Pediatric Allergy Immunology and Pulmonology最新文献

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Role of Serum Endocan Levels in Children with Bacterial and Viral Pneumonia: A Prospective, Case-Control Study. 血清内啡肽水平在儿童细菌性和病毒性肺炎中的作用:一项前瞻性病例对照研究。
IF 0.9 4区 医学
Pediatric Allergy Immunology and Pulmonology Pub Date : 2022-12-01 DOI: 10.1089/ped.2022.0110
Serçin Taşar, İlknur Fidancı, İsmail Bulut, Gül Kırtıl, Rukiye Ünsal Saç, Medine Ayşin Taşar
{"title":"Role of Serum Endocan Levels in Children with Bacterial and Viral Pneumonia: A Prospective, Case-Control Study.","authors":"Serçin Taşar,&nbsp;İlknur Fidancı,&nbsp;İsmail Bulut,&nbsp;Gül Kırtıl,&nbsp;Rukiye Ünsal Saç,&nbsp;Medine Ayşin Taşar","doi":"10.1089/ped.2022.0110","DOIUrl":"https://doi.org/10.1089/ped.2022.0110","url":null,"abstract":"<p><p><b><i>Introduction and Objective:</i></b> Endocan has been used as a biomarker in the differential diagnosis of pulmonary diseases in adults. However, there are only a limited number of studies on its use in children. In this context, the objective of this study is to evaluate the relationship between serum endocan levels in children with bacterial and viral pneumonia. <b><i>Materials and Methods:</i></b> The population of this prospective case-control study consisted of hospitalized children aged 1 month to 15 years diagnosed with pneumonia between August 2020 and July 2021, whereas the control group consisted of randomly selected healthy children. The demographic and clinical characteristics of all participants were recorded. Participants' endocan levels, white blood cell (WBC) and neutrophil counts, and C-reactive protein (CRP) and procalcitonin (PCT) levels were measured within the scope of the laboratory tests. <b><i>Results:</i></b> The study sample consisted of 41 children, of whom 21 had bacterial pneumonia and 20 had viral pneumonia, whereas the control group consisted of 47 healthy children. Serum endocan levels, WBC and neutrophil counts, and PCT and CRP levels were significantly higher in children with bacterial pneumonia than in children with viral pneumonia and healthy children (<i>P</i> < 0.05). Additionally, serum endocan levels were significantly higher in children with viral pneumonia than in healthy children (<i>P</i> < 0.001). The endocan levels in children with bacterial pneumonia were significantly associated with the need for intensive care (<i>P</i> = 0.004) and correlated with the length of hospital stay (LoS) (<i>r</i> = 0.592, <i>P</i> = 0.005). <b><i>Conclusion:</i></b> The findings of this study indicated that serum endocan levels can be used in the differential diagnosis of bacterial and viral pneumonias. Additionally, it was found that the need for intensive care and LoS were significantly correlated with endocan levels in children with bacterial pneumonia.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":"35 4","pages":"145-152"},"PeriodicalIF":0.9,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10484471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation Value of Allergy in Adenoid Hypertrophy Through Blood Inflammatory Cells and Total Immunoglobulin E. 通过血炎性细胞和总免疫球蛋白E评价腺样体肥大患者过敏反应的价值。
IF 0.9 4区 医学
Pediatric Allergy Immunology and Pulmonology Pub Date : 2022-12-01 DOI: 10.1089/ped.2022.0114
Hailing Zhang, Yanliang Sun, Chaofan Shen, Peng Jin, Wei Yue, Qinqin Zhang, Fengjuan Zhu, Hongping Zhang
