Search

Sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) or nephrotic syndrome type-14 is caused by biallelic mutations in SGPL1. Here, we conducted a systematic review to delineate the characteristics of SPLIS patients.A literature search was performed in PubMed, Web of Science, and Scopus databases, and eligible studies were included. For all patients, demographic, clinical, laboratory, and molecular data were collected and analyzed.Fifty-five SPLIS patients (54.9% male, 45.1% female) were identified in 19 articles. Parental consanguinity and positive family history were reported in 70.9% and 52.7% of patients, respectively. Most patients (54.9%) primarily manifested within the first year of life, nearly half of whom survived, while all patients with a prenatal diagnosis of SPLIS (27.5%) died at a median [interquartile (IQR)] age of 2 (1.4-5.3) months (P = 0.003). The most prevalent clinical feature was endocrinopathies, including primary adrenal insufficiency (PAI) (71.2%) and hypothyroidism (32.7%). Kidney disorders (42, 80.8%) were mainly in the form of steroid-resistant nephrotic syndrome (SRNS) and progressed to end-stage kidney disease (ESKD) in 19 (36.5%) patients at a median (IQR) age of 6 (1.4-42.6) months. Among 30 different mutations in SGPL1, the most common was c.665G A (p.Arg222Gln) in 11 (20%) patients. Twenty-six (49.1%) patients with available outcome were deceased at a median (IQR) age of 5 (1.5-30.5) months, mostly following ESKD (23%) or sepsis/septic shock (23%).In patients with PAI and/or SRNS, SGPL1 should be added to diagnostic genetic panels, which can provide an earlier diagnosis of SPLIS and prevention of ESKD and other life-threatening complications.

The thromboembolism (TE) as a complication of nephrotic syndrome (NS) is rare and serious and may involve renal, cerebral, pulmonary, or peripheral venous and/or arterial thrombosis. Here, we describe a 4.5-year-old male with a history of nephrotic syndrome, who developed a hemorrhagic stroke in the territory of middle cerebral artery.

Multiple inflammatory syndrome in children (MIS-C) is a multisystem inflammatory disease following COVID-19 in children. This disease occurs a few weeks after COVID-19. A child with this condition develops a cytokine release cascade that results in organ damage. The involved organs include the heart, lungs, brain, gastrointestinal tract, and central nervous system. Fever is present in all patients and Kawasaki-like symptoms are one of the common features in these children. In this article, we introduce a child with MIS-C who has skin, gastrointestinal, neurological, and renal symptoms and has been hospitalized in the PICU.

Background:Renal disorders are reported as both underlying conditions and complications in critical pediatric COVID-19 infection. Herein, we investigated the pattern of renal involvement, particularly acute kidney injury (AKI), among pediatric patients with COVID-19.MethodsWe prospectively enrolled hospitalized pediatric patients with the clinical diagnosis of COVID-19 infection. Demographic, clinical, and laboratory findings were gathered and analyzed, using a mixed method of qualitative and quantitative approaches and descriptive statistics.Results187 patients including 120 (64.2%) male and 67 (35.8%) female with COVID-19 infection at a median (interquartile range) of 60 (24-114) months were enrolled in this study.Most patients (n=108, 58.1%) were suffered from one or two underlying comorbidities, mainly malnutrition (77.4%), neurologic/learning disorders (21.4%) and malignancy (10.2%). Kidney was the third organ involved in 30 patients (16%) during hospital admission, after lung (53.5%) and gastrointestinal tract (39%). According to the KDIGO definition and classification, AKI was detected in 38.5% of patients (stage 1: 55.6%, stage 2: 36.1%, stage 3: 8.3%) at presentation or during follow up. Nine patients (4.8%) required hemodialysis and 16 (8.6%) patients were eventually died. There was no significant association between AKI and pediatric intensive care unit (PICU) admission (p=0.079), multisystem inflammatory syndrome in children (MIS-C) (p=0.051), comorbidities (p=0.067), and mortality rate (p=0.789).ConclusionsKidneys are one of the major organs affected by COVID-19 infection. Although kidney abnormalities resolve in the majority of pediatric COVID-19 infection, particular attention should be given to kidney involvement in COVID-19 patients, particularly children with history of malnutrition and renal disorders.

Background: Information about renal involvement in pediatric patients with COVID-19 is limited, and there is not enough data about renal and urinary tract involvement in children infected with this novel virus. Objectives: This study aimed to determine the spectrum of kidney diseases in pediatric patients with COVID-19, admitted to a tertiary children’s hospital. Methods: This cross-sectional study was conducted on 71 pediatric patients with COVID-19 infection. Diagnosis of COVID-19 was established based on the guidelines by the Iranian Ministry of Health. The patients’ demographic characteristics, clinical symptoms, laboratory results, and renal ultrasonography findings were extracted from the hospital medical records. Results: On admission, 10% of patients had oliguria, 7.7% had edema, and 3% had hypertension. The first urinalysis indicated proteinuria, leukocyturia, and hematuria in 46%, 24%, and 23% of the patients, respectively. Overall, 40.7% of the patients showed some degree of renal involvement. During hospitalization, acute kidney injury (AKI) occurred in 34.5% of the patients. Based on the pediatric risk, injury, failure, loss of kidney function, and end-stage kidney disease (pRIFLE) classification, stage I (risk group) was found in 20% of patients, stage II (injury group) in 25% of patients, and stage III (failure group) in 55% of patients with AKI. The total mortality rate was estimated at 12.67%, and the incidence of in-hospital death was 30% in pediatric patients with severe COVID-19 infection associated with AKI. Conclusions: The prevalence of AKI was high in patients with COVID-19 infection hospitalized in our tertiary hospital. We also found that a decrease in renal function was associated with a higher risk of mortality. Overall, early detection of AKI and effective treatment may help reduce mortality in patients with COVID-19.

