Association of pulmonary alveolar proteinosis and fibrosis: patient with GATA2 deficiency

Authors:
Publisher website
Google Scholar
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 The authors thank Marie de Tayrac (Service de génétique moléculaire et génomique, hôpital Pontchaillou and UMR 6290 Institut de génétique et développement, Université Rennes 1, Rennes, France) for her help with molecular genetic databases.

This publication has 10 references indexed in Scilit: