Respiratory Medicine Case Reports最新文献

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Bronchoscopic lung volume reduction complicated by ipsilateral pleural effusion 支气管镜下肺体积缩小合并同侧胸腔积液。
IF 0.8
Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2024.102151
Marc Assaad, Wasif Shamsi, Anthony Loschner, Maria del Mar Cirino-Marcano
{"title":"Bronchoscopic lung volume reduction complicated by ipsilateral pleural effusion","authors":"Marc Assaad,&nbsp;Wasif Shamsi,&nbsp;Anthony Loschner,&nbsp;Maria del Mar Cirino-Marcano","doi":"10.1016/j.rmcr.2024.102151","DOIUrl":"10.1016/j.rmcr.2024.102151","url":null,"abstract":"<div><div>Chronic obstructive lung disease is the third leading cause of death worldwide. It affects the airways and lung parenchyma leading to emphysema. Bronchoscopic lung volume reduction is another strategy that aims to reduce air trapping and hyperinflation, leading to improvement in symptoms and pulmonary function. Several techniques have been employed, one of them is the blocking method using Zephyr or Spiration valves. The use of both valves is approved by the Food and Drug Administration view their established efficacy in improving lung functions, quality of life and survival. Although they have a relatively safe profile, several adverse events have been reported, pneumothorax being the most common and pleural effusion being the least reported. We show herein, a case of 74-year-old female presenting with pleural effusion secondary to bronchoscopic lung volume reduction. Although uncommon, highlighting this potential outcome is crucial.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"53 ","pages":"Article 102151"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11713475/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142958481","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Extensively drug-resistant Acinetobacter baumannii lung abscess and empyema in a patient with fulminant mycoplasma pneumoniae pneumonia 暴发性肺炎支原体肺炎患者的广泛耐药鲍曼不动杆菌肺脓肿和脓肿。
IF 0.8
Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2024.102150
Siyu Yang, Chaojie Wei
{"title":"Extensively drug-resistant Acinetobacter baumannii lung abscess and empyema in a patient with fulminant mycoplasma pneumoniae pneumonia","authors":"Siyu Yang,&nbsp;Chaojie Wei","doi":"10.1016/j.rmcr.2024.102150","DOIUrl":"10.1016/j.rmcr.2024.102150","url":null,"abstract":"<div><div>Acinetobacter baumannii is a pathogen that typically causes nosocomial infections. Its resistance to multiple antibiotics poses significant challenges for treatment. Fulminant Mycoplasma pneumoniae pneumonia (FMPP) is relatively rare despite Mycoplasma pneumoniae pneumonia is common among children and young adults. We present a case involving the concurrence of FMPP and lung abscess and empyema caused by extensively drug-resistant (XDR) A.baumanii. The patient was successfully treated through a novel and effective antibacterial regimen combined with timely drainage.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"53 ","pages":"Article 102150"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732548/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142985590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Acute eosinophilic pneumonia caused by an exploding mobile battery: A case report 由手机电池爆炸引起的急性嗜酸性肺炎1例
IF 0.8
Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102196
Hiroe Aramaki , Masafumi Shimoda , Kozo Morimoto , Kozo Yoshimori , Ken Ohta , Yoshiaki Tanaka
{"title":"Acute eosinophilic pneumonia caused by an exploding mobile battery: A case report","authors":"Hiroe Aramaki ,&nbsp;Masafumi Shimoda ,&nbsp;Kozo Morimoto ,&nbsp;Kozo Yoshimori ,&nbsp;Ken Ohta ,&nbsp;Yoshiaki Tanaka","doi":"10.1016/j.rmcr.2025.102196","DOIUrl":"10.1016/j.rmcr.2025.102196","url":null,"abstract":"<div><div>A 42-year-old woman presented to our hospital with fever and worsening dyspnea. Eight days prior to symptom onset, she inhaled smoke from a fire caused by an exploded mobile battery. Infiltrative shadows were observed in the bilateral lung fields on chest computed tomography scan, and the eosinophil fraction of the bronchoalveolar lavage fluid was elevated to 61.2 %. Therefore, she was diagnosed with acute eosinophilic pneumonia (AEP). Although AEP can be triggered by various inhalants, including tobacco exposure, this is the first reported case of AEP caused by a mobile battery explosion.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"55 ","pages":"Article 102196"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143734591","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nocardia empyema in an immunocompromised host: A case report 免疫功能低下宿主的脓胸诺卡菌1例报告
