CF Genetics: Sidee hiddo-wadayaashaadu u saameeyaan daaweyntaada

Qanacsan

• Sidee ayuu isbeddelada hidde-sideyaashu u keenaa CF?
• Waa maxay noocyada isbeddelada ee sababi kara CF?
• Sidee ayey isbeddelada hidde-sideyaashu u saameeyaan xulashooyinka daaweynta?
• Sideen ku ogaan karaa haddii daaweyntu ku habboon tahay ilmahayga?
• Qaadashada

Haddii ilmahaagu qabo cystic fibrosis (CF), markaa hidde-sideyaashu waxay door ka ciyaaraan xaaladdooda. Noocyada gaarka ah ee keena CF-kooda ayaa sidoo kale saameyn ku yeelan doona noocyada daawooyinka u shaqeyn kara iyaga. Taasi waa sababta ay muhiim u tahay in la fahmo qaybta hiddo-wadaha ee ka ciyaara CF marka go'aan laga gaarayo daryeelka caafimaadka ilmahaaga.

Sidee ayuu isbeddelada hidde-sideyaashu u keenaa CF?

CF waxaa sababa isbadal ku yimaada cystic fibrosis transmembrane conduct regulator (CFTR) hiddo-wadaha Hidda-wadaha ayaa mas'uul ka ah soo saarista borotiinka CFTR. Marka borotiinadani ay si sax ah u shaqeynayaan, waxay gacan ka geystaan ​​nidaaminta qulqulka dareeraha iyo milixda soo galaya iyo kuwa ka baxaya unugyada.

Sida laga soo xigtay Cystic Fibrosis Foundation (CFF), saynisyahannadu waxay ogaadeen in ka badan 1,700 nooc oo kala duwan oo isbadal ku dhaca hidda-wadaha sababi kara CF. Si loo horumariyo CF, cunugaada waa inuu dhaxlaa labo nuqul oo isbedelay CFTR hidde - mid ka mid ah waalid kasta oo bayooloji ah.

Waxay kuxirantahay nooca gaarka ah ee isbedelada hidaha ee cunugaaga, laga yaabee inaysan soo saari karin borotiinada CFTR. Xaaladaha kale, waxay soo saari karaan borotiinka CFTR ee aan sida saxda ah u shaqeyn. Cilladahaasi waxay keenaan duuf inay samaysmaan sambabtooda waxayna halis ugu jiraan dhibaatooyin.

Waa maxay noocyada isbeddelada ee sababi kara CF?

Saynisyahannadu waxay soo saareen qaabab kala duwan oo loo kala saaro isbeddellada ku dhaca CFTR hiddo-wadaha Waxay hadda kala soocaan CFTR Isbedelada hidda-wadaha ee shan qaybood, iyadoo lagu saleynayo dhibaatooyinka ay sababi karaan:

• Fasalka 1: Is-beddelka wax soo saarka borotiinka
• Fasalka 2: Is-beddellada ka-baxda borotiinka
• Fasalka 3: isbeddellada qamaarka
• Fasalka 4: Is-beddelka wadnaha
• Fasalka 5: isbadal ku dhaca borotiinka

Noocyada gaarka ah ee isbeddelada hidda-socodka ee canuggaaga ayaa saameyn ku yeelan kara calaamadaha uu ku dhaco. Waxay sidoo kale saameyn ku yeelan kartaa xulashooyinka daaweyntooda.

Sidee ayey isbeddelada hidde-sideyaashu u saameeyaan xulashooyinka daaweynta?

Sanadihii la soo dhaafay, cilmi baarayaashu waxay bilaabeen inay iswaafajiyaan noocyada kala duwan ee daawooyinka iyo noocyada kala duwan ee isbeddelada CFTR hiddo-wadaha Nidaamkan waxaa loo yaqaan 'theratyping'. Waxay ka caawin kartaa dhakhtarka ilmahaaga inuu go'aamiyo qorshaha daaweynta ee ugu fiican iyaga.

Waxay kuxirantahay da'da ilmahaaga iyo hiddo-wadaha, dhakhtarkooda ayaa kuu qori kara modulator CFTR ah. Noocaan dawada ah ayaa loo isticmaali karaa in lagu daaweeyo dadka qaarkood ee qaba CF. Noocyada gaarka ah ee modulators CFTR kaliya waxay u shaqeeyaan dadka leh noocyo gaar ah CFTR hiddo-wadaha.

Ilaa hadda, Maamulka Cuntada iyo Dawooyinka ee Mareykanka (FDA) ayaa ansixiyay seddex daaweyn oo loo yaqaan 'CFTR modulator therapies':

• ivacaftor (Kalydeco)
• lumacaftor / ivacaftor (Orkambi)
• tezacaftor / ivacaftor (Symdeko)

Qiyaastii boqolkiiba 60 dadka qaba CF ayaa ka faa'iideysan kara mid ka mid ah daroogooyinkaas, ayaa lagu soo warramey CFF. Mustaqbalka, saynisyahannadu waxay rajeynayaan inay soo saaraan daaweyn kale oo loo yaqaan 'CFTR modulator therapy' kaas oo ka faa'iideysan kara dad badan

Sideen ku ogaan karaa haddii daaweyntu ku habboon tahay ilmahayga?

Si aad u baratid haddii ilmahaagu ka faa'iideysan karo qalab-sameeyaha CFTR ama daaweyn kale, la hadal dhakhtarkooda. Xaaladaha qaarkood, dhakhtarkooda ayaa laga yaabaa inuu amro baaritaanno si wax badan looga ogaado xaaladda ilmahaaga iyo sida ay ula dhaqmi karaan daawada.

Haddii modulators CFTR aysan ku habbooneyn ilmahaaga, daaweyn kale ayaa la heli karaa. Tusaale ahaan, dhakhtarkoodu wuxuu kuu qori karaa:

• xab-khafiifiyeyaasha
• bronchodilators
• antibiyootikada
• enzymes dheefshiidka

Marka lagu daro qoritaanka daawooyinka, kooxda caafimaadka ilmahaaga ayaa laga yaabaa inay ku baraan sida loo sameeyo farsamooyinka nadiifinta hawo-mareenka (ACTs) si looga takhaluso oo looga daadiyo xabka sanbabada ilmahaaga.

Qaadashada

Noocyo badan oo kaladuwan oo isbeddello hidde ah ayaa sababi kara CF. Noocyada gaarka ah ee isbeddelada hidda-socodka ee canuggaaga ayaa saameyn ku yeelan kara astaamahooda iyo qorshaha daaweynta. Si aad wax badan uga barato ikhtiyaariyada daaweynta ilmahaaga, la hadal dhakhtarkooda. Xaaladaha badankood, dhakhtarkoodu wuxuu kugula talin doonaa baaritaanka hidda-socodka.