Features of Cystic Fibrosis

 "CF PANCREAS"

•  Chronic respiratory diseases occur*
•  Failure to thrive, poor weight gain
•  Pancreatic exocrine and endocrine insufficiency, Pulmozyme as treatment
•  Autosomal recessive inheritance, metabolic Alkalosis
•  Neonatal intestinal obstruction, meconium ileus, intussusception, volvulus
•  Clubbing of fingers, Cholestasis, biliary Cirrhosis, ...**
•  Rectal prolapse
•  Electrolyte excess in sweat like sweat Na+ and Cl-
•  Azoospermia and infertility
•  Staph aureus and pSeudomonas in sputum, Salty sweat

*Chronic respiratory diseases include recurrent respiratory tract infections, pneumonia, pneumothorax, bronchiectasis, haemoptysis, chronic sinusitis, nasal polyps etc.

** CFTR-cAMP mediated chloride channelopathy, Chloride in sweat >40 mEq/L is suggestive of CF, Creon (pancrelipase) is used in treatment

"Woe is the child who tastes salty from a kiss on

  the brow for he is cursed and soon must die'' 

-European folklore

Did you know?

Cystic Fibrosis is an incurable disease that is inherited as an autosomal recessive disorder caused by a defect in CFTR Protein

CFTR gene therapy may help to correct defective CFTR Protein

Cystic Fibrosis and 65 Roses: The phrase "65 Roses" rhymes with cystic fibrosis. It came into relevance when a 4 year old child, Richard heard his mother saying "Cystic Fibrosis" but heard it as "65 Roses". The phrase is now a registered trademark of the Cystic Fibrosis Foundation, which has also adopted the rose as its symbol.