Background: Nephrocalcinosis to the presence of calcium salts within renal tissue. Infants and children are more likely to have an underlying etiology for nephrocalcinosis including inherited errors of metabolism, anatomic abnormalities of the urinary tract, renal disorders, vitamin D excess, medication and prematurity. The body growth and renal function have rarely been investigated concerning children with nephrocalcinosis (NC). Objectives: This study aimed to evaluate effect of NC on growth index and kidney function of patients according to its cause. Methods: This study was conducted on twenty-eight now 2-27-year-old patients with NC who were admitted or referred to Loghman Hakim Hospital within 2006 and 2013. The patients’ data were recorded in terms of age, gender, NC etiology, clinical presentation, GFR, standard deviation scores of height and weight, and follow-up period. Data was imported to the SPSS software version 18 and analyzed using statistical tests. Results: Mean age of the participants was 2.5 ± 2.2, ranging from 0.1 to 9.7 years. Fourteen (47%) patients were male. Mean follow-up time period was 7.1 ± 5.2, ranging from 1.0 to 20.9 years. The most common clinical presentations leading to the NC diagnosis were urinary tract infection (25%) and growth retardation among 18% of the patients. The NC was rooted in distal renal tubular acidosis (dRTA) regarding 34.5% of the subjects, idiopathic hypercalciuria (IHC) in terms of 17.2% participants, Bartter syndrome in 10.3% and other different factors in 31.1% of the participants and cause of the NC was unknown in 6.9% of the subjects. Mean glomerular filtration rate (GFR) was 75.6 ± 29.1 in presentation and 105.7 ± 21.9 ml/min/1.73m2 in follow-up (P < 0.001). There was no significant decrease in height and weight SDS from the first to last observation. Also, a significant increase of BMI was observed from first to last observation. Conclusions: Findings revealed that nephrocalcinosis has no significant effect on growth index and glomerular filtration within a long term and its impact depends on the underlying causes.

The urine samples were transferred to theMicrobiology and Infectious Diseases ResearchCenter in a cooler with ice-packs. All samples weredirectly cultured into 7% sheep blood agar (Merck,Darmstadt, Germany) and incubated aerobically at37°C for 48 h. After incubation, suspicious colonieswere examined by the use of morphologiescompatible with

Introduction. Vesicoureteral reflux (VUR) is the most common pediatric urologic abnormality and since it can predispose to urinary tract infection and resultant kidney scar it is an important issue in pediatric nephrourology. Methods. A retrospective chart review and follow-up of 958 patients with primary VUR was performed in the Children’s Medical Center, Tehran, Iran. Children with primary vesicoureteral reflux were included in the study and these parameters were studied: age, sex, clinical presentation, VUR grade, sonographic findings, DMSA changes, treatment modality (medical, surgical or endoscopic) and response to treatment, hypertension (presence/absence), urinary tract infection recurrence and development of new kidney scars in patients under medical treatment. Results. VUR was more prevalent in girls. Sonography was unable to detect VUR in many cases. Presence of renal scars was strongly associated with degree of reflux. Medical management was effective in a substantial percentage of patients and they experienced full resolution of reflux. This was especially true for lower degrees of VUR. 17.6% of patients developed new kidney scars on followup which was associated with higher degrees of VUR. Hypertension and breakthrough urinary tract infection was an uncommon finding in our patients. Conclusion. Medical management, which means using prophylactic antibiotics for prevention of urinary tract infection, is effective in many cases of VUR especially in cases with lower degrees of VUR. Surgical and endoscopic procedures must be reserved for patients with higher degrees of VUR unresponsive to conservative management or in whom new scars may develop.