IF 0.8
Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102199
Carlos Ignacio Rodríguez Reyna , Erick Torres Luna , Ajay Sheshadri , Saadia Faiz , Lara Bashoura , Nathan Box
{"title":"Nocardia empyema in an immunocompromised host: A case report","authors":"Carlos Ignacio Rodríguez Reyna ,&nbsp;Erick Torres Luna ,&nbsp;Ajay Sheshadri ,&nbsp;Saadia Faiz ,&nbsp;Lara Bashoura ,&nbsp;Nathan Box","doi":"10.1016/j.rmcr.2025.102199","DOIUrl":"10.1016/j.rmcr.2025.102199","url":null,"abstract":"<div><div>Patients with myeloproliferative disorders such as primary myelofibrosis are at an increased risk of opportunistic infections including <em>Nocardia</em> pneumonia. <em>Nocardia</em> can become disseminated with the central nervous system being the primary site affected although any organ system can be involved. Here we present a case of <em>Nocardia</em> empyema, a rare and sparsely documented location of infection, in a post matched unrelated donor hematopoietic cell transplant patient. Further complicating this case was the presence of fungal pneumonia in the right lower lobe that led to delayed diagnosis of <em>Nocardia</em> pneumonia and empyema as non-resolving nodular opacities were thought to be worsening fungal pneumonia. This case highlights the difficulties in diagnosing <em>Nocardia</em> infections, the limitations of our diagnostic tools, the atypical presentation of empyema in an immunocompromised host, and Hickam's dictum; the idea that a patient can have multiple diagnoses occurring simultaneously.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"55 ","pages":"Article 102199"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143824073","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Compassionate use of tezepelumab in near fatal asthma: A case report and review of the literature tezepelumab在近致死性哮喘中的同情使用:一个病例报告和文献回顾
IF 0.8
Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102223
Mako Nakajima , Masashi Matsuyama , Yuki Yamazaki , Hiroya Sunabe , Yuta Takahashi , Keishun Boku , Takeshi Miura , Tomohiro Tamura , Yoshiaki Inoue , Nobuyuki Hizawa
{"title":"Compassionate use of tezepelumab in near fatal asthma: A case report and review of the literature","authors":"Mako Nakajima ,&nbsp;Masashi Matsuyama ,&nbsp;Yuki Yamazaki ,&nbsp;Hiroya Sunabe ,&nbsp;Yuta Takahashi ,&nbsp;Keishun Boku ,&nbsp;Takeshi Miura ,&nbsp;Tomohiro Tamura ,&nbsp;Yoshiaki Inoue ,&nbsp;Nobuyuki Hizawa","doi":"10.1016/j.rmcr.2025.102223","DOIUrl":"10.1016/j.rmcr.2025.102223","url":null,"abstract":"<div><div>A 38-year-old man with near fatal asthma requiring intubation and invasive mechanical ventilation (IMV) was transferred to our hospital. Veno-venous extracorporeal membrane oxygenation (VV-ECMO) was initiated due to hypotension and mediastinal emphysema secondary to barotrauma. Since high-dose systemic corticosteroid therapy failed to relieve the severe bronchospasm, a single dose of tezepelumab was administered on a compassionate basis. This intervention resulted in successful extubation 7 days later. This is a rare case in which a biologic agent was used as a rescue therapy for near fatal asthma. This case is presented along with a review of the relevant literature.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"55 ","pages":"Article 102223"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143881475","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diffuse necrotizing pneumonia, cavitations and hemoptysis: A case of sweet syndrome 弥漫性坏死性肺炎、空化和咯血:甜证1例
IF 0.8
Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102225
Felicia Montero-Arias , Randall Rojas-Varela , Abril Rodriguez-Loria , Ricardo Ramos-Castro , Simon Belilty-Montvelisky , Rodrigo Cartin-Ceba
{"title":"Diffuse necrotizing pneumonia, cavitations and hemoptysis: A case of sweet syndrome","authors":"Felicia Montero-Arias ,&nbsp;Randall Rojas-Varela ,&nbsp;Abril Rodriguez-Loria ,&nbsp;Ricardo Ramos-Castro ,&nbsp;Simon Belilty-Montvelisky ,&nbsp;Rodrigo Cartin-Ceba","doi":"10.1016/j.rmcr.2025.102225","DOIUrl":"10.1016/j.rmcr.2025.102225","url":null,"abstract":"<div><div>A 33-year-old man presented with a 1-week history of odynophagia, fever, and dyspnea. Initial chest computed tomography (CT) revealed multiple bilateral consolidations predominantly in the lower lobes. Laboratory investigations revealed leukocytosis, while cultures remained negative and the patient was started on antibiotics for suspected community-acquired pneumonia. Despite this, his condition deteriorated, with follow-up CT showing necrotizing pneumonia and cavitations. He subsequently developed violaceous papular lesions on the upper extremities, and skin biopsy confirmed Sweet syndrome, characterized by dermal neutrophilic infiltration without leukocytoclastic vasculitis. Corticosteroid therapy was initiated; however, the patient succumbed to massive hemoptysis one month after admission. This case highlights the importance of considering systemic inflammatory conditions like Sweet syndrome in the differential diagnosis of culture-negative pneumonia.