Nephrotic syndrome: Pretibial epidermolysis bullosa in a patient with CD151 tetraspanin defect: A case report.

Nephrotic syndrome (NS)-epidermolysis bullosa (EB) sensorineural deafness syndrome is an autosomal recessive rare genetic disease caused by a CD151 gene homozygous mutation on chromosome 11p15.5. In this report, we discuss a rare case related to a Saudi patient with genetic syndrome who presented with NS and EB. Whole genome sequencing results indicated a homozygous pathogenic variant identified in the CD151 gene (c.493C>T p.(Arg165*), which was consistent with a genetic diagnosis of autosomal recessive nephropathy with pretibial EB and deafness syndrome. The findings emphasize that even a single genotype can result in variable phenotypic expression, necessitating the assessment of the pleiotropic effects of the disease on the patient, which can range from severe to mild. This case report adds to the literature by highlighting the considerable phenotypic variation that can be present in patients with the CD151 mutation.

Insight into prevalence, etiology, and modalities of pediatric chronic dialysis: a comprehensive nationwide analysis.

BACKGROUND: This study aimed to determine the prevalence and etiology of kidney failure (KF) among children below 15 years of age receiving chronic dialysis in Saudi Arabia and describe their dialysis modalities. METHODS: This cross-sectional descriptive study was conducted on 8 August 2022, encompassing all 23 pediatric dialysis centers in Saudi Arabia. Data gathered comprised patient demographics, causes of KF, and the dialysis methods employed. Collected data underwent analysis to determine prevalence of children undergoing chronic dialysis, discern underlying causes of KF, and evaluate distribution of patients across different dialysis modalities. RESULTS: The prevalence of children on chronic dialysis is 77.6 per million children living in Saudi Arabia, equating to 419 children. The predominant underlying cause of KF was congenital anomalies of the kidneys and urinary tract (CAKUT), representing a substantial 41% of cases. Following this, others or unknown etiologies accounted for a noteworthy 25% of cases, with focal segmental glomerulosclerosis (FSGS) comprising 13%, glomerulonephritis at 11%, and congenital nephrotic syndrome contributing 10% to etiological distribution. Regarding dialysis modalities employed, 67% of patients were on peritoneal dialysis (PD), while the remaining 33% were on hemodialysis (HD). CONCLUSIONS: This first nationwide study of pediatric chronic dialysis in Saudi Arabia sheds light on the prevalence of children undergoing chronic dialysis and underlying causes of their KF, thereby contributing to our understanding of clinical management considerations. This research serves as a stepping stone for the development of national registries.

Acute Kidney Injury Secondary to Rhabdomyolysis: A Case of Child Physical Abuse.

Child abuse is a challenging problem that any healthcare worker might encounter. It can lead to multiple physical and psychological effects on the child. We report a case of an eight-year-old boy who presented to the emergency department with history of decreased level of consciousness and change in urine color. On examination, he was found to be jaundiced, pale, and hypertensive (160/90 mmHg) with multiple skin abrasions all over the body, suggestive of physical abuse. Laboratory investigations were consistent with acute kidney injury and significant muscle damage. The patient was admitted to intensive care unit (ICU) as a case of acute renal failure secondary to rhabdomyolysis, and subsequently required temporary hemodialysis during his stay in the ICU. The child protective team was involved in the case throughout his hospital admission. Rhabdomyolysis with acute kidney injury secondary to child abuse is an unusual presentation in children, and reporting such cases may lead to early diagnosis and initiation of prompt interventions.

Tuberculous Peritonitis in a Peritoneal Dialysis Paediatric Patient: A Case Report.

