Ingabe Kuhlolwa Kanjani I-Spinal Muscular Atrophy Ngesikhathi Sokukhulelwa?

-Delile

• Kufanele ucabangele nini ukuhlolwa?
• Hlobo luni lwezivivinyo ezisetshenziswayo?
• Kwenziwa kanjani izivivinyo?
• Ingabe zikhona izingozi ngokwenza lokhu kuhlolwa?
• Izakhi zofuzo ze-SMA
• Izinhlobo ze-SMA nezindlela zokwelashwa
• Uhlobo lwe-SMA 0
• Uhlobo lwe-SMA 1
• Uhlobo lwe-SMA 2
• Uhlobo lwe-SMA 3
• Uhlobo lwe-SMA 4
• Izinketho zokwelashwa
• Ukuthatha isinqumo sokuthola ukuhlolwa ngaphambi kokubeletha
• Ukuthatha

I-Spinal muscular atrophy (SMA) yisimo sezakhi zofuzo esenza buthakathaka imisipha emzimbeni wonke. Lokhu kwenza kube nzima ukunyakaza, ukugwinya, futhi kwezinye izimo ukuphefumula.

I-SMA ibangelwa ukuguqulwa kwezakhi zofuzo okudluliselwa kusuka kubazali kuya ezinganeni. Uma ukhulelwe futhi wena noma umlingani wakho unomlando womndeni we-SMA, udokotela wakho angakukhuthaza ukuthi ucabangele ukuhlolwa kofuzo ngaphambi kokubeletha.

Ukwenza ukuhlolwa kofuzo okwenziwe ngesikhathi sokukhulelwa kungacindezela. Udokotela wakho kanye nomeluleki wezofuzo bangakusiza uqonde izinketho zakho zokuhlola ukuze wenze izinqumo ezikulungele.

Kufanele ucabangele nini ukuhlolwa?

Uma ukhulelwe, unganquma ukuthola ukuhlolwa kokubeletha kwe-SMA uma:

• wena noma umlingani wakho unomlando womndeni we-SMA
• wena noma umlingani wakho ungumphathi owaziwayo wohlobo lwe-SMA
• ukuhlolwa kokukhulelwa kusenesikhathi kubonisa ukuthi amathuba akho okuba nengane enesifo sofuzo aphezulu kunesilinganiso

Isinqumo mayelana nokuthola ukuhlolwa kwezofuzo yisinqumo somuntu siqu. Unganquma ukungakwenzi ukuhlolwa kofuzo, noma ngabe i-SMA isebenza emndenini wakho.

Hlobo luni lwezivivinyo ezisetshenziswayo?

Uma uthatha isinqumo sokuhlolela izakhi zofuzo ngaphambi kokubeletha kwe-SMA, uhlobo lokuhlolwa luzoncika esigabeni sokukhulelwa kwakho.

Isampuli ye-chorionic villus (i-CVS) isivivinyo esenziwa phakathi kwamasonto ayishumi nali-13 okukhulelwa. Uma uthola lokhu kuhlolwa, kuzothathwa isampula le-DNA ku-placenta yakho. I-placenta iyi- isitho esikhona kuphela ngesikhathi sokukhulelwa futhi sinikeza umbungu izakhi zomzimba.

I-Amniocentesis isivivinyo esenziwa phakathi kwamasonto ayi-14 kuya kwangama-20 okukhulelwa. Uma uthola lokhu kuhlolwa, kuzolandwa isampula le-DNA kusuka ku-amniotic fluid esibelethweni sakho. Amniotic fluid uketshezi oluzungeze umbungu.

Ngemuva kokuqoqwa kwesampula le-DNA, lizohlolwa elabhorethri ukuthola ukuthi ngabe umbungu unofuzo lweSMA. Njengoba i-CVS yenziwa ngaphambi kokukhulelwa, imiphumela uzoyithola kusenesikhathi sokukhulelwa kwakho.

Uma imiphumela yokuhlolwa ikhombisa ukuthi ingane yakho kungenzeka ibe nemiphumela ye-SMA, udokotela wakho angakusiza uqonde izinketho zakho zokuqhubekela phambili. Abanye abantu banquma ukuqhubeka nokukhulelwa futhi bahlole izindlela zokwelashwa, kuyilapho abanye benganquma ukukuqeda ukukhulelwa.

Kwenziwa kanjani izivivinyo?

Uma uthatha isinqumo sokuthola i-CVS, udokotela wakho angasebenzisa enye yezindlela ezimbili.

Indlela yokuqala yaziwa njenge-CVS eyeqile. Ngale ndlela, umhlinzeki wezokunakekelwa kwezempilo ufaka inaliti encane esiswini sakho ukuqoqa isampula ku-placenta yakho ukuze ihlolwe.Bangasebenzisa i-anesthetic yendawo ukunciphisa ukungakhululeki.

