Cystic fibrosis

Cystic fibrosis

. , , . , . 1:5000 : 1:2500

1:250

1500 F508 W1282X

7 Cystic Fibrosis Transmembrane Regulator CFTR CAMP (regulated chloride channel) , epithelial sodium channel

4 , - NaCl . . -CFTR . - : CFTR .

:

CFTR

,

("") 6 :

: , , .: , , , , : , , clubbing,

: meconium ileus - 15-20% ( ) , , , ,

(- ): (FTT) ADEK : ,

(Intussuseption)

: ( ) ( , )

: - 95% ( !!)

: .

D, , . . CF . , CF 40.

9 - : 50-100 " 60meq/L - 40-60 meq/L - , , -30 - Immunoreactive Trypsinogen ( ) - 90%

(neonatal screening) , . , , -CF . ((IRT/DNA IRT (immunoreactive trypsin) . ( IV-V ) , CFTR 17.

, , . .10

CF . CF CF . . , , , , . -CF , .

, , . . -25 1985 -38 -2007 CF 50 . .