Ngeshwa, akunakwenzeka ukuvimbela i-cystic fibrosis enganeni enezakhi zofuzo ezimbili ze-CFTR eziguquliwe. Lesi sifo sivele sibe khona kusukela ekuzalweni, yize izimpawu zingavela ngokuhamba kwesikhathi.

Izithandani ezine umlando womndeni yesifo (icala le-cystic fibrosis emndenini noma ukuzalwa kwengane yokuqala ethintekile) lingaxhumana ne- a umeluleki wezofuzo ukuze wazi ubungozi bokuzala ingane enalesi sifo. Umeluleki wezofuzo angafundisa abazali ngezinketho ezahlukahlukene ezikhona zokubasiza benze isinqumo abanolwazi.

Ukuhlolwa kwabazali besikhathi esizayo. Eminyakeni yamuva nje, singabona ukuguquka kwezakhi zofuzo kubazali besikhathi esizayo, ngaphambi kokukhulelwa kwengane. Lokhu kuhlolwa kuvame ukunikezwa imibhangqwana enomlando womndeni we-cystic fibrosis (ingane yakini enalesi sifo, isibonelo). Ukuhlolwa kwenziwa kusampula yegazi noma amathe. Inhloso ukubheka ukuthi kungenzeka yini ukuguquka kwesimo kubazali, okuzobenza babe nethuba lokudlulisela lesi sifo enganeni yabo yesikhathi esizayo. Kodwa-ke, qaphela ukuthi izivivinyo zingathola kuphela u-90% wezinguquko (ngoba kunezinhlobo eziningi zokuguqulwa).

Ukuhlolwa ngaphambi kokubeletha. Uma abazali bezele ingane yokuqala ene-cystic fibrosis, bangahlomula ku-a ukuxilongwa ngaphambi kokubeletha ngokukhulelwa okulandelayo. Ukuxilongwa ngaphambi kokubeletha kungathola ukuguquka kwezakhi zofuzo ku-cystic fibrosis gene embungwini. Ukuhlolwa kuhilela ukuthatha izicubu zomzimba ngemuva kwe-10^e isonto lokukhulelwa. Uma umphumela ulungile, abashadikazi bangakhetha, ngokuya ngoshintsho, ukunqamula ukukhulelwa noma ukuqhubeka nakho.

Ukuxilongwa ngaphambi kokutshala. Le ndlela isebenzisa ukuvundisa kwesibeletho futhi ivumela imibungu kuphela engeyona ethwala lesi sifo ukuthi ifakwe esibelethweni. Kubazali "abathwali abaphilile" abangafisi ukuthatha ingozi yokubeletha ingane ene-cystic fibrosis, le ndlela igwema ukufakwa kombungu othintekile. Izikhungo ezithile kuphela zokuzala ngokuzalwa kwezokwelapha ezigunyazwe ukusebenzisa le ndlela.

Ukuhlolwa okusanda kuzalwa. Inhloso yalolu vivinyo ukuhlonza izingane ezisanda kuzalwa ezine-cystic fibrosis ukuze zinikeze ukwelashwa okudingekayo ngokushesha okukhulu. Isibikezelo kanye nekhwalithi yempilo bese kungcono. Isivivinyo siqukethe ukuhlaziywa kwedonsi legazi lapho kuzalwa. EFrance, lolu vivinyo lwenziwa ngokuhlelekile ngesikhathi sokuzalwa kusukela ngo-2002.

• Lezi yizinyathelo zakudala zokuhlanzeka zokunciphisa ubungozi bokutheleleka: geza izandla zakho ngensipho namanzi njalo, sebenzisa izicubu ezilahlwayo futhi ugweme ukuxhumana nabantu abanemikhuhlane noma labo abaphethwe yisifo esithathelwanayo. .

• Thola imishanguzo yokulwa nomkhuhlane (ukugoma minyaka yonke), isimungumungwane, i-pertussis kanye nenkukhu ukuze kuncishiswe ubungozi bokutheleleka.

• Gwema ukuthintana kakhulu nabanye abantu abane-cystic fibrosis abangadlulisa amagciwane athile (noma bazibambele awakho).

• Hlanza ngokuphelele imishini esetshenziselwa ukwelashwa (idivaysi ye-nebulizer, imaski yokungenisa umoya, njll.).