Cystic Fibrosis

An absomal recessive disorder which occurs due to mutation of CFTR gene mainly affecting the lungs & pane-areas.
  • Passing of motosed CFTR gere (ajstic fibrosis traramembrane conductance regulator)
  • If single mutated copy passed
  • PT both passed mutated
  • Carrier
  • Bowel obstruction in children.
  • Sinusitis presents as facial pain, fever, headache, nasal diagnose
  • Nose polyps
  • Frequent lung injections
  • Trouble breathing
  • Cystic fibrosis related diabetes due to damage to panoeas pancreatitis)
  • Osteoporosis mal absorption of calcium & vitamin D
  • Digestive problems mal absorption of Vitamin A,D,E,k
  • Steatorrhoea
  • Infertility
  • Coogulations disorders
  • Couple can get tested for CFTR gene.
  • During pregnancy testing can be performed (choriortic villus sauepling) amniocantentehsis can bed on.
  • In fetuses having Anemia with hydrops fetals due to Thalesemia or (alphathal major) or ATMin utero compatible hemahchoitic call trumsplantation (I LIHCT IUT) at 18-22 week has saved such bodies, which was unimaginable till now through the technique is new but certain has got potential to save such fetuses in future.
  • Successful in utro stemcell transplantations with stem cells is a major step in fetal medicine which opens possibilities of management of congenital, hemopoictic, metabolic and immunological disorders without chemotherapy.
  • In another recessive genetic disorder cystic fibrosis has shown some promising results in experimental animals cystic filosis is a life threatening multi-organ disease.
  • If diagnosed by ch villi sampling/Amniocentesis the couple may be given a choice of termination of the pregnancy.
  • Duchene 4 Bechers muscular dys therapy are other musculasislefal disorders where the children do not survive longer can be diagnosed pre-natal & if couple desires the pregnancy may be continued or terminated accordingly.
  • G.H. deficiency is another disorder which can be diagnosed prenatally & managed accordingly by giving regular G.H. patiently to the baby in post-natal life during the years of growth.

How is it diagnosed?

Diagnosis is done mainly by 3 methods:
  • Newborn screening: Screens for raised immune reactive trypsio.
  • Sweet testing: Confirmatory Method, apply medicine which stimulates sweating, sweet collected 8 tests for abnormal amount of sodium & chloride
  • Genetic testing

How is it treated?

  • Treatments of airway injection.
  • Good nutrition
  • Active life-style
  • Tit of airway injection by IV, inhales, oral by oxygen provision.
  • Antibiotics inhaled levofloxacin ciproflox, oz, throufian
  • Nutritional supplements vitamin A, betaconrotense, Vitamin D,E,K
  • Chest physiotherapy, massage therapy
  • Lung transplantation.

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