An 18-year-old healthy male complained of a 7-day history of fever, cough, and sore throat, along with a three-day history of left facial swelling. The x-rays revealed subcutaneous emphysema in the chest, neck, face, and mediastinum region (Pneumomediastinum). Furthermore, an area of infiltration was visible, indicating pneumonia. Therefore, we immediately started him on intravenous antibiotics. We then moved the patient to an isolation room, considering pulmonary tuberculosis as one of the differential diagnoses. However, the Acid Fast Bacilli (AFB), Mycobacterium Tuberculosis Bacteria-Polymerase Chain Reaction (MTB PCR), and sputum for gram stain and culture were all negative. On the other hand, the test for parainfluenza virus 3 was positive. The patient was observed with a daily chest x-ray to monitor the progress of pneumonia and subcutaneous emphysema. Fortunately, the subcutaneous emphysema was significantly reduced on a daily basis until it was completely resolved before discharge home.
{"title":"A rare case of subcutaneous emphysema in a young and healthy patient with parainfluenza virus 3 pneumonia.","authors":"Yahia Yaseen Akeely, Saleh Alesa, Hassan Gafar Hassan, Sultan Almarzouqi, Mohamad Ziad Alchammat, Omar Elghor, Shabana Begum Patel, Emad Hamdi Shaat","doi":"10.1002/rcr2.70025","DOIUrl":"https://doi.org/10.1002/rcr2.70025","url":null,"abstract":"<p><p>An 18-year-old healthy male complained of a 7-day history of fever, cough, and sore throat, along with a three-day history of left facial swelling. The x-rays revealed subcutaneous emphysema in the chest, neck, face, and mediastinum region (Pneumomediastinum). Furthermore, an area of infiltration was visible, indicating pneumonia. Therefore, we immediately started him on intravenous antibiotics. We then moved the patient to an isolation room, considering pulmonary tuberculosis as one of the differential diagnoses. However, the Acid Fast Bacilli (AFB), Mycobacterium Tuberculosis Bacteria-Polymerase Chain Reaction (MTB PCR), and sputum for gram stain and culture were all negative. On the other hand, the test for parainfluenza virus 3 was positive. The patient was observed with a daily chest x-ray to monitor the progress of pneumonia and subcutaneous emphysema. Fortunately, the subcutaneous emphysema was significantly reduced on a daily basis until it was completely resolved before discharge home.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":"12 9","pages":"e70025"},"PeriodicalIF":0.8,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11403177/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142298214","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}
Pub Date : 2024-09-12eCollection Date: 2024-09-01DOI: 10.1002/rcr2.1446
Khaled Musameh, Shane O'Brien, Roshane Mehboob, Thomas Butler, Zara Cunningham, Carol Buckley, Armin Atzinger, Torsten Kuwert, Patrick Mitchell, Seamas C Donnelly
Coronavirus disease 2019 (COVID-19) often leads to a spectrum of pulmonary complications, including interstitial lung disease (ILD) with the potential for fibrotic sequelae. Assessing the presence of ongoing active inflammation versus established residual fibrosis as a result of lung parenchymal injury and repair in these patients is a clinical challenge. Better understanding of the disease process is crucial for guiding appropriate therapeutic strategies. We aim to investigate the use of positron emission tomography / computer tomography (PET/CT) scans and their role in diagnosing interstitial pneumonitis (IP) post COVID infections.
