RT Book, Section
A1 Trapnell, Bruce C.
A1 Suzuki, Takuji
A2 Grippi, Michael A.
A2 Elias, Jack A.
A2 Fishman, Jay A.
A2 Kotloff, Robert M.
A2 Pack, Allan I.
A2 Senior, Robert M.
A2 Siegel, Mark D.
SR Print(0)
ID 1122362135
T1 Pulmonary Alveolar Proteinosis Syndrome
T2 Fishman's Pulmonary Diseases and Disorders, 5e
YR 2015
FD 2015
PB McGraw-Hill Education
PP New York, NY
SN 978-0-07-179672-9
LK accessmedicine.mhmedical.com/content.aspx?aid=1122362135
RD 2023/01/29
AB Pulmonary  alveolar  proteinosis  (PAP)  syndrome  is  characterized  by  the  accumulation  of  surfactant  in  alveoli  and  terminal  airways  resulting  in  hypoxemic  respiratory  failure.1  This  fascinating  syndrome  continues  to  serve  as  a  paradigm  for  disease  discovery  and  development  due  to  a  globalized  collaborative  network,  employment  of  diverse  clinical,  basic,  and  translational  research  approaches,  and  active  patient  involvement.  While  PAP  occurs  in  many  clinical  settings  including  recently  identified  genetic  etiologies,  its  molecular  basis  is  now  known  in  more  than  90%  of  cases,  and  the  molecular  basis  of  the  role  of  granulocyte  macrophage  colony–stimulating  factor  (GM-CSF)  in  surfactant  homeostasis  has  been  defined.  Diseases  associated  with  PAP  can  be  grouped  into  primary  PAP,  secondary  PAP,  and  congenital  PAP  based  primarily  on  pathogenesis  involved.  Primary  PAP  is  caused  by  impairment  of  GM-CSF–dependent  surfactant  clearance  by  alveolar  macrophages  and  accounts  for  approximately  90%  of  all  cases.2  Secondary  PAP  occurs  as  a  consequence  of  a  comorbid  condition  that  impair  surfactant  clearance  by  alveolar  macrophages  and  accounts  for  about  5%  of  cases.3  Congenital  PAP  is  a  clinically  distinct  and  pathogenically  heterogeneous  group  of  genetic  disorders  associated  with  the  production  of  abnormal  surfactant  and  accounts  for  about  5%  of  cases.4  Because  of  its  increased  frequency  and  greater  research  attention,  primary  PAP  will  be  the  focus  of  this  chapter  and  data  for  secondary  and  congenital  PAP  will  be  provided  where  available.