Hangul Melih, Tuzuner Ahmet B, Somekh Ido, Klein Christoph, Patiroglu Turkan, Unal Ekrem, Kose Mehmet
Departments of Child Chest Diseases.
Child Diseases.
J Pediatr Hematol Oncol. 2021 May 1;43(4):e558-e560. doi: 10.1097/MPH.0000000000001951.
Type 1 plasminogen deficiency is a rare genetic disorder. Type 1 plasminogen deficiency is characterized by fibrin-rich pseudomembrane formation on mucosal surfaces, particularly the conjunctiva. Tracheobronchial tree involvement is a less common reported manifestation of type 1 plasminogen deficiency. Pseudomembranes in the tracheobronchial tree may result in respiratory compromise and ultimately fail if not recognized and treated. Currently, there is no specific replacement therapy approved for the treatment of congenital plasminogen deficiency. In the present paper, we report that type 1 plasminogen deficiency with novel frameshift mutation and pulmonary involvement was treated initially with systemic fresh frozen plasma followed by pulmonary lavage with fresh frozen plasma and tissue plasminogen activator.
1型纤溶酶原缺乏症是一种罕见的遗传性疾病。1型纤溶酶原缺乏症的特征是在粘膜表面，特别是结膜上形成富含纤维蛋白的假膜。气管支气管树受累是1型纤溶酶原缺乏症较少见的报道表现。气管支气管树中的假膜可能导致呼吸功能不全，如果不被识别和治疗最终可能会导致呼吸衰竭。目前，尚无批准用于治疗先天性纤溶酶原缺乏症的特异性替代疗法。在本文中，我们报告了一名具有新型移码突变和肺部受累的1型纤溶酶原缺乏症患者，最初接受了全身性新鲜冷冻血浆治疗，随后用新鲜冷冻血浆和组织纤溶酶原激活剂进行了肺灌洗。
