Nir Vered, Ilivitky Anat, Hakim Fahed, Yoseph Ronen Bar, Gur Michal, Mandel Hana, Bentur Lea
Division of Pediatric Pulmonology, Ruth Children's Hospital, Rambam Health Care Campus, Haifa, Israel.
Pediatric Radiology, Ruth Children's Hospital, Rambam Health Care Campus, Haifa, Israel.
Pediatr Pulmonol. 2016 Nov;51(11):1229-1233. doi: 10.1002/ppul.23435. Epub 2016 May 1.
Prolidase deficiency is a rare autosomal recessive disease, in which pulmonary manifestations have been sporadically reported.
We have encountered two patients who presented with severe pulmonary cystic lesions leading to respiratory failure. This led us to retrospectively evaluate pulmonary involvement in patients with prolidase deficiency treated in our hospital.
Of 21 patients (including the 2 mentioned above), 12 had a history of recurrent pulmonary infections and 10 were diagnosed as having chronic lung disease. Of seven chest CT scans performed, four patients had subpleural cysts, two patients had bronchiectatic changes, and one had diffused ground glass attenuation and minor linear atelectasis. Three patients died, with all deaths being attributed to respiratory insufficiency.
Prolidase deficiency is frequently associated with various pulmonary manifestations, including extensive cystic changes that may be life endangering. The differential diagnosis of bilateral cystic changes should include prolidase deficiency, and pulmonary evaluation should be performed in patients with prolidase deficiency. Pediatr Pulmonol. 2016;51:1229-1233. © 2016 Wiley Periodicals, Inc.
脯氨酰肽酶缺乏症是一种罕见的常染色体隐性疾病，其中肺部表现已有零星报道。
我们遇到了两名出现严重肺囊性病变并导致呼吸衰竭的患者。这促使我们对我院治疗的脯氨酰肽酶缺乏症患者的肺部受累情况进行回顾性评估。
在21名患者（包括上述2名患者）中，12名有反复肺部感染史，10名被诊断患有慢性肺病。在进行的7次胸部CT扫描中，4名患者有胸膜下囊肿，2名患者有支气管扩张改变，1名有弥漫性磨玻璃影和轻微线状肺不张。3名患者死亡，所有死亡均归因于呼吸功能不全。
脯氨酰肽酶缺乏症常与各种肺部表现相关，包括可能危及生命的广泛囊性改变。双侧囊性改变的鉴别诊断应包括脯氨酰肽酶缺乏症，并且应对脯氨酰肽酶缺乏症患者进行肺部评估。《儿科肺病学》。2016年；51:1229 - 1233。©2016威利期刊公司。
