title: Survival of an infant with homozygous surfactant protein C (SFTPC) mutation.
abstract: 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.
authors.affiliation: Faculty of Medicine, Department of Pediatric Allergy and Pulmonology, Dokuz Eylul University, Izmir, Turkey.
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Arıkan-Ayyıldız
authors.forename: Sule
authors.initials: S
authors.lastname: Caglayan-Sozmen
authors.forename: Sakine
authors.initials: S
authors.lastname: Isık
authors.forename: Robin
authors.initials: R
authors.lastname: Deterding
authors.forename: Megan K
authors.initials: MK
authors.lastname: Dishop
authors.forename: Remy
authors.initials: R
authors.lastname: Couderc
authors.forename: Ralph
authors.initials: R
authors.lastname: Epaud
authors.forename: Malek
authors.initials: M
authors.lastname: Louha
authors.forename: Nevin
authors.initials: N
authors.lastname: Uzuner
mesh_terms: D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D017963:Azithromycin / Q000627:therapeutic use; D003241:Consanguinity; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D006886:Hydroxychloroquine / Q000627:therapeutic use; D007223:Infant; D008168:Lung / Q000000981:diagnostic imaging* / Q000473:pathology / Q000648:ultrastructure; D008297:Male; D008775:Methylprednisolone / Q000627:therapeutic use; D008854:Microscopy, Electron; D020125:Mutation, Missense / Q000235:genetics; D010102:Oxygen Inhalation Therapy; D010375:Pedigree; D010641:Phenotype; D011649:Pulmonary Alveolar Proteinosis / Q000175:diagnosis / Q000235:genetics*; D037721:Pulmonary Surfactant-Associated Protein C / Q000235:genetics*; D011859:Radiography; D012121:Respiration, Artificial; D012128:Respiratory Distress Syndrome / Q000235:genetics* / Q000628:therapy; D035781:Siblings; D016896:Treatment Outcome
chemical_list: D000900:Anti-Bacterial Agents; D000893:Anti-Inflammatory Agents; D037721:Pulmonary Surfactant-Associated Protein C; C489679:SFTPC protein, human; D006886:Hydroxychloroquine; D017963:Azithromycin; D008775:Methylprednisolone
keywords: SFTPC; autosomal recessive; surfactant protein C deficiency