Enye inketho yi-CVS yokudlulisa. Ngale ndlela, umhlinzeki wezokunakekelwa kwezempilo ubeka ithubhu elincanyana esithweni sakho sangasese kanye nomlomo wesibeletho ukuze ufinyelele ku-placenta yakho. Basebenzisa ithubhu ukuthatha isampula elincane kwi-placenta ukuyohlolwa.

Uma unquma ukuthi kwenziwe ukuhlolwa nge-amniocentesis, umhlinzeki wezokunakekelwa kwezempilo uzofaka inaliti ende ezacile esiswini sakho esikhwameni se-amniotic esizungeze umbungu. Bazosebenzisa le naliti ukudweba isampula le-amniotic fluid.

Kokubili i-CVS ne-amniocentesis, i-imaging ye-ultrasound isetshenziswa kuyo yonke inqubo ukusiza ukuqinisekisa ukuthi kwenziwa ngokuphepha nangokunembile.

Ingabe zikhona izingozi ngokwenza lokhu kuhlolwa?

Ukuthola okunye kwalokhu kuhlolwa kokukhulelwa kokubeletha kwe-SMA kungaphakamisa ingozi yokukhulelwa kwesisu. Nge-CVS, kunethuba elilodwa kokungu-100 lokuphuphuma kwesisu. Nge-amniocentesis, ingozi yokukhulelwa kwesisu ingaphansi kuka-1 kuma-200.

Kuvamile ukuthi kube nokucinana noma ukungaphatheki kahle ngesikhathi senqubo nangezikhathi zamahora ambalwa ngemuva kwalokho. Ungahle ufune ukuthi othile eze nawe azokushayela ekhaya kusuka enkambisweni.

Ithimba lakho lezokunakekelwa kwempilo lingakusiza unqume ukuthi izingozi zokuhlolwa zingaphezu kwezinzuzo ezingaba khona yini.

Izakhi zofuzo ze-SMA

I-SMA yisifo se-genetic recessive. Lokhu kusho ukuthi isimo senzeka kuphela ezinganeni ezinamakhophi amabili ohlobo oluthintekile. I- I-SMN1 Amakhodi wezakhi zofuzo we-SMN protein. Uma womabili amakhophi alesi sakhi esinesici, ingane izoba ne-SMA. Uma ngabe ikhophi elilodwa kuphela elonakele, ingane izoba yisithwali, kodwa ngeke ithuthukise isimo.

I- I-SMN2 I-gene nayo ikhomba amaprotheni athile e-SMN, kepha hhayi amaprotheni amaningi njengoba umzimba udinga. Abantu banamakhophi angaphezu kwelilodwa we I-SMN2 gene, kepha hhayi wonke umuntu unenani elifanayo lamakhophi. Amakhophi amaningi okunempilo I-SMN2 i-gene correlates ene-SMA engaphansi kakhulu, futhi amakhophi ambalwa ahambisana nama-SMA abucayi.

Cishe kuzo zonke izimo, izingane ezine-SMA zithole amakhophi wesakhi esithintekile kubo bobabili abazali. Ezimweni ezingavamile kakhulu, izingane ezine-SMA zithole ikhophi eyodwa yesakhi sofuzo esithintekile futhi zinezinguquko ezizenzakalelayo kwenye ikhophi.

Lokhu kusho ukuthi uma kungumzali oyedwa kuphela ophethe ufuzo lwe-SMA, ingane yabo ingase futhi ithwale isakhi sofuzo - kodwa mancane kakhulu amathuba okuthi ingane yabo ithuthukise i-SMA.

Uma bobabili abalingani bephethe isakhi sofuzo esithintekayo, kukhona:

• Amaphesenti angama-25 amathuba okuthi bobabili bazodlulisela isakhi sokukhulelwa
• Amaphesenti angama-50 amathuba okuthi munye wabo kuphela ozodlulisa isakhi sofuzo ngesikhathi sokukhulelwa
• Amaphesenti angama-25 amathuba okuthi akekho kubo ozodlulisa isakhi sofuzo ngesikhathi sokukhulelwa

Uma wena nomlingani wakho nobabili niphatha isakhi sofuzo se-SMA, umeluleki wezofuzo angakusiza uqonde amathuba akho okudlulisa.

Izinhlobo ze-SMA nezindlela zokwelashwa

I-SMA ihlukaniswa ngokususelwa eminyakeni yokuqala kanye nobukhulu bezimpawu.