{"title":"Evaluation Value of Allergy in Adenoid Hypertrophy Through Blood Inflammatory Cells and Total Immunoglobulin E.","authors":"Hailing Zhang,&nbsp;Yanliang Sun,&nbsp;Chaofan Shen,&nbsp;Peng Jin,&nbsp;Wei Yue,&nbsp;Qinqin Zhang,&nbsp;Fengjuan Zhu,&nbsp;Hongping Zhang","doi":"10.1089/ped.2022.0114","DOIUrl":"https://doi.org/10.1089/ped.2022.0114","url":null,"abstract":"<p><p><b><i>Objective:</i></b> Previous reports have indicated the close association of allergy with adenoid hypertrophy (AH). The aim of this study was to evaluate whether the inflammatory cells and total immunoglobulin E (IgE) in blood could be useful in the diagnosis of allergy in AH. <b><i>Methods:</i></b> Two hundred thirty-four children who underwent adenoidectomy were retrospectively enrolled in this study. Blood routine parameters were recorded, and total IgE as well as specific IgE (sIgE) of common allergens were tested perioperatively. The diagnostic utility of blood inflammatory cells and total IgE compared with serum sIgE testing was assessed. <b><i>Results:</i></b> In our study, 35.47% of AH children were atopic. <i>Dermatophagoides farinae</i> (d2), <i>Dermatophagoides pteronyssinus</i> (d1), and mold (mx2) were the most common sensitizing allergens. Significantly elevated eosinophil count, eosinophil to lymphocyte value, and total IgE were found in allergic AH children. As a result of receiver operating characteristic analysis, systemic total IgE could be a method to diagnose allergy in AH with a cutoff value of 46.55 and higher (area under curve [AUC] = 0.837; <i>P</i> < 0.001). Peripheral eosinophil count and eosinophil to lymphocyte were also able to predict positive allergy test result in AH children, with a cutoff value of 0.295 (AUC = 0.721; <i>P</i> < 0.001) and 0.082 (AUC = 0.685; <i>P</i> < 0.001), respectively. <b><i>Conclusion:</i></b> The presence of allergy can be distinguished by looking at peripheral total IgE and/or blood eosinophils in AH, which will guide us to the precise treatment of AH and also reduce the cost considerably.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":"35 4","pages":"139-144"},"PeriodicalIF":0.9,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10491182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Comparison of Children Hospitalized for Asthma Before and During the COVID-19 Pandemic. COVID-19大流行前和期间因哮喘住院儿童的比较
IF 0.9 4区 医学
Pediatric Allergy Immunology and Pulmonology Pub Date : 2022-12-01 DOI: 10.1089/ped.2022.0115
Joanne Nazif, Ellen Silver, Chihiro Okada, Elissa Gross
{"title":"Comparison of Children Hospitalized for Asthma Before and During the COVID-19 Pandemic.","authors":"Joanne Nazif,&nbsp;Ellen Silver,&nbsp;Chihiro Okada,&nbsp;Elissa Gross","doi":"10.1089/ped.2022.0115","DOIUrl":"https://doi.org/10.1089/ped.2022.0115","url":null,"abstract":"<p><p><b><i>Background:</i></b> Studies suggest that children with asthma experienced improved symptom control and less frequent inpatient admission during the COVID-19 (coronavirus disease 2019) pandemic. The characteristics of hospitalized children remain less well defined. <b><i>Methods:</i></b> This retrospective cohort study compared patients admitted for asthma during the pandemic with patients hospitalized the year prior at a children's hospital in the Bronx, New York. <b><i>Results:</i></b> In the year before the pandemic, 667 children were hospitalized for asthma, compared with 177 children the following year. Children admitted during the pandemic were older (7.8 versus 7.0 years, <i>P</i> = 0.04), more likely underweight (<i>P</i> < 0.01), and more likely to have public insurance (<i>P</i> = 0.02). Additionally, children hospitalized during the pandemic required intensive care (<i>P</i> = 0.03) and magnesium sulfate (<i>P</i> = 0.05) more frequently. Despite this, length of stay remained similar. <b><i>Conclusion:</i></b> While inpatient utilization for asthma decreased during the pandemic, children hospitalized were sicker on presentation. The cause of this is likely multifactorial and requires further study.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":"35 4","pages":"174-178"},"PeriodicalIF":0.9,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10843184","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Food-Dependent Exercise-Induced Anaphylaxis Caused by Carrots: A Case Report. 胡萝卜引起的食物依赖性运动致过敏反应1例报告。
