Hereditary Pulmonary Alveolar Proteinosis in a Pediatric Patient – A Diagnostic and Therapeutic Challenge

Abstract

Abstract The abstract will be: “Pulmonary Alveolar Proteinosis (PAP) is a rare but potentially fatal respiratory disorder. The hereditary form is due to mutations affecting the GM-CSF receptor subunits. We are presenting this case report of a 3-year-old girl -who was the child of a fourth-degree consanguineous marriage- who developed Hereditary Alveolar Proteinosis. Her diagnosis was confirmed by surgical biopsy as well as whole exome sequencing (WES) genetic testing that revealed homozygous gene deletion of the CSF2RA gene (Colony Stimulating Factor 2RA). She had a favorable outcome and spontaneous resolution of her disease on follow-up.”