{"title":"Evaluation of fibroblast activation protein-specific PET/CT in a patient with post-COVID pneumonitis.","authors":"Khaled Musameh, Shane O'Brien, Roshane Mehboob, Thomas Butler, Zara Cunningham, Carol Buckley, Armin Atzinger, Torsten Kuwert, Patrick Mitchell, Seamas C Donnelly","doi":"10.1002/rcr2.1446","DOIUrl":"https://doi.org/10.1002/rcr2.1446","url":null,"abstract":"<p><p>Coronavirus disease 2019 (COVID-19) often leads to a spectrum of pulmonary complications, including interstitial lung disease (ILD) with the potential for fibrotic sequelae. Assessing the presence of ongoing active inflammation versus established residual fibrosis as a result of lung parenchymal injury and repair in these patients is a clinical challenge. Better understanding of the disease process is crucial for guiding appropriate therapeutic strategies. We aim to investigate the use of positron emission tomography / computer tomography (PET/CT) scans and their role in diagnosing interstitial pneumonitis (IP) post COVID infections.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":"12 9","pages":"e01446"},"PeriodicalIF":0.8,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11391468/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142298221","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}
Pub Date : 2024-09-10eCollection Date: 2024-09-01DOI: 10.1002/rcr2.70004
Joseph Inauen, Simone Barry
This clinical case highlights the diagnostic challenges encountered in a young adult smoker presenting with undifferentiated pulmonary nodules. Initial investigations were inconclusive, necessitating surgical lung biopsy due to the nodules' size and location. The histopathological examination revealed pulmonary Langerhans cell histiocytosis (PLCH). This emphasizes the importance of considering PLCH in the differential diagnosis of pulmonary nodules, particularly in smokers. Moreover, it underscores the value of surgical biopsy in cases where other diagnostic techniques are limited. Early recognition and accurate diagnosis are crucial for optimal management and outcomes in PLCH.
{"title":"Unravelling diagnostic challenges: A case report of pulmonary langerhans cell histiocytosis with atypical radiologic presentation.","authors":"Joseph Inauen, Simone Barry","doi":"10.1002/rcr2.70004","DOIUrl":"https://doi.org/10.1002/rcr2.70004","url":null,"abstract":"<p><p>This clinical case highlights the diagnostic challenges encountered in a young adult smoker presenting with undifferentiated pulmonary nodules. Initial investigations were inconclusive, necessitating surgical lung biopsy due to the nodules' size and location. The histopathological examination revealed pulmonary Langerhans cell histiocytosis (PLCH). This emphasizes the importance of considering PLCH in the differential diagnosis of pulmonary nodules, particularly in smokers. Moreover, it underscores the value of surgical biopsy in cases where other diagnostic techniques are limited. Early recognition and accurate diagnosis are crucial for optimal management and outcomes in PLCH.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":"12 9","pages":"e70004"},"PeriodicalIF":0.8,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11386299/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142298229","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}
Pub Date : 2024-09-09eCollection Date: 2024-09-01DOI: 10.1002/rcr2.70013
Jenny Sw Yun, James McCracken, Vikas Wadhwa
Although rare, radiotherapy can induce secondary malignancies, such as radiation-induced angiosarcoma (RIAS), which is associated with a poor prognosis. Early detection is crucial for improving outcomes. The modified Cahan criteria are instrumental in diagnosing RIAS, which is ultimately confirmed through histological examination. We present a case of a middle-aged woman who developed RIAS after undergoing radiotherapy post-surgery and adjuvant chemotherapy for right-sided breast cancer. The patient presented with a rapidly reaccumulating right-sided pleural effusion, and RIAS was confirmed through pleural biopsy and aspirate. This case report highlights the pathway for establishing a diagnosis of RIAS and the need for early detection through clinical examination and surveillance imaging for patients following radiotherapy.
{"title":"Radiation-induced angiosarcoma-An unusual cause of recurrent pleural effusion.","authors":"Jenny Sw Yun, James McCracken, Vikas Wadhwa","doi":"10.1002/rcr2.70013","DOIUrl":"https://doi.org/10.1002/rcr2.70013","url":null,"abstract":"<p><p>Although rare, radiotherapy can induce secondary malignancies, such as radiation-induced angiosarcoma (RIAS), which is associated with a poor prognosis. Early detection is crucial for improving outcomes. The modified Cahan criteria are instrumental in diagnosing RIAS, which is ultimately confirmed through histological examination. We present a case of a middle-aged woman who developed RIAS after undergoing radiotherapy post-surgery and adjuvant chemotherapy for right-sided breast cancer. The patient presented with a rapidly reaccumulating right-sided pleural effusion, and RIAS was confirmed through pleural biopsy and aspirate. This case report highlights the pathway for establishing a diagnosis of RIAS and the need for early detection through clinical examination and surveillance imaging for patients following radiotherapy.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":"12 9","pages":"e70013"},"PeriodicalIF":0.8,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11381914/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142298225","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}
Tracheal stenosis is a common complication of endotracheal intubation or tracheostomy, resulting in significant morbidity and mortality. Bronchoscope interventions have been proposed as a safe alternative for the management of post-intubation post-intubation tracheal stenosis (PITS). Data for patients diagnosed with PITS across two hospitals, between 2021 and 2022, encompassing demographic, clinical, and procedural details were gathered from electronic medical records, and analysed. Primary outcomes centred on assessing the incidence and severity of PITS through bronchoscope examination and radiological imaging, and the efficacy of bronchoscope interventions, including stenting and the application of mitomycin C. Twelve patients were managed for PITS. Majority of patients were females (9/12) with mean age of 46.41 years. Presenting signs and symptoms were dyspnea, rhonchi and failed extubation, the mean duration of intubation/ tracheostomy is 16.41 days (range: 3-40 days). Most common comorbidity was type 2 diabetes, (5 patients, 41.6%). The lesions mean length was 3.09 cm and Cotton-Meyer Grade II and III. Prompt evaluation is crucial, in these patients. The Cotton-Meyer grade is pivotal in treatment decisions, with intubating times correlating with the severity of stenotic disease. Our case series demonstrates the increasing utility of bronchoscopy in managing these cases.
