TY - JOUR T1 - Clinical features of four children with pulmonary alveolar proteinosis JF - European Respiratory Journal JO - Eur Respir J VL - 44 IS - Suppl 58 SP - P3780 AU - Nagehan Emiralioglu AU - Ebru Yalçin AU - Deniz Dogru Ersöz AU - Ugur Özçelik AU - Aydin Erden AU - Peter Lohse AU - Matthias Griese AU - Nural Kiper Y1 - 2014/09/01 UR - http://erj.ersjournals.com/content/44/Suppl_58/P3780.abstract N2 - Background:Pulmonary alveolar proteinosis(PAP)is a rare respiratory disease characterized by accumulation of phospholipids and surfactant proteins within the alveolarlumen.The clinical course is variable ranging from spontaneous improvement to respiratory insufficiency.Removal of the lipoproteinic material by whole lung lavage(WLL) can be an effective treatment for severe cases.Cases:Here we present the clinical,radiological and pathological features of four children with PAP.All presented with cough,dyspnea was diagnosed at ages of six months,four,six and fourteen years.Chest X-ray and CT showed diffuse homogenous patterns of groundglass opacity."Crazy paving appearance" was observed in two of the patients.Clinical diagnosis was made by demonstrating PASpositive material in bronchoalveolar lavage.Mutational analysis demonstrated GMCSFRαsubunit deficiency in two subjects investigated.One patient had a homozygous deletion of exons2-13of theCSF2RA gene,the other patient had a homozygous G→A donor splice site mutation at position +1relativeto the exon12/intron12 border.Bilateral partial lung lavage was done after the diagnosis.One patient died dueto respiratory insufficiency at age of 13months.Two of the patients need yearly lung lavage.The child with ΔEx2-13 needs lung lavage nearly every two months.Conclusion:PAP is a rare disease in children which can progress to fatal respiratory insufficiency.Bilateral infiltrates are typically present on chest radiograph and high-resolution computed tomography reveals diffuse ground-glass opacities,characteristic "crazy paving" pattern.By WLL, progression of the disease maybe inhibited in some patients or in others the disease may progresses to chronic respiratory failure. ER -