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"56 ","pages":"Article 102225"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143905870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Case of a rare EGFR mutation L747P identified using the lung cancer compact Panel™ leading to successful Afatinib treatment 使用肺癌紧凑面板™发现罕见的EGFR突变L747P病例,导致成功的阿法替尼治疗
IF 0.8
Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102255
Hitoshi Sumitani , Akihiro Tamiya , Yuki Iwahashi , Daisuke Sekinada , Akihiro Tsukaguchi , Yuya Tanaka , Takafumi Iguchi , Yuji Inagaki , Yoshihiko Taniguchi , Tomoko Kagawa , Yoshinobu Matsuda , Kyoichi Okishio
{"title":"Case of a rare EGFR mutation L747P identified using the lung cancer compact Panel™ leading to successful Afatinib treatment","authors":"Hitoshi Sumitani ,&nbsp;Akihiro Tamiya ,&nbsp;Yuki Iwahashi ,&nbsp;Daisuke Sekinada ,&nbsp;Akihiro Tsukaguchi ,&nbsp;Yuya Tanaka ,&nbsp;Takafumi Iguchi ,&nbsp;Yuji Inagaki ,&nbsp;Yoshihiko Taniguchi ,&nbsp;Tomoko Kagawa ,&nbsp;Yoshinobu Matsuda ,&nbsp;Kyoichi Okishio","doi":"10.1016/j.rmcr.2025.102255","DOIUrl":"10.1016/j.rmcr.2025.102255","url":null,"abstract":"<div><div>This report describes the case of a 44-year-old Japanese female diagnosed with Stage IA lung adenocarcinoma harboring a rare epidermal growth factor receptor (<em>EGFR</em>) <em>L747P</em> mutation. Conventional polymerase chain reaction (PCR)-based assays did not identify the mutation. Despite undergoing surgery and subsequent chemoradiotherapy, disease recurrence occurred. A computed tomography (CT)-guided lung biopsy revealed the presence of the <em>L747P</em> mutation using the Lung Cancer Compact Panel™. Afatinib therapy was initiated, leading to a significant clinical response and size reduction of metastatic lung lesions. A literature review was conducted to assess the efficacy of afatinib in patients with the <em>L747P</em> mutation and explore the methods available for its detection. This case highlights the utility of the Lung Cancer Compact Panel™ in detecting this unique mutation for targeted therapy.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"57 ","pages":"Article 102255"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144572132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
From diagnostic biopsy to bullectomy: A case of progressive complications in pulmonary langerhans cell histiocytosis 从诊断活检到大泡切除术:肺朗格汉斯细胞组织细胞增多症的进行性并发症1例
IF 0.8
Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102263
Yuan-Chia Hsin , Yung-Chia Huang , Yen-Lin Wu , Shih-Wei Lee , Po-Chun Lo
{"title":"From diagnostic biopsy to bullectomy: A case of progressive complications in pulmonary langerhans cell histiocytosis","authors":"Yuan-Chia Hsin ,&nbsp;Yung-Chia Huang ,&nbsp;Yen-Lin Wu ,&nbsp;Shih-Wei Lee ,&nbsp;Po-Chun Lo","doi":"10.1016/j.rmcr.2025.102263","DOIUrl":"10.1016/j.rmcr.2025.102263","url":null,"abstract":"<div><div>A 38-year-old male smoker presented with a persistent dry cough lasting several weeks. Chest radiography showed bilateral reticulonodular opacities predominantly in the upper lung fields. Subsequent chest computed tomography revealed diffuse, thick-walled, irregular cystic lesions mainly involving the mid and upper lung zones with a centrilobular distribution. Histopathological examination obtained through video-assisted thoracoscopic surgery demonstrated bronchiolocentric nodules and cysts containing Langerhans cells with convoluted nuclei, confirmed by positive immunohistochemical staining for CD1a, S-100, and Langerin. These findings confirmed the diagnosis of pulmonary Langerhans Cell Histiocytosis (PLCH). The patient's symptoms improved initially following smoking cessation but were complicated by recurrent pneumothorax and the formation of giant bullae, ultimately requiring surgical intervention. This case emphasizes the association between PLCH and smoking, highlights potential complications following surgical biopsy, and underscores smoking cessation as a critical therapeutic measure, with targeted therapies reserved for refractory or mutation-specific cases.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"57 ","pages":"Article 102263"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144696960","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Tropheryma whipplei in interstitial lung disease: A case series 肺间质性疾病中的惠氏滋养瘤:一个病例系列
