RT Book, Section
A1 Fitzpatrick, Meghan E.
A1 Prendergast, Niall T.
A1 Rivera-Lebron, Belinda
A2 Papadakis, Maxine A.
A2 McPhee, Stephen J.
A2 Rabow, Michael W.
A2 McQuaid, Kenneth R.
SR Print(0)
ID 1193145939
T1 Cystic Fibrosis
T2 Current Medical Diagnosis & Treatment 2023
YR 2023
FD 2023
PB McGraw-Hill Education
PP New York, NY
SN 9781264687343
LK accessmedicine.mhmedical.com/content.aspx?aid=1193145939
RD 2024/04/18
AB ESSENTIALS  OF  DIAGNOSISAutosomal  recessive  disorder.Pulmonary  disease:  chronic  or  recurrent  productive  cough,  dyspnea,  and  wheezing;  recurrent  airway  infections  or  chronic  colonization  of  the  airways  with  H  influenzae,  P  aeruginosa,  S  aureus,  or  Burkholderia  cenocepacia;  bronchiectasis  and  scarring  on  chest  radiographs;  airflow  obstruction  on  spirometry.Extrapulmonary  disease:  sinus  disease  (chronic  sinusitis  and  nasal  polyposis);  GI  disease  (pancreatic  insufficiency,  recurrent  pancreatitis,  hepatobiliary  disease,  meconium  ileus,  and  distal  intestinal  obstruction);  genitourinary  problems  (absent  vas  deferens  and  male  infertility).Diagnosis:  sweat  chloride  concentration  >  60  mEq/L  on  two  occasions;  or  presence  of  two  disease-causing  mutations  in  the  cystic  fibrosis  transmembrane  conductance  regulator  (CFTR)  gene;  or  sweat  chloride  concentration  30–59  mEq/L  plus  one  disease-causing  mutation  in  CFTR  gene.