cystic fibrosis דיון קליני
TRANSCRIPT
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 . .