Survival of an infant with homozygous surfactant protein C (SFTPC) mutation
Identifieur interne : 000143 ( Istex/Checkpoint ); précédent : 000142; suivant : 000144Survival of an infant with homozygous surfactant protein C (SFTPC) mutation
Auteurs : Zeynep Ar Kan-Ayy Ld Z [Turquie] ; Sule Caglayan-Sozmen [Turquie] ; Sakine Is K [Turquie] ; Robin Deterding ; Megan K. Dishop ; Remy Couderc [France] ; Ralph Epaud [France] ; Malek Louha [France] ; Nevin Uzuner [Turquie]Source :
- Pediatric Pulmonology [ 8755-6863 ] ; 2014-03.
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 inheritence that is discussed in this report. Pediatr Pulmonol. 2014; 49:E112–E115. © 2013 Wiley Periodicals, Inc.
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DOI: 10.1002/ppul.22976
Affiliations:
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