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Pulmonary manifestations of prolidase deficiency
Author(s) -
Nir Vered,
Ilivitky Anat,
Hakim Fahed,
Yoseph Ronen Bar,
Gur Michal,
Mandel Hana,
Bentur Lea
Publication year - 2016
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.23435
Subject(s) - medicine , bronchiectasis , lung , atelectasis , respiratory disease , respiratory system , differential diagnosis , cystic fibrosis , respiratory failure , pulmonary function testing , gastroenterology , surgery , pathology
Summary Background Prolidase deficiency is a rare autosomal recessive disease, in which pulmonary manifestations have been sporadically reported. Aims 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. Results 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. Conclusions 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.