BackgroundVesico‐ureteral reflux (VUR) is considered to be a risk factor for recurrent febrile ur... more BackgroundVesico‐ureteral reflux (VUR) is considered to be a risk factor for recurrent febrile urinary tract infections and impaired renal transplant survival.MethodsAn online survey supported by the European Society for Paediatric Nephrology was designed to evaluate current management strategies of VUR in native and transplanted kidneys of recipients aged <18 years.ResultsSeventy‐three pediatric transplant centers from 32 countries contributed to the survey. All centers performed urological evaluation prior to pediatric kidney transplantation (KTx) with subsequent interdisciplinary discussion. Screening for VUR in native kidneys (30% in all, 70% in selected patients) led to surgical intervention in 78% (11% in all, 89% in selected patients) with a decided preference of endoscopic intervention over ureterocystoneostomy. Following KTx, continuous antibiotic prophylaxis was applied in 65% of the patients and screening for allograft VUR performed in 93% of selected patients. The mai...
Chronic kidney diseases affect sex hormones, and thus it is now hypothesized abnormal puberty phe... more Chronic kidney diseases affect sex hormones, and thus it is now hypothesized abnormal puberty phenomenon in adolescents suffering renal failure. The primary study endpoint was to assess the frequency of disorders related to the clinical incidence of puberty symptoms among children suffering chronic kidney disease, and the secondary endpoint was also to assess the relationship between such manifestations and the serum level of sexual hormones. This cross-sectional study was performed on children with chronic renal failure (more than three months after the onset of the disease). Al baseline characteristics were retrospectively extracted from the hospital recorded files. The pieces of evidence of anemia and acidosis also appeared more in those with delayed puberty. Comparing the groups with delayed puberty and normal puberty showed significantly lower mean body weight and lower mean height in the group with delayed puberty as compared to those with normal status. Comparing serum hormon...
Paraneoplastic syndromes result from secretion of hormones, peptides or cytokines by tumor or imm... more Paraneoplastic syndromes result from secretion of hormones, peptides or cytokines by tumor or immune cross-reactivity between malignant and normal tissues. These conditions are rare in children, but when the clinical presentation of patients with a tumor is unusual, these syndromes should be emphasized. Extrarenal tumors with renin-secretion are rare in children. They may be related to paraneoplastic syndromes. We report a 22-month-old infant with hepatoblastoma presented with severe hypertension and related neurologic symptoms due to high plasma renin activity. To the best of our knowledge, this is the second report of renin producing hepatoblastoma in the literature. However, due to lack of laboratory facilities such as immunohistochemical study or polyclonal antibody for human renin activity, we could not prove the secretion of renin just by tumor tissue cells, but this potentiality is very likely. Other intensive investigations did not show any other origin for rennin secretion ...
A b s t r a c t: Urodynamic study (UDS) is a serial of clinical tests, like uroflowmetry, filling... more A b s t r a c t: Urodynamic study (UDS) is a serial of clinical tests, like uroflowmetry, filling cystometry, pressure-flow studies and assessment of urethral closure pressure. These tests include urethral pressure profilometry and also measurement of the leak-point pressure of lower urinary system. UDS is one of the essential clinical studies in children complaining of voiding dysfunction, neurogenic bladder, urine incontinence, enuresis and another lower urinary tract symptom. The aim of proper bladder management in these patients is to maintain the lower urinary tract to have good capacity, low pressure, preventing infection and incontinence. Long term goal is preventing any undue damage to the upper urinary tracts and intact kidneys function. This review article of pediatric urodynamic study provides a classified diagnostic approach to bladder dysfunctions in children.
