Homozygous mutation in ABCA3 Lipid-Transporter defect (EXON 9) and low level of surfactant protein C
J Pöschl, P Ruef, M Griese, P Lohse, C Aslanidis, S Rahman, M Kichi, A Al baridi, H Pappapil, L Koch · Klinische Pädiatrie · 2010 · Heft 06
Bibliografische Angaben
Zusammenfassung
Background: Persistent ventilator dependency with 40% to 100% FiO2 in a female baby born at term now seven months old. Objective: Due to ongoing tachypnoe, CPAP and oxygen dependency since birth and CT scan appearance a congenital defect in surfactant synthesis was evaluated. Methods: Bronchoalveolar lavage: Surfactant protein (SP-) C was reduced to about 1/7 of the amount normally present in relation to the content of SP-B and was thus severely reduced. In the genetic analysis no mutations in SFTPB, SFTPC and CSF2RA genes were found. However, a homozygous loss-of-function mutation in the coding region of the li…