Purpose : Hepatitis B virus (HBV) vaccination is recommended for all human immunodeficiency virus (HIV)-infected patients without HBV immunity. However, serological response to standard HBV vaccination is frequently suboptimal in this population and the appropriate strategy for revaccination of HIV-infected nonresponders remained controversial. We aimed to determine the serological response to one booster dose of HBV vaccine given by intradermal (ID) or intramuscular (IM) route in HIV-positive nonresponders to standard HBV vaccination. Materials and Methods : In this study, 42 HIV-infected nonresponders were enrolled. We randomized them to receive either 10 μg (0.5 mL) for ID (20 cases) or 20 μg (1 mL) for IM (22 cases) administration of HBV vaccine as a one booster dose. After 1 month, anti-HBs titer was checked in all cases. A protective antibody response (seroconversion) defined as an anti-HBs titer ≥10 IU/L. Results: Seroconversion was observed in 47.6% of subjects after 1 ID dose. A total of 30% showed antibody titers above 100 IU/L. Except one case, all responders had CD4 + >200 cells/mm 3 . Mean anti-HBs titer was 146.5 ± 246 IU/L. After the one IM booster dose, seroconversion was observed in 50% of cases. A total of 36.3% of subjects had anti-HBs ≥100 IU/L. All responders had CD4 + >200 cells/mm 3 , except one case. Mean anti-HBs titer was 416.4 ± 765.6 IU/L. Responders showed significantly higher CD4 + cell counts, in comparison to nonresponders (P < 0.001). Conclusions: One booster dose administered IM or ID to HIV-infected nonresponders resulted in similar rates of seroconversion, overall response rate 50%. However, higher anti-HBs titers observed more frequently in IM group.

Introduction Renal vein entrapment, named nutcracker phenomenon, is a contraction of renal vein between abdominal aorta and superior mesenteric artery. Patients can be asymptomatic or clinically manifested, called nutcracker syndrome. Proteinuria, hematuria, flank pain, varicocele in males and pelvic congestion in females are reported in such patients. Case Presentation The current report presented an eight-year-old girl with microscopic hematuria and chronic abdominal pain along with short review of anatomy, pathophysiology, clinical significance and management of this syndrome. Conclusions The nutcracker syndrome should be differentiated from unexplained chronic abdominal pain.

A potential problem of hepatitis B immunization is that vaccine-induced antibody to hepatitis B surface antigen (anti-HBs) declines to low levels with age. This study investigated the persistence of anti-HBs in vaccinated children in a low hepatitis B virus (HBV) endemic area. Plasma samples of 938 children between ages of 8 months and 15 years were tested for the presence of anti-HBs. The seroprotection rate was 60%. Protective antibody level was detected in 65% of children one year after vaccination, and in 30%, 29% and 24% 5, 10 and 15 years after vaccination, respectively. The mean anti-HBs titer declined with post-vaccination time (to 66 mIU/mL in 1 year, 60 mIU/mL in 5 years, 40 mIU/mL in 10 years to 37 mIU/mL in 15 years after vaccination). Children vaccinated against HBV during infancy may show low levels of antibody during adolescence. Our data suggest that a booster dose of vaccine may be required in low HBV endemic areas.

Generalized joint hypermobility is deemed to be an underlying risk factor for many clinical conditions. The goal of this study was to determine the prevalence of generalized joint hypermobility in patients with vesicoureteral reflux.This was a cross-sectional study on 313 children, 3 to 15 years old, with a history of urinary tract infection. Generalized joint hypermobility was evaluated according to the Beighton scores. Urinary tract ultrasonography and cystography were done if indicated. Participants were divided into 2 groups, group 1 without urinary tract abnormality and group 2 with primary vesicoureteral reflux, which were compared with the control group.Generalized joint hypermobility was documented in 37.2% of the children in the control group and 45.7% of those in group 1. This rate was 62.3% in group 2 (odds ratio, 2.79; 95% confidence interval, 1.61 to 4.82). Generalized joint hypermobility was seen in 44.1% of the children with mild vesicoureteral reflux, 60.5% of those with moderate vesicoureteral reflux, and 86.2% of those with severe vesicoureteral reflux. There was a significant relationship between the hypermobility incidence and the urinary reflux severity (P = .003).This study showed the prevalence of generalized joint hypermobility in children with vesicoureteral reflux was more than that in the general population, and the prevalence of hypermobility syndrome increased with the reflux severity.

Background: Brucellosis is a world-wide disease, which has a diverse clinical manifestation, and its diagnosis has to be proven by laboratory data. Serum agglutination test (SAT) is the most-widely used test for diagnosing brucellosis. The enzyme linked immunosorbent assay (ELISA) can also determine specific antibody classes against brucella. It is a sensitive, simple and rapid test, which could be an acceptable alternative to SAT with fewer limitations, however, like any other new test it should be further evaluated and standardized for various populations. This study was planned to determine an optimal cut-off point, for ELISA which would offer maximum sensitivity and specificity for the test when compared to SAT. Methods: Four hundred and seven patients with fever and other compatible symptoms of brucellosis were enrolled in the study. Serum agglutination test, 2-Mercaptoethanol test, and ELISA were performed on their sera. Results: The cut-off point of 53 IU/ml of ELISA-IgG yielded the maximal sensitivity and specificity comparing to the other levels of ELISA-IgG, and was considered the best cut off-point of ELISA-IgG to diagnose acute brucellosis. At this cut-off, the sensitivity, specificity, positive predictive value, negative predictive value, positive likelihood ratio, and negative likelihood ratio were 84.09%, 85.38%, 62.20, 94.90, 5.75, 0.18, respectively. Conclusion: The best cut-off point of ELISA-IgG is 53 IU/ml, which yields the maximal sensitivity and specificity to diagnose acute brucellosis.