RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164079431
T1 Mucoviscidosis
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164079431
RD 2024/04/20
AB Cystic  fibrosis  is  a  common  life-limiting  autosomal  recessive  genetic  disorder,  with  highest  prevalence  in  Europe,  North  America,  and  Australia.  It  is  a  congenital  multiorgan  disease  affecting  mainly  the  lungs,  liver,  and  pancreas.  Frequent  lung  infections,  hemoptysis,  intolerance  to  exercise,  presence  of  clubbing  fingers  suggesting  pulmonary  hypertension,  rectal  prolapse,  and  nasal  polyps  complete  the  clinical  presentation.  The  mortality  is  mostly  caused  by  bronchiectasis,  small  airways  obstruction,  and  progressive  respiratory  impairment.  Comorbidities  are  the  result  of  epithelial  cell  dysfunction  that  occurs  in  the  pancreas  (malabsorption),  liver  (biliary  cirrhosis),  sweat  glands  (heat  shock),  and  vas  deferens  (infertility).  Although  it  is  believed  a  rare  disease,  cystic  fibrosis  is  recognized  as  one  of  the  leading  genetic  disease  causing  life-shortening  symptoms.