1 Cystic Fibrosis

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Cystic Fibrosis

  • Mutation in CFTR gene located on Chromosome 7
  • Delta F 508 is the most common mutation (66-70%) seen in CFTR gene. (Though in India, this mutation is seen in 25-30% cases)
  • It is considered most common lethal disorder in caucasians.

Normally : CFTR gene ---> Cl channel --- Cl ions out of cell.

Mutation : Cl remains inside. Thus

  1. Mucous comes
  2. Recurrent infections {Most common : Early - Staph ; Late - Pseudomonas (mucoid) Pneumonia , Burkholderia cepacea }
  3. Pancreatic insufficiency - (in Adutls - due to gall stone , alcohol ) , (In Child - due to Cystic Fibrosis)
  4. Meconium Ileus
  5. Azoospermia

Diagnosis :
  • Sweat Cl > 60meq/L on 2 occasions (Normally < 40 )
  • Nasal electrode potential difference (diagnostic) (Not in India)
  • CFTR mutation
  • GER - Barium swallow
  • Tc based Nuclear Scan
  • Lung function test : Increased RV/TLC



MedicoNotebook - Founder : DrShiviMudgal , Co-Founder : DrAyushGoel

1 comment:

  1. There was a question in AI 2011 where they had tricked using non mucoid word with pseudomonas. Nice article. Thanks

    ReplyDelete

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