Mycobacterium tuberculosis is known to cause infection primarily in the lungs, which may spread to other parts of the body causing extrapulmonary tuberculosis. Few studies in the literature identify M. tuberculosis as a cause of peritoneal dialysis (PD)-associated peritonitis among paediatric patients who have no history of pulmonary tuberculosis. PD is the most used renal replacement therapy for paediatric patients with end-stage renal disease. However, despite continuous improvements in the PD connecting system, peritonitis remains the Achilles' heel of dialysis procedures and prophylaxis for PD. Here, we report a case of M. tuberculosis peritonitis in a paediatric patient receiving PD and the infection was managed successfully with appropriate anti-tuberculous treatment. This case emphasises the importance of considering tuberculous peritonitis in PD paediatrics patients who have no history of pulmonary tuberculosis and whose PD routine cultures produce negative results.

A Retrospective Analysis of Peritoneal Dialysis-associated Peritonitis at a Single-care Children's Hospital in Saudi Arabia.

Peritoneal dialysis (PD) may lead to infection, which could cause dialysis failure. Estimates of infectious peritonitis rate, identification of causative microbes, and infection outcomes are scarcely reported in Saudi Arabia. We conducted this study to provide epidemiological data as a geographical reference for PD-associated peritonitis. Epidemiological, microbiological, and clinical data were retrospectively collected from pediatric patients' medical records who were on PD between 2009 and 2018. A total of 54 pediatric patients on PD were involved in the study. The median age of the patients was 3.6 years [interquartile range (IQR) 1.7-8.0]; 56% were female children. The median time spent on PD was 39.5 months (IQR 19.75-64.25), with an overall peritonitis rate of 0.52 episodes per patient-year. In terms of infection, 116 PD-associated peritonitis episodes were identified in 37 patients. There were 38 infection episodes (32.3%) due to skin microbiota, 22 (18.8%) of gut microbiota, 12 (10.2%) of environmental microbiota, three (2.6%) of polymicrobial, and 27 (23.2%) of culture negative peritonitis. There were 45 (39%) episodes of noncomplicated peritonitis and 71 (61%) complicated peritonitis episodes. The latter included 14 (19%) relapses, 45 (63%) repeated infections, and 12 (17%) catheter removals. Using multivariate analysis, the history of peritonitis [OD 7.59, 95% confidence interval (CI) 2.87-20.00] and the presence of cardiovascular disease (OD 3.24,95% CI 1.18-8.85) were independent predictors of a complicated peritonitis episode. History of infectious peritonitis and the presence of cardiovascular disease are potential predictors of complicated PD-associated peritonitis and may provide an identifier of high-risk patients.

The Frequency of Genetic Mutations in Pediatric Patients Diagnosed with Nephrotic Syndrome: A Single-Center Retrospective Study in Saudi Arabia.

Limited data are available on the common genetic mutations causing nephrotic syndrome (NS) in the Saudi pediatric population. We therefore conducted this study to estimate the frequency of genetic mutations in pediatric patients diagnosed with NS. We conducted this retrospective cross-sectional study at a single center in Riyadh, Saudi Arabia. The data of pediatric patients diagnosed with NS from 2015 to 2019 were reviewed. Percentages were calculated for categorical variables such as gender and mutant gene. We identified a total of 206 patients diagnosed with NS during the study. Molecular genetic profiling was performed only for 35 patients who met the inclusion criteria. Female patients represented 42.8% of all cases (n = 15). The median age of the patients at diagnosis was 36 months (interquartile range 12-72). Associated anomalies were recognized in 37.14% of the patients (n = 13). Out of the 35 patients, 19 had positive molecular genetic results. Consanguinity was present in 18 (51.42%) of these patients. The most common homozygous mutation detected was PLCE1 (42.1%; n = 8), followed by NPHS1 (26.32%; n = 5). Heterozygous mutations were detected in three children (15.8%). Complement factor B and WT1 mutations accounted for one patient each and both COL4A5 and INF2 mutations were reported in a single child. Two mutant genes of unknown zygosity - CD151 and COL4A3 were also identified. PLCE1 is a major underlying cause of NS. PLCE1 may cause diffuse mesangial sclerosis in the kidney with early-onset NS and a poor prognosis.