CYSTIC FIBROSIS

04 Jun 2019

ABSTRACT –

Cystic Fibrosis (CF) is an inherited condition which affects the cells of secretory glands that produce mucus, sweat and digestive juices and causes severe damage to lungs, digestive system and other organs. Secreted fluids act as a lubricant which is normally thin and slippery but defective genes make the secretion sticky and thick to obstruct tubes, ducts and passageways, especially in the lungs and pancreas. Blockages in the lungs or airways can lead to lung infection and other breathing problems. CF causes blockage in intestine and pancreas which in turn make the organs difficult to secret enzymes to digest the food.

CAUSES –

  • Defective genes received from both the parents, however if it comes from one parent, the child becomes the carrier
  • Mutated genes affect protein which controls the flow of salt and water outside the cells
  • Thick and sticky mucus in respiratory, digestive and reproductive system

SIGNS AND SYMPTOMS –

  1. Respiratory:
    • Breathlessness
    • Wheezing
    • Continuous cough with thick mucus
    • Lung infections
    • Stuffy nose
  2. Digestive
    • Severe constipation
    • Foul smell with greasy stools
    • Poor weight gain
    • Malnutrition
    • Intestinal blockage
  3. Skin becomes salty in taste
  4. Infertility (especially in males)

DIAGNOSIS –

  • Screening test of newborns
  • Genetic test to diagnose defective genes
  • Blood test
  • Sweat test

TREATMENT –

Cystic Fibrosis cannot get completely cured but treatment can ease the symptoms and reduce complications.

  • Medications
  • Physiotherapy for chest
  • Vest therapy
  • Pulmonary Rehabilitation
  • Surgical and other procedures like removal of nasal polyp, oxygen therapy, endoscopy,bowel surgery etc.

RISK FACTORS –

  • Family history
  • Race: It is most common in white people of North Europe

PREVENTIONS-

Lab test can be performed for both the partners to see the risk of Cystic Fibrosis to their baby.

EPIDEMIOLOGY –

Approximately 70,000 people suffers from Cystic Fibrosis worldwide in a year.

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