Unokuyifumana njani ukuba unayo iinguqulelo zomzimba ezingakhokelela kwi-cystic fibrosis (CF) kumntwana wakho? Kutheni singakwazi ukuba sihlale siyazi ukuba umntu unentshukumo engakhokelela kwi-cystic fibrosis? Kwaye kutheni uvavanyo lubiza kakhulu?
Sibanzi
Kubalulekile ukucacisa ngokuchanekileyo ukuhlolwa kofuzo lwe-cystic fibrosis kuthetha ukuqonda le mibuzo. Sineemvavanyo ezingakwazi ukuxilonga i-cystic fibrosis kubantwana, nakwixesha lokuzalwa , ngaphambi kokuba kukho naziphi iimpawu.
Ukuvavanywa kwimeko yokuphatha, nangona kunjalo, kuyahluke.
Uvavanyo lwe-genetic lwe-cystic fibrosis ukuguqulwa kukuquka ukuvavanya umntu ongenayo, kwaye akayi kukhula, ukutshintshwa kwezinto ezitshintshileyo ezinokudlulela kwimbewu, leyo leyo ingakhokelela kwi-cystic fibrosis.
Kulinganiselwa ukuba eUnited States, abantu abangaphezu kwama-30,000 bane- cystic fibrosis kunye nabantu abangaphezu kwezigidi ezili-10 baphatha umkhondo we-cystic fibrosis . Umphathiswa akanalo isifo okanye nayiphina impawu kodwa unako ukudlula i-CF kumntwana.
Genetics 101
Iimvelaphi ziyimpawu zethu zofuzo kwaye zilawulwa ngokuthwala ulwazi malunga nayo yonke into esuka kumbala wamehlo ukuyila i-enzymes egalela ukutya kwindlela yethu yokugaya. I-DNA yethu yenziwe ngama-chromosomes angama-46, angama-23 avela koomama kunye no-23 koobawo.
I-gene isigaba esicacileyo se-chromosome. Izahlulo zethu, zenzeke ngokudibanisa ezine ezine-amino acid, ezizenza "iileta" ezithi, xa zidibene, zichaza "amagama." Ukuguqulwa kukubhekiselele kunoma yimuphi umonakalo kwimfuza apho umyalelo oqhelekileyo wale ncwadi udibaniswa.
Kukho iileta ezingekho, iileta ezongeziweyo, okanye ziyakwazi ukulungiswa ngeendlela ezahlukeneyo.
Ngokulula, usenokucinga ngokuguqulwa kwamagama njengegama kwileta. Xa ileta ingekho okanye ihlelwe kwakhona, igama elihlukile likhankanywe. Emzimbeni, i-DNA yethu "iguqulelwe" ekwakheni amaprotheni.
Xa utshintsho luphumela kwimveliso yeprotheni engavumelekanga, izifo ezifana ne-cystic fibrosis zingabangela.
I-Genetics & Cystic Fibrosis
Uvavanyo lwe-genetic ye-cystic fibrosis lwenziwe ukujonga ukuba umntu unayo, okanye umphathi we-cystic fibrosis. Uvavanyo luvame ukuqhutyelwa kwi-sampuli yegazi, kodwa ngamanye amaxesha kunokwenziwa kwezinye iiseli ezine-DNA ezinjenge-swab ezivela ngaphakathi kwehlathi. Isampuli ihlolwe kwiphaneli ethile yenguqu ye- cystic fibrosis transmembrane regulator (CFTR) .
Wonke umntu uneekopi ezimbini zegciwane leCFTR kuzo zonke iiseli zazo. Ukuba ikhophi enye , eyaziwa nangokuthi i-allele ifumaneka ukuba yintshintsho, loo mntu ungumphathiswa. Ukuba zombini iikopi ze-gene ziguqulwa, umntu unesifo se-cystic fibrosis.
Ukuze umntwana akwazi ukuhlakulela i-cystic fibrosis, kufuneka adle iifaji ezimbini eziguqulwayo, enye evela kumama kunye nenye evela kubaba. Ukuba kuphela umama okanye utata unomdla wokuguqula, umntwana unokuba ngumphathi weCF, kodwa akayi kuvelisa i-cystic fibrosis.
Ukuguqulwa komzimba kwi-gene akuqhelekanga nje kuphela. Kunoko, kukho iindlela ezininzi ezahlukileyo. Kukho amaqela angama-1,500 ahlukeneyo e-CFTR awaziwayo ukuba enze iCF, kwaye utshintsho olutsha lufunyaniswa njengoko uphando oluqhubekayo.