Uhlobo lwe-SMA 0

Lokhu ukuqala kokuqala kanye nohlobo olunzima kakhulu lwe-SMA. Futhi kwesinye isikhathi ibizwa nge-prenatal SMA.

Kulolu hlobo lwe-SMA, ukwehla kokunyakaza kombungu kuvame ukubonwa ngesikhathi sokukhulelwa. Izingane ezizalwa zinohlobo lwe-SMA 0 zinobuthakathaka obunzima bemisipha nenkinga yokuphefumula.

Izingane ezinalolu hlobo lwe-SMA ngokuvamile azihlali ngaphezu kwezinyanga eziyisithupha ubudala.

Uhlobo lwe-SMA 1

Lolu uhlobo oluvame kakhulu lwe-SMA, ngokwe-U.S. National Library of Medicine’s Genetic Home Reference. Siyaziwa nangokuthi isifo seWerdnig-Hoffmann.

Ezinganeni ezizalwa zine-SMA yohlobo 1, izimpawu zivame ukuvela ngaphambi kwezinyanga eziyisithupha ubudala. Izimpawu zibandakanya ubuthakathaka obunzima bemisipha futhi ezimweni eziningi kuba nezinselelo ngokuphefumula nokugwinya.

Uhlobo lwe-SMA 2

Lolu hlobo lwe-SMA luvame ukutholakala luneminyaka ephakathi kwezinyanga eziyisithupha neminyaka emi-2.

Izingane ezine-SMA type 2 zingakwazi ukuhlala kodwa zingahambi.

Uhlobo lwe-SMA 3

Leli fomu le-SMA livame ukutholakala liphakathi kweminyaka engu-3 nengu-18.

Ezinye izingane ezinalolu hlobo lwe-SMA ziyafunda ukuhamba, kepha zingadinga isihlalo sabakhubazekile njengoba lesi sifo siqhubeka.

Uhlobo lwe-SMA 4

Lolu hlobo lwe-SMA aluvamile kakhulu.

Kubangela izimpawu ezinzima ezingabonakali kuze kube yilapho sezikhulile. Izimpawu ezijwayelekile zifaka ukundindizela nobuthakathaka bemisipha.

Abantu abanalolu hlobo lwe-SMA bavame ukuhlala beselula iminyaka eminingi.

Izinketho zokwelashwa

Kuzo zonke izinhlobo ze-SMA, ukwelashwa ngokuvamile kubandakanya izindlela ezahlukahlukene zokufundisa abaqeqeshiwe bezempilo abanokuqeqeshwa okukhethekile. Ukwelashwa kwezinsana ezine-SMA kungafaka izindlela zokwelapha ezisizayo ngokuphefumula, ukudla okunomsoco, nezinye izidingo.

Ukuphathwa Kwezokudla Nezidakamizwa (i-FDA) nakho muva nje kuvume izindlela ezimbili zokwelashwa ezibhekiswe ekwelapheni i-SMA:

• INusinersen (Spinraza) ivunyelwe izingane kanye nabantu abadala abane-SMA. Ekuvivinyweni komtholampilo, kusetshenziswe ezinganeni ezisencane njenge.

• I-Onasemnogene abeparvovec-xioi (i-Zolgensma) yindlela yokwelapha yezakhi zofuzo evunyelwe ukusetshenziswa ezinganeni ezine-SMA.

Lezi zindlela zokwelapha zintsha futhi ucwaningo luyaqhubeka, kepha lungashintsha umbono wesikhathi eside wabantu abazalwa benama-SMA.

Ukuthatha isinqumo sokuthola ukuhlolwa ngaphambi kokubeletha

Isinqumo sokuthi ukuthola ukuhlolwa kokubeletha kwe-SMA kungokomuntu siqu yini, futhi kwabanye kungaba nzima. Ungakhetha ukungakwenzi ukuhlolwa, uma ngabe yilokho okuthandayo.

Kungasiza ukuhlangana nomeluleki wezofuzo njengoba usebenza ngesinqumo sakho kunqubo yokuhlola. Umeluleki wezofuzo unguchwepheshe wobungozi nokuhlolwa kwezifo zofuzo.

Kungasiza futhi ukukhuluma nomeluleki wezempilo yengqondo, ongakunikeza wena nomndeni wakho ukuxhaswa ngalesi sikhathi.

Ukuthatha

Uma wena noma umlingani wakho unomlando womndeni we-SMA noma ungumthwali owaziwayo wesakhi sofuzo se-SMA, ungacabanga ukuthola ukuhlolwa kokubeletha.

Lokhu kungaba inqubo engokomzwelo. Umeluleki wezofuzo nabanye ochwepheshe bezempilo bangakusiza ufunde ngezinketho zakho futhi wenze izinqumo ezizwakala kangcono kuwe.