Vered Nir1, Anat Ilivitky2, Fahed Hakim1,3, Ronen Bar Yoseph1, Michal Gur1, Hana Mandel4, Lea Bentur5,6. 1. Division of Pediatric Pulmonology, Ruth Children's Hospital, Rambam Health Care Campus, Haifa, Israel. 2. Pediatric Radiology, Ruth Children's Hospital, Rambam Health Care Campus, Haifa, Israel. 3. Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. 4. Hana Mandel, Metabolic Unit, Ruth Children's Hospital, Rambam Health Care Campus, Haifa, Israel. 5. Division of Pediatric Pulmonology, Ruth Children's Hospital, Rambam Health Care Campus, Haifa, Israel. l_bentur@rambam.health.gov.il. 6. Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. l_bentur@rambam.health.gov.il.
Abstract
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.
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.
Authors: Francis Rossignol; Marvid S Duarte Moreno; Carlos R Ferreira; Manuel Schiff; Jean-François Benoist; Manfred Boehm; Emmanuelle Bourrat; Aline Cano; Brigitte Chabrol; Claudine Cosson; José Luís Dapena Díaz; Arthur D'Harlingue; David Dimmock; Alexandra F Freeman; María Tallón García; Cheryl Garganta; Tobias Goerge; Sara S Halbach; Jan de Laffolie; Christina T Lam; Ludovic Martin; Esmeralda Martins; Andrea Meinhardt; Isabelle Melki; Amanda K Ombrello; Noémie Pérez; Dulce Quelhas; Anna Scott; Anne M Slavotinek; Ana Rita Soares; Sarah L Stein; Kira Süßmuth; Jenny Thies Journal: Genet Med Date: 2021-05-26 Impact factor: 8.822