Are Neutrophil to Lymphocyte Ratio (NLR) and Platelet to Lymphocyte Ratio (PLR) Predictors of Steroid Therapy in Children with Nephrotic Syndrome?

Background: Nephrotic syndrome (NS) is the most common pediatric chronic kidney disease characterized by massive proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Corticosteroids, as the mainstay of treatment, resolve symptoms in most patients. However, some patients experience a relapsing-remitting course. Currently, there is no specific biomarker for the prediction of steroid response in patients with NS. The neutrophil/lymphocyte ratio (NLR) and platelet/lymphocyte ratio (PLR) are inexpensive, readily accessible parameters that are proved to be related to the inflammatory state in many disorders.Method: We evaluated NLR and PLR ratios before and after steroid therapy in 50 pediatric patients with NS in a single pediatric referral center. Data analysis was carried out using SPSS software and the significance level was considered as 0.05.Results: Medical response to steroid was compatible with steroid-dependent (SD) nephrotic syndrome (NS) in 30% (n=15), steroid-resistant (SR) NS in 12% (n=6), steroid-sensitive (SS) NS in 36% (n=18), and frequently relapsing (FR) NS in 22% (n=11). Fourteen patients (29.2%) did not experience recurrence. Before and after steroid therapy, the mean PLRs were 10.9 and 11.7 and the mean NLRs were 1.9 and 2.2, respectively, which were not statistically different (P>0.05).Conclusion: We do not recommend NLR and PLR as predictors of steroid response in pediatric patients with NS

Pulmonary manifestations in a cohort of patients with inborn errors of immunity : an 8-year follow-up study

Background: Inborn errors of immunity (IEIs) are a group of congenital diseases caused by genetic defects in the development and function of the immune system. The involvement of the respiratory tract is one of the most common presentations in IEIs. Methods: Overall, 117 patients with diagnosed IEIs were followed-up within 8 years at the National Research Institute of Tuberculosis and Lung Diseases (NRITLD). Demographic, clinical, and laboratory data were collected in a questionnaire. Pulmonary function test (PFT), chest X-ray (CXR), and high-resolution computed tomography (HRCT) scans were obtained where applicable. Results: Our study population consisted of 48 (41%) patients with predominantly antibody deficiencies (PADs), 39 (32%) patients with congenital defects of phagocytes, 14 (11.9%) patients with combined immunodeficiency (CID), and 16 (14%) patients with Mendelian susceptibility to mycobacterial diseases (MSMD).. Recurrent pneumonia was the most common manifestation, while productive cough appeared to be the most common symptom in almost all diseases. PFT showed an obstructive pattern in patients with PAD, a restrictive pattern in patients with CID, and a mixed pattern in patients with CGD. HRCT findings were consistent with bronchiectasis in most PAD patients, whereas consolidation and mediastinal lesions were more common in the other groups. Conclusions: Pulmonary manifestations vary among different groups of IEIs. The screening for lung complications should be performed regularly to reveal respiratory pathologies in early stages and follow-up on already existing abnormalities. (C) 2022 Codon Publications. Published by Codon Publications.Peer reviewe

Bartter Syndrome Type 4a in an Adolescent With Lower Extremity Pain: A Case Report: Bartter Syndrome and Lower Extremity Pain

Bartter syndrome is a rare genetic disease with 5 subtypes. In Bartter syndrome type 4,patients suffer from deafness and renal dysfunction since infancy. In this report, we introduceda 16-year-old girl with congenital deafness without any previous renal complaints referred toour center due to ankle pain

A 17 year-old Boy with Urinary Retention: urinary retention

a 12-year old boy with urinary retentio

Skin manifestations in children with inborn errors of immunity in a tertiary care hospital in Iran

Abstract Objectives Inborn errors of immunity (IEIs) are monogenic diseases of the immune system. Despite the increasing genetic advancements, the diagnosis of IEIs still lean on clinical diagnosis. Dermatological manifestations are observed in a large number of IEI patients and can lead to proper approach and prompt intervention. Methods This cross‐sectional study was carried out between 2018 and 2020 on IEIs at a Children's tertiary care center in Tehran, Iran. Demographic details and age at onset of symptoms of IEI were recorded. Results Overall, 212 patients were included. Cutaneous findings were reported in 95 (44.8%) patients, and 61 of 95 (64.2%) reported skin lesions as the first clinical presentation. Skin infection (69, 72.6%) was the most frequent cutaneous manifestation, followed by eczematous rash (24, 25%). Conclusions Skin manifestations are a common feature in IEI patients and are readily recognizable by healthcare providers. This study tried to provide information on prognostic consequences

Eculizumab in Pediatric Kidney Disorders: A Review: Eculizumab in Kidney Disorders

Eculizumab is a humanized monoclonal antibody targeting the C5 (complement 5) memberof complement proteins and inhibiting its cleavage to C5a and C5b. Eculizumab has beenproven to be effective in a wide array of nephrologic, neurologic, and hematologic pediatricdisorders. Kidney disorders, particularly those with immune-mediated pathomechanism,are the most common indications of eculizumab, including atypical hemolytic uremicsyndrome (aHUS), hemolytic uremic syndrome (HUS), membranoproliferativeglomerulonephritis (MPGN), immunoglobulin A (IgA) nephropathy, hematopoietic stemcell transplant-associated thrombotic microangiopathy, and less commonly post-infectiousglomerulonephritis and diffuse proliferative lupus nephritis. In this review, we aimed tosummarize the current evidence on approved and off-label applications of eculizumab andtheir specific considerations in pediatric kidney disorders

JAGN1 mutation with distinct clinical features; two case reports and literature review

Abstract Jagunal homolog 1 (JAGN1) has been recognized as an essential protein in neutrophil function. The mutated JAGN1 is responsible for immunodeficiency related to innate and humoral defense mechanisms. This deficiency impairs neutrophil development and function, leading to recurrent infections and facial dysmorphism as phenotypic consequences of severe congenital neutropenia (SCN). We report two siblings having the reported JAGN1 mutation with different clinical manifestations. Recurrent abscess formation unresponsive to antibiotic therapy, a history of delayed umbilical separation, frequent bacterial or fungal infection, dysmorphic face, failure to thrive, and other coexisting organ abnormalities should prompt physicians to syndromic immunodeficiencies involving neutrophils. Genetic investigations to elucidate the responsible mutation is critical as clinical management varies. Once the diagnosis is confirmed, a multi-disciplinary team should perform further workups to investigate other coexisting malformations and neurodevelopmental evaluation