Primary ciliary dyskinesia presenting with spontaneous pneumothorax: Case report and review of the literature
Background: Primary ciliary dyskinesia (PCD) is an autosomal recessive heterogeneous group of conditions with variable clinical findings. Case presentation: A 36-year-old nonsmoking Chinese man present to the emergency department of our hospital with acute-onset breathlessness and sudden-onset left-...
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| Format: | Article |
| Language: | English |
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Elsevier
2017-01-01
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| Series: | Respiratory Medicine Case Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S221300711730059X |
| _version_ | 1819151479514071040 |
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| author | Jia Hou, MD, PhD Yanan Zhang, MD Ri Gong, MD Xiwei Zheng, MD Xia Yang, MD |
| author_facet | Jia Hou, MD, PhD Yanan Zhang, MD Ri Gong, MD Xiwei Zheng, MD Xia Yang, MD |
| author_sort | Jia Hou, MD, PhD |
| collection | DOAJ |
| description | Background: Primary ciliary dyskinesia (PCD) is an autosomal recessive heterogeneous group of conditions with variable clinical findings.
Case presentation: A 36-year-old nonsmoking Chinese man present to the emergency department of our hospital with acute-onset breathlessness and sudden-onset left-sided chest pain. The patient had 6 years primary infertility and suffered from recurrent episodes of respiratory tract infections since childhood. Chest X-ray was performed, which showed a left-sided pneumothorax with lung collapse. His conditions improved in clinical symptoms after 3 days of closed thoracic drainage. Radiographic findings after lung recruitment revealed bronchiectasis and bronchiolitis but no situs inversus. Paranasal sinus computed tomography (CT) showed maxillary sinusitis and ethmoid sinusitis. Pulmonary function tests demonstrated severe obstructive ventilation functional impairment. Bronchial mucosal cilia showed the absence of both outer and inner dynein arms of the microtubules (ODA and IDA). A culture of bronchoalveolar lavage fluid was positive for Pseudomonas aeruginosa. His clinical symptoms and CT images showed improvement after 1 month of treatment. A literature review revealed that few patients are diagnosed with PCD complicated with spontaneous pneumothorax. Within one year of follow-up, the patient showed good responses to local ICS+ LA beta2 agonist combined with oral carbocistein.
Conclusions: Pneumothorax might be one of the complications of the PCD. Combination therapy including ICS+ LA beta2 agonist and carbocistein could be a potential therapy to reduce the frequency of acute exacerbations and delay progression of PCD. |
| first_indexed | 2024-12-22T14:34:03Z |
| format | Article |
| id | doaj.art-bcd38a5f076642ba88b182ef8ceb9060 |
| institution | Directory Open Access Journal |
| issn | 2213-0071 |
| language | English |
| last_indexed | 2024-12-22T14:34:03Z |
| publishDate | 2017-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Respiratory Medicine Case Reports |
| spelling | doaj.art-bcd38a5f076642ba88b182ef8ceb90602022-12-21T18:22:40ZengElsevierRespiratory Medicine Case Reports2213-00712017-01-0121C16717010.1016/j.rmcr.2017.05.006Primary ciliary dyskinesia presenting with spontaneous pneumothorax: Case report and review of the literatureJia Hou, MD, PhD0Yanan Zhang, MD1Ri Gong, MD2Xiwei Zheng, MD3Xia Yang, MD4Department of Respiratory and Critical Care Medicine, General Hospital of Ningxia Medical University, Ningxia, ChinaDepartment of Respiratory and Critical Care Medicine, General Hospital of Ningxia Medical University, Ningxia, ChinaRadiology Department, General Hospital of Ningxia Medical University, Ningxia, ChinaDepartment of Respiratory and Critical Care Medicine, General Hospital of Ningxia Medical University, Ningxia, ChinaDepartment of Respiratory and Critical Care Medicine, General Hospital of Ningxia Medical University, Ningxia, ChinaBackground: Primary ciliary dyskinesia (PCD) is an autosomal recessive heterogeneous group of conditions with variable clinical findings. Case presentation: A 36-year-old nonsmoking Chinese man present to the emergency department of our hospital with acute-onset breathlessness and sudden-onset left-sided chest pain. The patient had 6 years primary infertility and suffered from recurrent episodes of respiratory tract infections since childhood. Chest X-ray was performed, which showed a left-sided pneumothorax with lung collapse. His conditions improved in clinical symptoms after 3 days of closed thoracic drainage. Radiographic findings after lung recruitment revealed bronchiectasis and bronchiolitis but no situs inversus. Paranasal sinus computed tomography (CT) showed maxillary sinusitis and ethmoid sinusitis. Pulmonary function tests demonstrated severe obstructive ventilation functional impairment. Bronchial mucosal cilia showed the absence of both outer and inner dynein arms of the microtubules (ODA and IDA). A culture of bronchoalveolar lavage fluid was positive for Pseudomonas aeruginosa. His clinical symptoms and CT images showed improvement after 1 month of treatment. A literature review revealed that few patients are diagnosed with PCD complicated with spontaneous pneumothorax. Within one year of follow-up, the patient showed good responses to local ICS+ LA beta2 agonist combined with oral carbocistein. Conclusions: Pneumothorax might be one of the complications of the PCD. Combination therapy including ICS+ LA beta2 agonist and carbocistein could be a potential therapy to reduce the frequency of acute exacerbations and delay progression of PCD.http://www.sciencedirect.com/science/article/pii/S221300711730059X |
| spellingShingle | Jia Hou, MD, PhD Yanan Zhang, MD Ri Gong, MD Xiwei Zheng, MD Xia Yang, MD Primary ciliary dyskinesia presenting with spontaneous pneumothorax: Case report and review of the literature Respiratory Medicine Case Reports |
| title | Primary ciliary dyskinesia presenting with spontaneous pneumothorax: Case report and review of the literature |
| title_full | Primary ciliary dyskinesia presenting with spontaneous pneumothorax: Case report and review of the literature |
| title_fullStr | Primary ciliary dyskinesia presenting with spontaneous pneumothorax: Case report and review of the literature |
| title_full_unstemmed | Primary ciliary dyskinesia presenting with spontaneous pneumothorax: Case report and review of the literature |
| title_short | Primary ciliary dyskinesia presenting with spontaneous pneumothorax: Case report and review of the literature |
| title_sort | primary ciliary dyskinesia presenting with spontaneous pneumothorax case report and review of the literature |
| url | http://www.sciencedirect.com/science/article/pii/S221300711730059X |
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