Association of pulmonary alveolar proteinosis and fibrosis: patient with GATA2 deficiency. Issue 5 (20th October 2016)

• Record Type: Journal Article
• Authors: Ballerie, Alice; Nimubona, Stanislas; Meunier, Catherine; Gutierrez, Francisco Llamas; Desrues, Benoît; Delaval, Philippe; Jouneau, Stéphane
• Is Part Of: European respiratory journal. Volume 48:Issue 5(2016)
• Page Start: 1510
• Page End: 1514
• Publication Date: 2016-10-20
• Subjects: Respiratory organs -- Diseases -- Periodicals; Respiration -- Periodicals; 616.2
• DOI: 10.1183/13993003.00252-2016
• Languages: English
• ISSNs: 0903-1936

Abstract

Pulmonary alveolar proteinosis (PAP) is a rare syndrome characterised by an abnormal accumulation of surfactant proteins in pulmonary alveoli which impairs gas exchange [1]. PAP is classified into three groups: autoimmune PAP (aPAP), defined by the presence of anti-granulocyte-macrophage colony-stimulating factor (GM-CSF) autoantibodies, secondary PAP (sPAP) and genetic PAP. Haematological diseases are the most common causes of sPAP, particularly myelodysplastic syndrome (MDS) [1, 2]. The diagnosis of PAP is based on a chest computed tomography (CT) scan, which demonstrates a crazy-paving pattern, and a typical positive periodic acid–Schiff (PAS) staining of bronchoalveolar lavage (BAL) [3]. Nowadays, a surgical lung biopsy is seldom needed to diagnose PAP, except for atypical presentation as in the case described below with concomitant pulmonary fibrosis and sPAP in a patient with GATA2 (GATA binding protein 2) deficiency. Lymphoedema, myelodysplasia, fibrosis and pulmonary alveolar proteinosis complicating a novel GATA2 mutation http://ow.ly/RHci303h8ks