{"title":"Management of postintubation tracheal stenosis with bronchoscope methods-An experience from two centers.","authors":"Arvindran Alaga, Vineet Simhan, Srivatsa Lokeshwaran, Sunil Kumar K, Sanjana Chetana Shanmukhappa","doi":"10.1002/rcr2.70014","DOIUrl":"10.1002/rcr2.70014","url":null,"abstract":"<p><p>Tracheal stenosis is a common complication of endotracheal intubation or tracheostomy, resulting in significant morbidity and mortality. Bronchoscope interventions have been proposed as a safe alternative for the management of post-intubation post-intubation tracheal stenosis (PITS). Data for patients diagnosed with PITS across two hospitals, between 2021 and 2022, encompassing demographic, clinical, and procedural details were gathered from electronic medical records, and analysed. Primary outcomes centred on assessing the incidence and severity of PITS through bronchoscope examination and radiological imaging, and the efficacy of bronchoscope interventions, including stenting and the application of mitomycin C. Twelve patients were managed for PITS. Majority of patients were females (9/12) with mean age of 46.41 years. Presenting signs and symptoms were dyspnea, rhonchi and failed extubation, the mean duration of intubation/ tracheostomy is 16.41 days (range: 3-40 days). Most common comorbidity was type 2 diabetes, (5 patients, 41.6%). The lesions mean length was 3.09 cm and Cotton-Meyer Grade II and III. Prompt evaluation is crucial, in these patients. The Cotton-Meyer grade is pivotal in treatment decisions, with intubating times correlating with the severity of stenotic disease. Our case series demonstrates the increasing utility of bronchoscopy in managing these cases.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":"12 9","pages":"e70014"},"PeriodicalIF":0.8,"publicationDate":"2024-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11381110/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142156300","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}
Pub Date : 2024-09-08eCollection Date: 2024-09-01DOI: 10.1002/rcr2.70017
Hee Yun Seol, Ganghee Chae, Jin Hyoung Kim, Yun Seong Kim, Seong Hoon Yoon, Taehoon Lee
As the demand for advanced bronchoscopic procedures increases, prolonged sedation with adequate oxygenation has become essential. Traditionally, these procedures require an anesthesiologist to provide (positive-pressure or jet) ventilator support. However, recent innovations have enabled advanced bronchoscopy under high-flow endotracheal oxygenation and deep sedation without these requirements. Following oropharyngeal lidocaine anaesthesia, deep sedation was induced using fentanyl and remimazolam. Thereafter lidocaine was instilled into the larynx, trachea, and main bronchi using a flexible bronchoscope with a spray catheter. Finally, either an uncuffed endotracheal tube (Case 1) or a rigid bronchoscope (Case 2) was inserted, and advanced bronchoscopic procedures, such as cryobiopsy and stent insertion, were successfully performed without a ventilator or an anesthesiologist. Our novel technique is expected to facilitate the easier and adequate performance of advanced high-level bronchoscopic procedures by pulmonologists, even in resource-limited settings.
