 18 patients with CRF and 19 normal children as the control group were studied. At baseline mean of IMT and FMD was not different in the two studied groups (P > 0.05). After vitamin C administration IMT decreased significantly in the two studied groups (P < 0.05). FMD increased in the two studied groups but the difference was significant in the control group (P < 0.05). CONCLUSION: The findings of this interventional trial have demonstrated that vitamin C could have protective effect on ED of patients with CRF possibly in those with severe form of the disease but for obtaining more conclusive results larger sample size is needed.

Effect of family empowerment model on quality of life in children with chronic kidney diseases.

BACKGROUND: Quality of life is a concept, which in recent years is considered as a measure for health in chronic diseases such as kidney diseases. Complications of chronic diseases can affect the quality of life in children and their families over time. Therefore, empowerment programs are necessary to improve their quality of life. This study aimed to investigate the impact of the family empowerment model on the quality of life in children with chronic kidney diseases. MATERIALS AND METHODS: This quasi-experimental study was conducted on 64 children with chronic kidney diseases and their families. The research tools included the questionnaire of demographic characteristics and the quality of life questionnaire 4(th) edition. After data collection in the first phase, the family empowerment model was implemented in the intervention group and the test was repeated after 1 month. For comparison of data between the two groups and within each group, independent t-test and paired t-test were used, respectively. RESULTS: Independent t-test showed that the mean score of quality of life was not significantly different in the two groups before intervention. However, after intervention, the differences were significant. Paired t-test showed a significant difference in the quality of life before and after intervention in the study group. CONCLUSIONS: The findings showed that family empowerment model was effective in increasing the quality of life of children with chronic kidney diseases. Thus, we suggest this model to be used in inpatient and outpatient children's health care.