Mutations of the anion exchanger 1 (AE1) gene encoding the kidney anion exchanger 1 can result in... more Mutations of the anion exchanger 1 (AE1) gene encoding the kidney anion exchanger 1 can result in autosomal dominant or autosomal recessive form of distal renal tubular acidosis (DRTA). This study aimed to report deletion mutations of the AE1 and its impact on Iranian children with DRTA. Twelve children with DRTA referred to Ali Asghar Children Hospital were investigated for all AE1 gene exons through polymerase chain reaction amplification, DNA sequencing, and bioinformatics analysis. Eleven of 12 patients (91.7%) showed an alteration in AE1 gene with a real hot spot in its exons 11 or 15. Homozygote and heterozygote deletions were confirmed in exon 15 in 5 (41.7%) and 3 (25.0%), respectively. Two patients (16.7%) showed homozygote deletions in exon 11 of AE1 gene, and 1 patient (8.3%) showed point mutation in exon 11. The 3-dimensional structures of the native and these mutant kidney AE1 proteins were determined by the multitemplate method using the Phyre and Hidden Markov Model a...
ABSTRACTBackground: Nephrotic syndrome is one of the most common kidney diseases in childhood. Ab... more ABSTRACTBackground: Nephrotic syndrome is one of the most common kidney diseases in childhood. About 20% of children are steroid-resistant NS (SRNS) which progress to end-stage renal disease (ESRD). More than 53 genes are associated with SRNS which represent the genetic heterogeneity of SRNS. This study was aimed to screen disease causing mutations within NPHS1 and NPHS2 and evaluate new potential variants in other genes.Method: In first phase of study, 25 patients with SRNS were analyzed for NPHS1 (exon 2, 26) and all exons of NPHS2 genes by Sanger sequencing. In the second phase, whole exome sequencing was performed on 10 patients with no mutations in NPHS1 and NPHS2.Result: WES analysis revealed a novel mutation in FAT1 (c.10570C>A; Q3524K). We identified 4 pathogenic mutations, located in exon 4 and 5 of NPHS2 gene in 20% of patients (V180M, P118L, R168C and Leu156Phe). Also our study has contributed to the descriptions of previously known pathogenic mutations across WT1 (R20...
BackgroundVesico‐ureteral reflux (VUR) is considered to be a risk factor for recurrent febrile ur... more BackgroundVesico‐ureteral reflux (VUR) is considered to be a risk factor for recurrent febrile urinary tract infections and impaired renal transplant survival.MethodsAn online survey supported by the European Society for Paediatric Nephrology was designed to evaluate current management strategies of VUR in native and transplanted kidneys of recipients aged <18 years.ResultsSeventy‐three pediatric transplant centers from 32 countries contributed to the survey. All centers performed urological evaluation prior to pediatric kidney transplantation (KTx) with subsequent interdisciplinary discussion. Screening for VUR in native kidneys (30% in all, 70% in selected patients) led to surgical intervention in 78% (11% in all, 89% in selected patients) with a decided preference of endoscopic intervention over ureterocystoneostomy. Following KTx, continuous antibiotic prophylaxis was applied in 65% of the patients and screening for allograft VUR performed in 93% of selected patients. The mai...
Chronic kidney diseases affect sex hormones, and thus it is now hypothesized abnormal puberty phe... more Chronic kidney diseases affect sex hormones, and thus it is now hypothesized abnormal puberty phenomenon in adolescents suffering renal failure. The primary study endpoint was to assess the frequency of disorders related to the clinical incidence of puberty symptoms among children suffering chronic kidney disease, and the secondary endpoint was also to assess the relationship between such manifestations and the serum level of sexual hormones. This cross-sectional study was performed on children with chronic renal failure (more than three months after the onset of the disease). Al baseline characteristics were retrospectively extracted from the hospital recorded files. The pieces of evidence of anemia and acidosis also appeared more in those with delayed puberty. Comparing the groups with delayed puberty and normal puberty showed significantly lower mean body weight and lower mean height in the group with delayed puberty as compared to those with normal status. Comparing serum hormon...