IF 0.7
Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102279
Juan Li , Bingpeng Guo , Gui Zhao, Rui Wei, Qun Luo, Chao Zhuo, Qian Han
{"title":"Tropheryma whipplei in interstitial lung disease: A case series","authors":"Juan Li ,&nbsp;Bingpeng Guo ,&nbsp;Gui Zhao,&nbsp;Rui Wei,&nbsp;Qun Luo,&nbsp;Chao Zhuo,&nbsp;Qian Han","doi":"10.1016/j.rmcr.2025.102279","DOIUrl":"10.1016/j.rmcr.2025.102279","url":null,"abstract":"<div><h3>Introduction</h3><div><em>Tropheryma whipplei</em> (TW) is a bacterium associated with Whipple's disease (WD). It primarily affects the small intestine, heart and eyes, but some studies have explored its relationship with parenchymal disease. With technological advances, next-generation technology has enabled detection of TW in bronchoalveolar lavage (BALF),especially in patients with interstitial lung disease (ILD).</div></div><div><h3>Case series</h3><div>We describe three patients with ILD that was progressive, despite aggressive treatment. Next generation sequecning of BALF revealed the presence of TW, confirmed by polymerase chain reaction (PCR). Periodic acid-Schiff (PAS)-positive macrophages were identified in duodenal biopsy specimens from one patient. All three patients were prescribed doxycycline and hydroxychloroquine, as well as <strong>pharmacotherapy for</strong> ILD. During 3–6 months follow-up, TW was not detected in BALF and ILD was stable.</div></div><div><h3>Conclusion</h3><div>We report TW detection in BALF of 3 ILD patients, indicating its potential role as a disease-modifying pathogen in ILD progression. These cases underscore the impact of lung microbiome disturbances on ILD pathophysiology and highlight therapeutic implications.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"57 ","pages":"Article 102279"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144988247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A novel cystic fibrosis mutation “delS1255” in a male diagnosed at birth 一名男性在出生时诊断出一种新的囊性纤维化突变“delS1255”
IF 0.7
Respiratory Medicine Case Reports Pub Date : 2025-01-01 DOI: 10.1016/j.rmcr.2025.102286
Mirna Gerges , Sarah Sutherland , Meredith Chiasson
{"title":"A novel cystic fibrosis mutation “delS1255” in a male diagnosed at birth","authors":"Mirna Gerges ,&nbsp;Sarah Sutherland ,&nbsp;Meredith Chiasson","doi":"10.1016/j.rmcr.2025.102286","DOIUrl":"10.1016/j.rmcr.2025.102286","url":null,"abstract":"<div><div>Cystic fibrosis (CF) is an autosomal recessive disorder caused by pathogenic variants in the <em>CFTR</em> gene. Over 2000 CFTR variants have been identified, and ongoing genetic characterization remains critical for guiding eligibility for CFTR modulator therapies and contributing to variant databases that support diagnosis and research. We describe a 20-year-old Caucasian male who is a compound heterozygous for the common F508del mutation and a novel variant, p.Ser1255del (c.3763_3765delTCA; delS1255). He was diagnosed with CF in the neonatal period following meconium ileus, confirmed by elevated sweat chloride testing. His clinical course included pancreatic insufficiency, chronic <em>Staphylococcus aureus</em> colonization, and sinus disease with nasal polyps, but no evidence of CF-related diabetes or liver disease. Molecular diagnostic testing conducted at Stanford Clinical Laboratory using PCR and bidirectional Sanger sequencing confirmed the F508del mutation and identified the previously unreported delS1255 variant, an in-frame deletion of a serine residue at position 1255. This variant is absent from population databases and a missense mutation at the same codon has previously been associated with severe CF phenotypes, supporting its likely pathogenicity. The patient was initiated on elexacaftor-tezacaftor-ivacaftor (ETI) therapy in 2021, based on the presence of the F508del allele. Since starting ETI, he has experienced substantial clinical improvement, including improved spirometry, radiology, and a marked reduction in sweat chloride concentration. The response is presumed to be driven by the F508del variant, while the effect of delS1255 on modulator responsiveness remains unknown. This case adds to the growing spectrum of <em>CFTR</em> variants with clinical relevance.</div></div>","PeriodicalId":51565,"journal":{"name":"Respiratory Medicine Case Reports","volume":"58 ","pages":"Article 102286"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145099025","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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