IF 0.9 4区 医学
Pediatric Allergy Immunology and Pulmonology Pub Date : 2022-12-01 DOI: 10.1089/ped.2022.0122
Nami Hirai, Mika Ogata, Jun Kido, Masashi Nakamura, Nayu Sato, Nobue Takamatsu, Naoshi Shimojo, Yuji Aoki, Kayoko Matsunaga, Tomoyuki Mizukami
{"title":"Food-Dependent Exercise-Induced Anaphylaxis Caused by Carrots: A Case Report.","authors":"Nami Hirai,&nbsp;Mika Ogata,&nbsp;Jun Kido,&nbsp;Masashi Nakamura,&nbsp;Nayu Sato,&nbsp;Nobue Takamatsu,&nbsp;Naoshi Shimojo,&nbsp;Yuji Aoki,&nbsp;Kayoko Matsunaga,&nbsp;Tomoyuki Mizukami","doi":"10.1089/ped.2022.0122","DOIUrl":"https://doi.org/10.1089/ped.2022.0122","url":null,"abstract":"<p><p><b><i>Background:</i></b> Most cases of food-dependent exercise-induced anaphylaxis (FDEIA) are caused by eating wheat or crustaceans. However, fruits or vegetables may rarely act as allergens for FDEIA. We report a rare case of FDEIA caused by eating carrots. <b><i>Case Presentation:</i></b> An 8-year-old boy developed an anaphylactic reaction while playing, after eating lunch that included cooked carrots. Serum carrot-specific immunoglobulin E level was 0.19 UA/mL. The prick-by-prick test for raw carrots was positive <b>(</b>wheal diameter: 4 mm<b>)</b>. The patient developed urticaria after exercise provocation tests following ingestion of raw carrots. Carrot proteins were analyzed by 2-dimensional Western blotting to identify the causative allergens. Nine proteins were identified as candidate antigens at 21-66 kDa. <b><i>Conclusions:</i></b> Our patient presented with FDEIA symptoms after ingesting both raw and cooked carrots. Both raw and cooked carrots contain 9 proteins that may induce FDEIA.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":"35 4","pages":"166-169"},"PeriodicalIF":0.9,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10493572","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Digital Inhaler Technology: Is It Ready for Prime Time? 数字吸入器技术:准备好进入黄金时代了吗?
IF 0.9 4区 医学
Pediatric Allergy Immunology and Pulmonology Pub Date : 2022-09-01 DOI: 10.1089/ped.2022.0113
Scott Bickel, Ronald Morton, Nemr Eid
{"title":"Digital Inhaler Technology: Is It Ready for Prime Time?","authors":"Scott Bickel,&nbsp;Ronald Morton,&nbsp;Nemr Eid","doi":"10.1089/ped.2022.0113","DOIUrl":"https://doi.org/10.1089/ped.2022.0113","url":null,"abstract":"","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":"35 3","pages":"111-113"},"PeriodicalIF":0.9,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40368717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comparison of Acute Phase Thymus and Activation-Regulated Chemokine (TARC) Levels in Food Protein-Induced Enterocolitis Syndrome and IgE-Dependent Food Allergy. 食物蛋白诱导的肠结肠炎综合征和ige依赖性食物过敏急性期胸腺和活化调节趋化因子(TARC)水平的比较
IF 0.9 4区 医学
Pediatric Allergy Immunology and Pulmonology Pub Date : 2022-09-01 DOI: 10.1089/ped.2022.0089
Eishi Makita, Daisuke Sugawara, Sae Kuroda, Kae Itabashi, Yuka Hirakubo, Kazuhito Nonaka, Ko Ichihashi
