zithromax and Pulmonary-Alveolar-Proteinosis

Lung diseases caused by surfactant protein C (SFTPC) mutations are inherited as autosomal traits with variable penetrance and severity or as sporadic disease caused by a de novo mutation on one allele. Here, we report the case of a child surviving with a homozygous surfactant protein C mutation after aggressive clinical management unlike his six siblings who died in infancy. This presentation raises the suspicion of an autosomal recessive inheritance that is discussed in this report.

Topics: Anti-Bacterial Agents; Anti-Inflammatory Agents; Azithromycin; Consanguinity; Genes, Recessive; Homozygote; Humans; Hydroxychloroquine; Infant; Lung; Male; Methylprednisolone; Microscopy, Electron; Mutation, Missense; Oxygen Inhalation Therapy; Pedigree; Phenotype; Pulmonary Alveolar Proteinosis; Pulmonary Surfactant-Associated Protein C; Radiography; Respiration, Artificial; Respiratory Distress Syndrome; Siblings; Treatment Outcome

Topics: Anti-Bacterial Agents; Anti-Inflammatory Agents; ATP-Binding Cassette Transporters; Azithromycin; Drug Therapy, Combination; Enzyme Inhibitors; Humans; Hydroxychloroquine; Infant, Newborn; Lung Diseases, Interstitial; Lung Transplantation; Male; Methylprednisolone; Pulmonary Alveolar Proteinosis; Respiration, Artificial; Respiratory Distress Syndrome, Newborn