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

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MedicoNotebook - Founder : DrShiviMudgal , Co-Founder : DrAyushGoel