{"title":"Comparison of Acute Phase Thymus and Activation-Regulated Chemokine (TARC) Levels in Food Protein-Induced Enterocolitis Syndrome and IgE-Dependent Food Allergy.","authors":"Eishi Makita,&nbsp;Daisuke Sugawara,&nbsp;Sae Kuroda,&nbsp;Kae Itabashi,&nbsp;Yuka Hirakubo,&nbsp;Kazuhito Nonaka,&nbsp;Ko Ichihashi","doi":"10.1089/ped.2022.0089","DOIUrl":"https://doi.org/10.1089/ped.2022.0089","url":null,"abstract":"Introduction: Patients with food protein-induced enterocolitis syndrome (FPIES) have elevated thymus and activation-regulated chemokine (TARC) levels in the acute phase. However, to the best of our knowledge, no study has evaluated TARC levels in the acute phase of immunoglobulin E-dependent food allergy (IgE-FA). If TARC elevation is a specific response to FPIES among FAs, TARC measurement may help distinguish between FPIES and IgE-FA. Thus, we investigated acute phase TARC levels in patients with FPIES and IgE-FA. Methods: Thirty-one episodes in 16 patients with FPIES and 20 episodes (13 were anaphylaxis) in 20 patients with IgE-FA were included. Patients with eczema were excluded. Serum TARC levels within 6 h of allergic reaction onset and age-adjusted TARC ratios (TARC levels divided by age-specific normal TARC values) were compared between the groups. Results: The median age was 1.1 and 3.6 years in the FPIES and IgE-FA groups, respectively (P < 0.001). The median (range) serum TARC (pg/mL) levels were significantly higher in the FPIES group than in the IgE-FA group [1,283 (410-3,821) versus 377 (109-1,539); P < 0.001]. The median (range) age-adjusted TARC ratios were also significantly higher in the FPIES group [2.56 (0.57-7.86) versus 1.08 (0.15-2.17); P < 0.001]. The area under the curve (AUC) for TARC to distinguish FPIES from IgE-FA was 0.926, and the AUC for the age-adjusted TARC ratio was 0.850. The odds ratio for FPIES diagnosis per 1,000 pg/mL increase in TARC was 31.6 (P = 0.002), and the odds ratio adjusted by age was 17.1 (P = 0.016). Conclusion: Acute phase TARC levels were higher in patients with FPIES than in patients with IgE-FA. The increase in acute phase TARC levels was considered to be a specific response to FPIES among FAs. Measurement of TARC levels in the acute phase may help differentiate FPIES from IgE-FA.","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":"35 3","pages":"114-119"},"PeriodicalIF":0.9,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40369159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Surfactant for a Patient with Refractory Pyopneumothorax and Acute Respiratory Distress Syndrome Due to Pneumococcal Necrotizing Pneumonia Complicated by a Bronchopleural Fistula. 表面活性剂治疗肺炎球菌坏死性肺炎合并支气管胸膜瘘致难治性气胸和急性呼吸窘迫综合征1例。
IF 0.9 4区 医学
Pediatric Allergy Immunology and Pulmonology Pub Date : 2022-09-01 DOI: 10.1089/ped.2022.0112
Zeynelabidin Ozturk, Merve Duman Küçükkuray, Suna Özdem, Hasibe Gökçe Çınar, Caner Aytekin, Özgür Çağlar
{"title":"Surfactant for a Patient with Refractory Pyopneumothorax and Acute Respiratory Distress Syndrome Due to Pneumococcal Necrotizing Pneumonia Complicated by a Bronchopleural Fistula.","authors":"Zeynelabidin Ozturk,&nbsp;Merve Duman Küçükkuray,&nbsp;Suna Özdem,&nbsp;Hasibe Gökçe Çınar,&nbsp;Caner Aytekin,&nbsp;Özgür Çağlar","doi":"10.1089/ped.2022.0112","DOIUrl":"https://doi.org/10.1089/ped.2022.0112","url":null,"abstract":"<p><p><b><i>Background:</i></b> Necrotizing pneumonia rarely occurs in children, but when it does it can be complicated by bronchopleural fistula, empyema, pneumothorax, sepsis, and acute respiratory distress syndrome (ARDS). Antimicrobial therapy is the cornerstone of its management; however, surgery is necessary in some cases. Ideally, surgical interventions are kept to a minimum, but this is not always possible if there is a mass effect from air and fluid in the pleural space, pulmonary necrosis leading to massive hemoptysis, uncontrolled sepsis, or difficulties with assisted ventilation. <b><i>Case Presentation:</i></b> Herein