Hermansky-Pudlak syndrome-associated pneumothorax with rapid progression of respiratory failure: a case report
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CASE REPORT
Open Access
Hermansky-Pudlak syndrome-associated pneumothorax with rapid progression of respiratory failure: a case report Yukari Kato1, Motoyasu Kato1* , Hiroaki Ihara1, Eri Hayakawa1, Kohei Shibayama1, Keita Miura1, Tomoko Yamada1, Yoichiro Mitsuishi1, Takehito Shukuya1, Jun Ito1, Takeshi Matsunaga2, Tadashi Sato1, Kenji Suzuki2 and Kazuhisa Takahashi1
Abstract Background: Hermansky-Pudlak syndrome (HPS) is an extremely rare disease with pulmonary fibrosis (PF), oculocutaneous albinism, induced platelet dysfunction, and granulomatous colitis. Although patients with HPSassociated PF (HPS-PF) often receive treatment with anti-fibrotic agents, including pirfenidone, many HPS-PF cases are progressive. The development of pneumothorax is known to be rare in HPS-PF. Pneumothorax development is generally important for prognosis in patients with interstitial pneumonia. However, there are few reports regarding the development of pneumothorax in patients with HPS-PF. Case presentation: A 50-year-old Japanese man with chestnut hair, white skin, and light brown squint eyes visited our hospital for interstitial pneumonia examination. Chest high-resolution computed tomography (HRCT) demonstrated diffuse bilateral reticular opacities along the bronchovascular bundles and traction bronchiectasis predominantly in the upper lung fields. He was definitively diagnosed with HPS because genetic analysis showed that he had a homozygous mutation, c.398 + 5G > A, in the HPS-1 gene. After diagnosis with HPS-PF, he initiated home oxygen therapy due to gradually progressive hypoxemia. Three months after the HPS-PF diagnosis, the patient suddenly developed severe chest pain and dyspnea and was admitted to our hospital on emergency. He was diagnosed with pneumothorax by chest radiological findings. He immediately received chest drainage; however, his pneumothorax did not improve. Therefore, he underwent videoassisted surgery by thoracic surgeons. The leak point was not detected, but multiple bullae were found, mainly in the upper lung lobes. Thus, the surgeons did not perform bullectomy and only covered the apical areas. Fifteen days after the surgery, the patient developed high fever and dyspnea with a new diffuse reticular shadow found through HRCT. We first initiated the patient on broad-spectrum antibiotics; however, the symptoms and radiological findings worsened. Therefore, we started treatment with pirfenidone for inhibition of PF progression. The patient redeveloped pneumothorax with severe respiratory failure. Although he re-underwent chest drainage, he died of progressive respiratory failure. (Continued on next page)
* Correspondence: [email protected] 1 Department of Respiratory Medicine, Juntendo University Graduate School of Medicine, 3-1-3 Hongo, Bunkyo-Ku, Tokyo 113-8431, Japan Full list of author information is available at the end of the article © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation,
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