Arıkan-Ayyıldız Zeynep, Caglayan-Sozmen Sule, Isık Sakine, Deterding Robin, Dishop Megan K, Couderc Remy, Epaud Ralph, Louha Malek, Uzuner Nevin
Faculty of Medicine, Department of Pediatric Allergy and Pulmonology, Dokuz Eylul University, Izmir, Turkey.
Pediatr Pulmonol. 2014 Mar;49(3):E112-5. doi: 10.1002/ppul.22976. Epub 2013 Dec 17.
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.
