RT Book, Section
A1 Voynow, Judith A.
A1 Kelly, Andrea
A1 Szabo, Flora K.
A1 Scanlin, Thomas F.
A2 Grippi, Michael A.
A2 Antin-Ozerkis, Danielle E.
A2 Dela Cruz, Charles S.
A2 Kotloff, Robert M.
A2 Kotton, Camille Nelson
A2 Pack, Allan I.
SR Print(0)
ID 1194951470
T1 Cystic Fibrosis
T2 Fishman’s Pulmonary Diseases and Disorders, 6e
YR 2023
FD 2023
PB McGraw-Hill Education
PP New York, NY
SN 9781260473988
LK accessmedicine.mhmedical.com/content.aspx?aid=1194951470
RD 2024/04/18
AB Cystic  fibrosis  (CF)  is  an  inherited  disease  that  has  a  high  frequency  in  Caucasians.  The  disorder  affects  all  exocrine  glands,  with  symptoms  involving  the  lungs  and  pancreas  usually  dominating  the  clinical  picture.  CF  is  challenging  to  diagnose  and  manage  because  of  tremendous  variability  in  the  degree  and  pattern  of  involvement  of  organs  in  different  persons  and  the  burden  of  therapy  to  maintain  health.  This  chapter  focuses  on  the  pathophysiology  and  management  of  CF.  Our  current  understanding  of  the  genetics  and  underlying  molecular  biology  are  highlighted.  Recently,  FDA-approved,  highly  effective  oral  CFTR  modulators  have  become  available  to  most  patients.  These  new  drugs  have  markedly  improved  CFTR  function  and  clinical  outcomes  in  most  patients  with  severe  mutations.  The  prognosis  is  improving.  The  majority  of  patients  now  live  past  the  age  of  18  years,  and  the  median  predicted  age  of  survival  is  now  in  the  late  40s.  However,  complications  of  the  disorder  due  to  established  multiorgan  disease  persist  and  are  addressed  in  this  chapter.  Finally,  the  approaches  to  develop  therapies  to  correct  mutant  CFTR  in  those  patients  not  responsive  to  the  current  CFTR  modulators  will  be  described.