{"title":"Intubated or rigid bronchoscopy under high-flow oxygenation and deep sedation without ventilator or anesthesiologist: A report on a new technique.","authors":"Hee Yun Seol, Ganghee Chae, Jin Hyoung Kim, Yun Seong Kim, Seong Hoon Yoon, Taehoon Lee","doi":"10.1002/rcr2.70017","DOIUrl":"https://doi.org/10.1002/rcr2.70017","url":null,"abstract":"<p><p>As the demand for advanced bronchoscopic procedures increases, prolonged sedation with adequate oxygenation has become essential. Traditionally, these procedures require an anesthesiologist to provide (positive-pressure or jet) ventilator support. However, recent innovations have enabled advanced bronchoscopy under high-flow endotracheal oxygenation and deep sedation without these requirements. Following oropharyngeal lidocaine anaesthesia, deep sedation was induced using fentanyl and remimazolam. Thereafter lidocaine was instilled into the larynx, trachea, and main bronchi using a flexible bronchoscope with a spray catheter. Finally, either an uncuffed endotracheal tube (Case 1) or a rigid bronchoscope (Case 2) was inserted, and advanced bronchoscopic procedures, such as cryobiopsy and stent insertion, were successfully performed without a ventilator or an anesthesiologist. Our novel technique is expected to facilitate the easier and adequate performance of advanced high-level bronchoscopic procedures by pulmonologists, even in resource-limited settings.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":"12 9","pages":"e70017"},"PeriodicalIF":0.8,"publicationDate":"2024-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11381311/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142298222","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}
Werner's syndrome is a rare progressive disorder that is characterized by a variety of clinical manifestations which mimic features of advanced ageing. Malignancy is one of the most problematic complications of Werner's syndrome. Lung cancer associated with Werner's syndrome is rare. A 54-year-old woman with Werner's syndrome was referred to our department because an abnormal shadow had been detected on routine chest radiography. Chest computed tomography revealed an abnormal nodule in the left upper lobe. Bronchoscopic examination revealed the presence of squamous cell carcinoma. Other imaging studies showed no metastatic lesions; therefore, the patient was diagnosed with stage IA3 squamous cell carcinoma. She underwent left upper lobectomy and lymph node dissection without major complications, and no recurrence was found for 2 years postoperatively.
{"title":"Surgical treatment of lung cancer associated with Werner's syndrome: A case report and review of the literature.","authors":"Fumihiro Ishibashi, Joji Horio, Kaori Tachibana, Jiro Terada, Kiyoshi Shibuya","doi":"10.1002/rcr2.70018","DOIUrl":"https://doi.org/10.1002/rcr2.70018","url":null,"abstract":"<p><p>Werner's syndrome is a rare progressive disorder that is characterized by a variety of clinical manifestations which mimic features of advanced ageing. Malignancy is one of the most problematic complications of Werner's syndrome. Lung cancer associated with Werner's syndrome is rare. A 54-year-old woman with Werner's syndrome was referred to our department because an abnormal shadow had been detected on routine chest radiography. Chest computed tomography revealed an abnormal nodule in the left upper lobe. Bronchoscopic examination revealed the presence of squamous cell carcinoma. Other imaging studies showed no metastatic lesions; therefore, the patient was diagnosed with stage IA3 squamous cell carcinoma. She underwent left upper lobectomy and lymph node dissection without major complications, and no recurrence was found for 2 years postoperatively.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":"12 9","pages":"e70018"},"PeriodicalIF":0.8,"publicationDate":"2024-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11381315/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142298228","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}
Pub Date : 2024-09-08eCollection Date: 2024-09-01DOI: 10.1002/rcr2.70023
Atsuhiko Sunaga, Takuya Inoue
Filgotinib, a janus kinase 1 (JAK1) inhibitor, is used in the treatment of rheumatoid arthritis (RA). RA-associated interstitial lung disease (RA-ILD) is a severe RA complication with no established effective treatment. We report the case of a patient with RA-ILD successfully treated with filgotinib. A 46-year-old woman with RA and RA-ILD, presenting with a non-specific interstitial pneumonia pattern, was refractory to abatacept and prednisolone but responded to filgotinib. Both arthritis and RA-ILD improved significantly, and the patient remained in remission for over 12 months. Basic research indicates that JAK1 plays a role in the cytokine signal transduction in ILD; however, there are no clinical reports on the efficacy of filgotinib in RA-ILD. This case suggests filgotinib as a potential treatment for patients with RA-ILD, particularly in the early stages of this disease.