we present a patient with refractory pyopneumothorax and ARDS due to pneumococcal necrotizing pneumonia complicated by a bronchopleural fistula. The patient's clinical condition deteriorated despite antibiotics, surgical drainage, and assisted ventilation. Owing to pneumothorax with a high percentage of air leakage, bilateral diffuse collapse of the lungs, and insufficient oxygenation, surgical treatment was considered, but because of the patient's lack of tolerance for surgery due to hemodynamic reasons and the complications associated with surgery, medical treatment was determined to be more appropriate. Surfactant treatment was administered to the patient, resulting in significant clinical improvement. <b><i>Conclusion:</i></b> To the best of our knowledge, this is the first report of the use of surfactant to treat ARDS due to necrotizing pneumonia. Based on the presented case, we think surfactant can be considered as a salvage treatment for such patients.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":"35 3","pages":"120-123"},"PeriodicalIF":0.9,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40368719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Interstitial Lung Disease in an Adolescent Girl with Lipopolysaccharide-Responsive Beige-Like Anchor Deficiency. 脂多糖反应性米色锚缺乏症的青春期女孩间质性肺病
IF 0.9 4区 医学
Pediatric Allergy Immunology and Pulmonology Pub Date : 2022-09-01 DOI: 10.1089/ped.2022.0088
Gökçen Dilşa Tuğcu, Sanem Eryılmaz Polat, Ayşe Metin, Diclehan Orhan, Güzin Cinel
{"title":"Interstitial Lung Disease in an Adolescent Girl with Lipopolysaccharide-Responsive Beige-Like Anchor Deficiency.","authors":"Gökçen Dilşa Tuğcu,&nbsp;Sanem Eryılmaz Polat,&nbsp;Ayşe Metin,&nbsp;Diclehan Orhan,&nbsp;Güzin Cinel","doi":"10.1089/ped.2022.0088","DOIUrl":"https://doi.org/10.1089/ped.2022.0088","url":null,"abstract":"<p><p><b><i>Background:</i></b> Previously, lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency was categorized as a subtype of common variable immune deficiency. Research shows that LRBA deficiency is caused by dysregulation of T cell activation and expansion; it is placed under the category of immune dysregulation with cytotoxic T lymphocyte-associated protein 4 (CTLA-4) haploinsufficiency. Cohort studies have revealed a broad spectrum of clinical manifestations and variable phenotype expression, including immune dysregulation [enteropathy, autoimmune cytopenia, interstitial lung disease (ILD), etc.] on 1 hand and immune deficiency (hypogammaglobulinemia, recurrent infections, bronchiectasis, etc.) on the other hand. Chronic lung disease is frequently seen in LRBA deficiency and is associated with poor outcomes. <b><i>Case Presentation:</i></b> This case report evaluates a female who presented with recurrent pneumonia and bronchiectasis but did not respond to treatment; she was lastly diagnosed with ILD with detailed clinical, radiological, and pathological workup. <b><i>Conclusions:</i></b> The respiratory characteristics of patients with LRBA deficiency should be investigated, monitored, and treated from the time of its diagnosis. The awareness and involvement of pulmonologists to pulmonary morbidity of patients with LRBA deficiency in workup and clinical decision making are crucial.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":"35 3","pages":"133-138"},"PeriodicalIF":0.9,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40368718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Variable Expression of Lung Disease Due to a Novel Homozygous ABCA3 Variant. 由一种新的纯合ABCA3变异引起的肺部疾病的可变表达。
IF 0.9 4区 医学
Pediatric Allergy Immunology and Pulmonology Pub Date : 2022-09-01 DOI: 10.1089/ped.2022.0023
