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.

journal_name

Pediatr Pulmonol

journal_title

Pediatric pulmonology

authors

Arıkan-Ayyıldız Z,Caglayan-Sozmen S,Isık S,Deterding R,Dishop MK,Couderc R,Epaud R,Louha M,Uzuner N

doi

10.1002/ppul.22976

subject

Has Abstract

pub_date

2014-03-01 00:00:00

pages

E112-5

issue

3

eissn

8755-6863

issn

1099-0496

journal_volume

49

pub_type

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