RT Book, Section
A1 Whitsett, Jeffrey A.
A1 Nogee, Lawrence M.
A2 Valle, David L.
A2 Antonarakis, Stylianos
A2 Ballabio, Andrea
A2 Beaudet, Arthur L.
A2 Mitchell, Grant A.
SR Print(0)
ID 1181477435
T1 Hereditary Surfactant Protein B Deficiency
T2 The Online Metabolic and Molecular Bases of Inherited Disease
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071459969
LK ommbid.mhmedical.com/content.aspx?aid=1181477435
RD 2024/04/23
AB Postnatal  adaptation  to  air  breathing  necessitates  the  reduction  of  surface  tension  at  the  air-liquid  interface  in  the  alveoli  of  the  lung.  The  rapid  spreading  and  stability  of  phospholipids  in  pulmonary  surfactant  are  mediated  by  the  activity  of  two  hydrophobic  proteins,  surfactant  proteins  B  and  C  (SP-B  and  -C).  Deficiency  of  surfactant  proteins  is  associated  with  respiratory  distress  syndrome  (RDS)  in  premature  newborn  infants,  and  in  adults  with  adult  respiratory  distress  syndrome  (ARDS).  While  most  surfactant  deficiencies  are  secondary  to  prematurity  or  lung  injury  and  infection,  hereditary  surfactant  protein  B  deficiency,  caused  by  mutations  in  the  surfactant  protein  B  gene,  was  recently  identified  as  an  inherited  cause  of  respiratory  failure  in  full-term  newborn  infants.  This  chapter  describes  the  pathophysiology  and  molecular  biology  of  hereditary  SP-B  deficiency.