Akukho vavanyo lovavanyo lwazo zonke iinguqu ezinokuthi zenze iinguqu ezibangelwa yiCF, kodwa iimvavanyo eziliqela ziyafumaneka ukuba zikhangele iinguqu eziqhelekileyo ze-CFTR. Iindleko zovavanyo lwezofuzo ezivela kumakhulu ambalwa ukuya kwiiwaka zamawaka eedola, kwaye zinokuthi zihlawulwe okanye zingabandakanywa yi-inshurensi.
Ukuhlolwa kwe-Genetic yeCystic Fibrosis
Uvavanyo olusisiseko lwe-genetic ye-cystic fibrosis ngezinye iinkalo ekubhekiswa ngokuba yi-ACMG / ACOG Mutation Panel okanye iphaneli engu-23 lokuguquka, lijonga iinguqu eziqhelekileyo eziguqukayo ze-CFTR. Olu vavanyo lusempumelelo malunga neepesenti ezingama-90 ekufumaneni iinguqu ze-CF kwi-Caucasian population, kodwa kuphela malunga neepesenti ezingama-70 eziphumelelayo kuma-Afrika aseMelika kunye nama-60 ekhulwini asebenzayo kubantu baseSpain.
Uvavanyo lufumaneka ngokubanzi kwiilabhu zendawo kunye neengingqi, kodwa utshintsho oluthile oluvivinywa luyahluka ngohlobo lweenkqubo zebhabhi. Ezinye iilabhu zikhangele ezinye iinguqulelo, kodwa uvavanyo olusisiseko kufuneka lubandakanye iinguqu ezingama-23 ezicetyiswa yi-American College of Medical Genetics (ACMG) kunye ne-American College of Obstetricians kunye ne-Gynecologists (ACOG). Iziphumo zivame ukufumaneka kwiintsuku ezimbalwa kodwa zingathatha ixesha elide ukuba i-specimen imele ithunyelwe kwibhanti enkulu yokuvavanya.
Ezinye iikhampani ziye zavelisa iimvavanyo ezingakwazi ukuchonga ukuguqulwa kwezinto eziqhelekileyo ngokungezelelwe kulabo abakwi-ACMG / ACOG iphaneli ecetywayo. Ezi mvavanyo zinokukunceda ngakumbi ekufumaneni utshintsho lwe-cystic fibrosis ezingabonakaliyo xa zenziwe njengoluvavanyo olulandelelweyo ukuba iipaneli ezisisiseko zivelise iziphumo eziqhelekileyo.
Abanye abantu bakhetha ukuvavanya oku ngakumbi ukuvavanya kovavanyo lwabo lokuqala, ngakumbi ukuba ngaba banokuguqulwa kwe-CFTR engaqhelekanga. Iimvavanyo eziphambili zizodwa kwaye zimele zithunyelwe kumalabhu anikezelayo. Ezi mvavanyo zingadlala ngaphezulu kwaye zithathe ixesha elide ukufumana iziphumo kunepaneli yokuhlola eyintloko eyenziwe kwibhanki yendawo.
Ukuba ucinga ngokuvavanya i-cystic fibrosis, kubaluleke kakhulu ukuthetha nomcebisi wezofuzo. Ngokubanzi, uvavanyo lufunyenwe ukuba lunempembelelo eninzi ngeendlela ezininzi, ukusuka ekuvumela abazali ukuba babe nobudlova ngokuvavanyelwa kwangaphambi kokubeletha ukuze umntwana wabo athathwe ngokususela ekuzalweni ukubonelela abo bafumana ukuba abayithwala impawu.
Kulabo abangakhulelwe ngexesha lokuvavanya, kodwa bafumanisa ukuba bayithwala, kukho ezininzi iinkqubo eziphathekayo zentliziyo kunye nokuzikhethela ngokwabo eziza kufuna ukuqwalaselwa ngononophelo kunye nenkxaso eninzi.
Imithombo:
UBrennan, M., no-I. Schrijver. I-Cystic Fibrosis: Ukuhlaziywa kweeFenotypes ezidibeneyo, Ukusetyenziswa kweendlela zokuHlola ngeMolcular, i-Charactic Characteristics, Intuthuko kunye neDilemmas. Umbhalo weMelecular Diagnostics . 2016. 18 (1): 3-14.
Dugueperoux, I., L'Hostis, C., Audrezet, M et al. Ukukhanyisa Impembelelo yovavanyo lweCascade Carrier ku-Cystic Fibrosis Families. Umbhalo weCystic Fibrosis . 2016. 15 (4): 452-9.
Straniero, L., Solda, G., Costantino, L. et al. I-CFTR ye-Gene-Whole Genetic Sequencing Ihlanganiswe ne-Digital RT-PCR Iphucula i-Genetic Diagnosis yeCystic Fibrosis. Journal of Human Genetics . 2016. 61 (12): 977-984.