Ukuba ne-CF Gene ayithethi ukuba unayo iCystic Fibrosis
I-Cystic fibrosis iyisifo esizuze ilifa esibangela ukusuleleka kwemiphunga kunye ne-sinus, ukungaphumeleli njengentsana kunye neengxaki zokugaya ezinjengamafutha, izithambiso ezisuka kwi-fat malabsorption kwi-gut okanye ukuqhaqhaqatha okukhulu.
Makhe sihlolisise ifa le-cystic fibrosis, kunye namathuba amanani omntwana ophuhlisa i-CF ukuba ngaba abazali bobabini beCF.
I-Cystic Fibrosis: I-Autosomal Reessive Disease
Wonke umntu unamaqela angama-23 e-chromosomes kwiseli nganye. Kuzo zombini iimbini ezi-23, enye ibini i-chromosomes yesini (i-X chromosome ne-Y chromosome) kunye namanye amabini amabini angama-chromosomes abizwa ngokuba ngama-autosomes.
Idilesi nganye ye-chromosome iqukethe iifayile ezifanayo, kodwa kungekhona i-code efanayo yomzimba. Ngokomzekelo, zombini i-chromosomes kwibini ebonisa umbala weenwele iya kuba ne-gene color, kodwa enye inokuba yimdaka kwaye enye i-blonde.
I-Cystic fibrosis ibangelwa ukuguqulwa kwe-cystic fibrosis i-transmembrane regulator (CFTR). Ukuba ungumphathi we-CF, ithetha ukuba enye yezinto zakho zegciwane zeCFTR ziqhelekileyo, kwaye enye iqulethe utshintsho olwaziwayo lubangela i-cystic fibrosis.
I-cystic fibrosis iyenzeka kuphela xa zombini iikopi ze-CFTR iguqula ukuguquka-yingakho i-cystic fibrosis ibizwa ngokuba yi-autosomal disease excessive, ngokuchasene nesifo esiphezulu se-autosomal (apho kukho ikhophi eyodwa kuphela ye-genetic mutation efunekayo ekuphuculweni kwezifo) .
I-clincher ukuba wena kunye nomlingani wakho bobabini abathwali beCF, ungadlulisela i-CF kumntwana wakho. Oku kungenxa yokuba umntwana wakho uya kuzuza i-chromosome enye yebini nganye ukusuka kuwe, kunye nomnye ovela kumlingane wakho. Ukuba umntwana wakho ufumana zombini iikopi ze-chromosome ene-gene yeCFTR, iyakubakho iikopi ezimbini kwaye zizalelwe nge-cystic fibrosis.
Ukuba umntwana wakho uzuze i-chromosome eguqulekileyo ukusuka kwenye yakho kunye nelinye eliqhelekileyo kwelinye, baya kuba ngumphathiswa weCF, kodwa abanakho i-cystic fibrosis. Ukuba umntwana wakho uzuza i-chromosome eqhelekileyo kubo bobabini kuni, uya kuba neefom ezimbini eziqhelekileyo, oko kuthetha ukuba akayithwali okanye ayikho iCF.
I-Cystic Fibrosis: Izikhundla zokuSitatisti
Nantsi enye indlela yokujonga oko kuthetha ukuthatha umphathiswa weCF.
Ukuhlanganiswa okunokwenzeka ukuba abathwali beCF ababini banokudlulela kumntwana babo:
- I-CFTR eqhelekileyo ukusuka kumama + utshintsho oluvela kubaba = umphathi
- I-CFTR eqhelekileyo ukusuka kutshintshi + ukuguqulwa komama = isithwala
- I-CFTR eqhelekileyo kumama + oqhelekileyo kwiCFTR kwi-dad = ayikho umphathi kwaye akanakho iCF
- I-CFTR yatshintshwa kumama + yatshintsha i-CFTR kwi-dad = i-cystic fibrosis
Ukuba wena kunye neqabane lakho nisisithwala, umntwanakho uneepesenti ezingama-25 zokuba neCF, ithuba eli-50 ekhulwini lokuba ngumthwali, kunye neepesenti ezingama-25 ithuba lokungabikho kunye neCF.
Ukuba iqabane lakho lingummeli weCF, akuyi kuba nzima ukuba umntwana wakho abe neCF kuba unokufumana iikopi eziqhelekileyo zegciwane leCFTR kumlingane wakho. Nangona kunjalo, ukuba umntwana wakho wamkela i-CFTR geni eguqulwayo evela kuwe, uya kuba neepesenti ezingama-25 yokuba ngumthwali. Kule meko, umntwana wakho unokugqithisa umgangatho weCF kubantwana bawo.
Oko kuthetha ukuba yiNkonzo yeMpilo
Ukuba ungumthengisi weCF, awuyi kuba nempawu ze-cystic fibrosis kwaye akudingeki ukhathazeke ngokuphuhlisa isifo. Ukongezelela, ukuba ngumphathiswa weCF akayi kukhawulelani ixesha lokuphila kwakho okanye akuphephe nangayiphi indlela (ngaphandle kocwangciso lweentsapho).
Xa uqala ukucinga ngokuba nabantwana , wena kunye nomlingane wakho kufuneka ufune ukululekwa ngezofuzo ukuze uqaphele ingozi edibeneyo yokudlulisa i-CF kubantwana bakho kwixesha elizayo. Ngokukodwa, unokubona ukuba wena kunye neqabane lakho ngabaphathi be-CF ngokuhlolwa kwegazi ukujonga i-gene yeCF.
ILizwi
Ingqungquthela yokugqibela eyazi ukuba ngaphambi kokuba kuqaliswe iinkqubo zokuhlola abantwana, ininzi yabantu abazange bafumane ukuba babe neCF baze babe neempawu.
Ngoku, ukuba usana lufumana uvavanyo oluvayo olutsha olutsha lokuhlola, uza kuhlola i-chloride ukuhlolwa ukuqinisekisa ukuxilongwa kweCF.
Ngokuhlolwa kwe-chloride yokujuluka, umxholo wetyuwa womsana womntwana ulinganiswa. Abantu abane-CF banomgangatho ophezulu ngokweqhekeza weryuwa ngenxa yokukhukhuma ngenxa yomsebenzi wokukhupha umkhuhlane.
Ngokuxilongwa kwangaphambili, ukunyamekelwa phantsi kweqela elikhethekileyo lezezifo zeCF lingaqaliswa ngokukhawuleza. Eli qela lidla ngokubandakanya oogqirha (ingakumbi ugqirha weemphunga kunye nobuchule kwiCF), abahlengikazi, isazi sezilwanyana, isifo sengqondo sokuphefumula, isifo somzimba, isazi sezengqondo kunye nentlalontle.
> Imithombo:
> Torpy JM, uLynm C, i-Glass RM. Icystic fibrosis. JAMA Page. JAMA . 2009; 302 (10): 1130.
> IYunivesithi yaseVirginia yeNkqubo yeMpilo. (2016). Icystic fibrosis.