Survival of an Infant with Homozygous Surfactant Protein C (SFTPC) Mutation

Arikan-Ayyildiz Z., Caglayan-Sozmen S., IŞIK S., Deterding R., Dishop M. K., Couderc R., ...Daha Fazla

PEDIATRIC PULMONOLOGY, cilt.49, sa.3, 2014 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 49 Sayı: 3
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1002/ppul.22976
  • Dergi Adı: PEDIATRIC PULMONOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: autosomal recessive, SFTPC, surfactant protein C deficiency
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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 inheritence that is discussed in this report. Pediatr Pulmonol. 2014; 49:E112-E115. (c) 2013 Wiley Periodicals, Inc.