Effect of exercise training on functional capacity, muscle strength, exercise capacity, dialysis efficacy and quality of life in children and adolescents with chronic kidney disease: a systematic review and meta-analysis.

Purpose: To synthesize the effect of exercise training on functional capacity, muscle strength, exercise capacity, dialysis efficacy, and quality of life (QOL) in children and adolescents with CKD.

Methods: PubMed/Medline, Scopus, PEDro, Web of Science, CINAHL, Cochrane, and Embase were searched from inception to September 30, 2023. Randomized control trials (RCTs) and clinical trials that assessed the effect of exercise training programs on functional capacity, muscle strength, exercise capacity, dialysis efficacy, and QOL in children and adolescents with CKD were included.

A Novel Mutation in the OXCT1 Gene Causing Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT) Deficiency Starting with Neurologic Manifestations.

Succinyl-CoA:3-oxoacid CoA-transferase (SCOT) deficiency is an inborn error of ketone body utilization characterized by intermittent ketoacidosis crises. This study reports the first Iranian patient with SCOT deficiency who presented with seizure and hypotonia at birth. Accordingly, she was consequently re-hospitalized due to hypotonia and respiratory distress.

A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations.

Introduction: Dent's disease is an X-linked inherited renal tubular disorder characterized by proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets, and end-stage renal disease. Almost 60% of patients have causative mutations in the CLCN5 gene (Dent 1), and 15% of affected individuals have mutations in the OCRL1 gene (Dent 2). The aims of this study are to identify CLCN5 mutations in Iranian families with Dent's disease and to characterize the associated clinical syndromes.

Early Postoperative Kidney Transplant Complications Related to Immunomodulator Regimen in Pediatric Recipients.

Objectives: Calcineurin inhibitors (cyclosporine and tacrolimus) are widely used in kidney transplant to prevent acute transplantrejection; however,the effects of these medications on graft sequelae after transplant remain unclear. We aimed to compare early complications, including graftrejectionandinfectionrates after kidney transplant, in childrenbetween the cyclosporine and tacrolimus immunomodulator regimens.

Materials And Methods: In this prospective cohort study, 105 pediatric patients who were candidates to receive kidney transplant in the age range of 4 to 18 years were included.

Gender determination in adults using calcaneal diameters from lateral foot X-ray images in the Iranian population.

Using morphologic features of the bones is the basis of gender determination in anthropology and forensic medicine. In this study, we evaluated the calcaneus diameters for gender determination in the Iranian population. This cross-sectional study was conducted on Iranians referring to Hazrat-e Rasool Hospital's radiology ward for plain lateral X-ray of the foot.

Whole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient.

Background: Nephronophthisis (NPHP) is a progressive tubulointestinal kidney condition that demonstrates an AR inheritance pattern. Up to now, more than 20 various genes have been detected for NPHP, with NPHP1 as the first one detected. X-prolyl aminopeptidase 3 (XPNPEP3) mutation is related to NPHP-like 1 nephropathy and late onset NPHP.

Molecular Genetic Analysis of Steroid Resistant Nephrotic Syndrome, Detection of a Novel Mutation.

Introduction: Nephrotic syndrome is a heterogeneous disease in children, with nearly 10% categorized as steroid-resistant. In this study we evaluated disease related mutations within NPHS1, NPHS2 and new potential variants in other genes.

Methods: In the first phase of study, 25 patients with SRNS were analyzed by Sanger sequencing for NPHS1 (exon 2, 26) and all exons of NPHS2 genes.

CTNS molecular genetics profile in a Persian nephropathic cystinosis population.

Purpose: In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1-17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia.

Methods: Cystinosis was primarily diagnosed by a pediatric nephrologist and then referred to the Iran University of Medical Sciences genetics clinic for consultation and molecular analysis, which involved polymerase chain reaction (PCR) amplification to determine the presence or absence of the 57-kb founder deletion in CTNS, followed by direct sequencing of the coding exons of CTNS.

A novel mutation pattern of kidney anion exchanger 1 gene in patients with distal renal tubular acidosis in Iran.

Introduction: 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.

Materials And Methods: 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.

Evaluation of complement regulatory components in patients with atypical hemolytic uremic syndrome.

Background: Atypical hemolytic uremic syndrome (aHUS), a rare disorder characterized by thrombocytopenia, microangiopathic hemolytic anemia, and acute renal failure, is associated with mutations and polymorphisms in various components and regulators of the complement alternative pathway (AP), including factor H, factor I, membrane cofactor protein (MCP or CD46) and factor B. This impaired regulation of the alternative pathway leads to a procoagulant state with microthrombi formation in the renal vasculature, which influences disease onset and progression.

Aim Of The Study: To evaluate the role of complement regulatory factors in occurrence of aHUS; we also included evaluation of ADAMTS13 activity and autoantibody against ADAMTS13 in order to exclude thrombotic thrombocytopenic purpura (TTP) cases, which might have overlapping clinical and laboratory findings.

Kidney transplantation before or after augmentation cystoplasty in children with high-pressure neurogenic bladder.

Objective: To compare the outcome and complications of augmentation cystoplasty before or after renal transplantation in children with neurogenic bladders, with those after kidney transplantation in children with normal bladders.

Patients And Methods: Augmentation cystoplasty preceded transplantation in 21 children (group 1) and after transplantation in 23 (group 2) operated from 1985 to 2006; these two groups were compared with a control group of 45 children with a normal bladder (group 3) who also received a transplant, for kidney function, episodes of urinary tract infection (UTI), surgical and medical complications.

Results: The mean age of the three groups was 12.

Kidney transplantation in children with augmentation cystoplasty.

Purpose: Treatment of children with end stage renal disease, especially those with significant bladder dysfunction, is difficult. A high pressure and low capacity bladder is a major risk factor for a transplanted kidney. Cystoplasty can protect the kidney allograft by reducing the intravesical pressure and creating an appropriate capacity.