Paraneoplastic syndromes result from secretion of hormones, peptides or cytokines by tumor or imm... more Paraneoplastic syndromes result from secretion of hormones, peptides or cytokines by tumor or immune cross-reactivity between malignant and normal tissues. These conditions are rare in children, but when the clinical presentation of patients with a tumor is unusual, these syndromes should be emphasized. Extrarenal tumors with renin-secretion are rare in children. They may be related to paraneoplastic syndromes. We report a 22-month-old infant with hepatoblastoma presented with severe hypertension and related neurologic symptoms due to high plasma renin activity. To the best of our knowledge, this is the second report of renin producing hepatoblastoma in the literature. However, due to lack of laboratory facilities such as immunohistochemical study or polyclonal antibody for human renin activity, we could not prove the secretion of renin just by tumor tissue cells, but this potentiality is very likely. Other intensive investigations did not show any other origin for rennin secretion ...
A b s t r a c t: Urodynamic study (UDS) is a serial of clinical tests, like uroflowmetry, filling... more A b s t r a c t: Urodynamic study (UDS) is a serial of clinical tests, like uroflowmetry, filling cystometry, pressure-flow studies and assessment of urethral closure pressure. These tests include urethral pressure profilometry and also measurement of the leak-point pressure of lower urinary system. UDS is one of the essential clinical studies in children complaining of voiding dysfunction, neurogenic bladder, urine incontinence, enuresis and another lower urinary tract symptom. The aim of proper bladder management in these patients is to maintain the lower urinary tract to have good capacity, low pressure, preventing infection and incontinence. Long term goal is preventing any undue damage to the upper urinary tracts and intact kidneys function. This review article of pediatric urodynamic study provides a classified diagnostic approach to bladder dysfunctions in children.
Mutations of the anion exchanger 1 (AE1) gene encoding the kidney anion exchanger 1 can result in... more Mutations of the anion exchanger 1 (AE1) gene encoding the kidney anion exchanger 1 can result in autosomal dominant or autosomal recessive form of distal renal tubular acidosis (DRTA). This study aimed to report deletion mutations of the AE1 and its impact on Iranian children with DRTA. Twelve children with DRTA referred to Ali Asghar Children Hospital were investigated for all AE1 gene exons through polymerase chain reaction amplification, DNA sequencing, and bioinformatics analysis. Eleven of 12 patients (91.7%) showed an alteration in AE1 gene with a real hot spot in its exons 11 or 15. Homozygote and heterozygote deletions were confirmed in exon 15 in 5 (41.7%) and 3 (25.0%), respectively. Two patients (16.7%) showed homozygote deletions in exon 11 of AE1 gene, and 1 patient (8.3%) showed point mutation in exon 11. The 3-dimensional structures of the native and these mutant kidney AE1 proteins were determined by the multitemplate method using the Phyre and Hidden Markov Model a...
ABSTRACTBackground: Nephrotic syndrome is one of the most common kidney diseases in childhood. Ab... more ABSTRACTBackground: Nephrotic syndrome is one of the most common kidney diseases in childhood. About 20% of children are steroid-resistant NS (SRNS) which progress to end-stage renal disease (ESRD). More than 53 genes are associated with SRNS which represent the genetic heterogeneity of SRNS. This study was aimed to screen disease causing mutations within NPHS1 and NPHS2 and evaluate new potential variants in other genes.Method: In first phase of study, 25 patients with SRNS were analyzed for NPHS1 (exon 2, 26) and all exons of NPHS2 genes by Sanger sequencing. In the second phase, whole exome sequencing was performed on 10 patients with no mutations in NPHS1 and NPHS2.Result: WES analysis revealed a novel mutation in FAT1 (c.10570C>A; Q3524K). We identified 4 pathogenic mutations, located in exon 4 and 5 of NPHS2 gene in 20% of patients (V180M, P118L, R168C and Leu156Phe). Also our study has contributed to the descriptions of previously known pathogenic mutations across WT1 (R20...
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