Samia Hamouda, Alix de Becdelièvre, Salma Ben Ameur, Ines Trabelsi, Monique Fabre, Ralph Epaud, Pascale Fanen, Khadija Boussetta
{"title":"Variable Expression of Lung Disease Due to a Novel Homozygous <i>ABCA3</i> Variant.","authors":"Samia Hamouda,&nbsp;Alix de Becdelièvre,&nbsp;Salma Ben Ameur,&nbsp;Ines Trabelsi,&nbsp;Monique Fabre,&nbsp;Ralph Epaud,&nbsp;Pascale Fanen,&nbsp;Khadija Boussetta","doi":"10.1089/ped.2022.0023","DOIUrl":"https://doi.org/10.1089/ped.2022.0023","url":null,"abstract":"<p><p><b><i>Background:</i></b> Mutations in the ATP-binding cassette transporter A3 (<i>ABCA3</i>) gene are one of the most common surfactant disorders leading to interstitial lung diseases (ILD). The clinical spectrum and severity of lung disease caused by ABCA3 deficiency due to missense variants is variable. <b><i>Case Presentations:</i></b> A novel <i>ABCA3</i> c.3135G>C (p.Gln1045His) mutation was identified at the homozygous state in 3 subjects from 2 unrelated families: one 19-month-old boy with severe ILD and his homozygous pauci-symptomatic mother, and one 10-year-old girl with moderate late-onset ILD. Corticosteroid pulses associated with hydroxychloroquine were beneficial for both children. <b><i>Conclusion:</i></b> We illustrate here the huge intra- and interfamilial phenotypic variability associated with the same homozygous missense <i>ABCA3</i> mutation, and the benefit of identifying the disease for treatment, follow-up, and appropriate genetic counseling.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":"35 3","pages":"124-128"},"PeriodicalIF":0.9,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40369158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome. 对依那西普有良好反应的儿童患者中一种罕见的自身炎症性疾病:伴B细胞免疫缺陷的铁母细胞性贫血、周期性发热和发育迟缓综合征。
IF 0.9 4区 医学
Pediatric Allergy Immunology and Pulmonology Pub Date : 2022-09-01 DOI: 10.1089/ped.2022.0090
Rabia Miray Kisla Ekinci, Aslıhan Zararsiz, Gizem Urel Demir, Ozlem Anlas
{"title":"A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome.","authors":"Rabia Miray Kisla Ekinci,&nbsp;Aslıhan Zararsiz,&nbsp;Gizem Urel Demir,&nbsp;Ozlem Anlas","doi":"10.1089/ped.2022.0090","DOIUrl":"https://doi.org/10.1089/ped.2022.0090","url":null,"abstract":"<p><p><b><i>Introduction:</i></b> Sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome is caused by biallelic TRNT1 mutations. TRNT1 gene encodes a CCA-adding tRNA nucleotidyl transferase enzyme. Mutant TRNT1 results in immunodeficiency and anemia in various degrees, accompanied by several organ involvement. <b><i>Case Presentation:</i></b> We present here a 15-month old male, demonstrated brittle hair, growth hormone deficiency, recurrent fever, arthritis, recurrent infections, mild anemia, and hypogammaglobulinemia. The patient did not respond to colchicine treatment, and after establishing SIFD diagnosis with the presence of homozygote c.948-949delAAinsGG (p.Lys317Glu) mutation in TRNT1 gene, we commenced monthly intravenous immunoglobulin replacement and weekly subcutaneous etanercept. A rapid resolution of fever episodes and infections occurred after initiation of this treatment regimen. Afterward, both anemia and growth parameters have improved during follow-up. <b><i>Conclusion:</i></b> SIFD syndrome should be considered in patients with recurrent fever, arthritis, and growth retardation even in the absence of severe anemia and prominent hypogammaglobulinemia.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":"35 3","pages":"129-132"},"PeriodicalIF":0.9,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40368716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
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