{"title":"Successful treatment of rheumatoid arthritis-associated interstitial lung disease with filgotinib: A case report on janus kinase 1 inhibition.","authors":"Atsuhiko Sunaga, Takuya Inoue","doi":"10.1002/rcr2.70023","DOIUrl":"https://doi.org/10.1002/rcr2.70023","url":null,"abstract":"<p><p>Filgotinib, a janus kinase 1 (JAK1) inhibitor, is used in the treatment of rheumatoid arthritis (RA). RA-associated interstitial lung disease (RA-ILD) is a severe RA complication with no established effective treatment. We report the case of a patient with RA-ILD successfully treated with filgotinib. A 46-year-old woman with RA and RA-ILD, presenting with a non-specific interstitial pneumonia pattern, was refractory to abatacept and prednisolone but responded to filgotinib. Both arthritis and RA-ILD improved significantly, and the patient remained in remission for over 12 months. Basic research indicates that JAK1 plays a role in the cytokine signal transduction in ILD; however, there are no clinical reports on the efficacy of filgotinib in RA-ILD. This case suggests filgotinib as a potential treatment for patients with RA-ILD, particularly in the early stages of this disease.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":"12 9","pages":"e70023"},"PeriodicalIF":0.8,"publicationDate":"2024-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11381312/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142298227","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}
Pub Date : 2024-09-08eCollection Date: 2024-09-01DOI: 10.1002/rcr2.70020
Sushil Agwan, Lai-Ying Zhang, Thomas Baker, Michael Lane, David Godbolt, John A Mackintosh
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a rare and recently identified disease resulting from a somatic mutation in the X-linked UBA1 gene in cells of myeloid lineage. It can present in a myriad of ways with the potential to affect various organ systems, including the lungs. VEXAS is usually steroid responsive, but no strong data exists for the use of a steroid-sparing agent. There is limited emerging evidence for haematopoietic stem cell transplantation in a select number of cases. Regardless, prognosis for this condition is poor and a treatment algorithm remains a priority. Herein, we present a case of VEXAS that came to attention with discovery of a relatively asymptomatic interstitial lung disease and led to recurrent febrile episodes with evolving multi-organ involvement.
VEXAS(空泡、E1 酶、X-连锁、自体发炎、体细胞)综合征是一种罕见的、最近才发现的疾病,是由于髓系细胞中的 X 连锁 UBA1 基因发生体细胞突变而导致的。它的表现形式多种多样,有可能影响包括肺部在内的多个器官系统。VEXAS 通常对类固醇有反应,但目前还没有关于使用类固醇抑制剂的有力数据。在少数病例中进行造血干细胞移植的证据有限。无论如何,这种疾病的预后很差,治疗算法仍是当务之急。在此,我们介绍了一例VEXAS病例,该病例因发现相对无症状的间质性肺部疾病而引起关注,并导致反复发热和多器官受累。
{"title":"A vexing case of a 73-year-old man with fevers, orbital cellulitis, and asymptomatic interstitial lung disease.","authors":"Sushil Agwan, Lai-Ying Zhang, Thomas Baker, Michael Lane, David Godbolt, John A Mackintosh","doi":"10.1002/rcr2.70020","DOIUrl":"https://doi.org/10.1002/rcr2.70020","url":null,"abstract":"<p><p>VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a rare and recently identified disease resulting from a somatic mutation in the X-linked UBA1 gene in cells of myeloid lineage. It can present in a myriad of ways with the potential to affect various organ systems, including the lungs. VEXAS is usually steroid responsive, but no strong data exists for the use of a steroid-sparing agent. There is limited emerging evidence for haematopoietic stem cell transplantation in a select number of cases. Regardless, prognosis for this condition is poor and a treatment algorithm remains a priority. Herein, we present a case of VEXAS that came to attention with discovery of a relatively asymptomatic interstitial lung disease and led to recurrent febrile episodes with evolving multi-organ involvement.</p>","PeriodicalId":45846,"journal":{"name":"Respirology Case Reports","volume":"12 9","pages":"e70020"},"PeriodicalIF":0.8,"publicationDate":"2024-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11381310/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142298216","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}