Ngaba wakha waphawula ukuba umntu kusapho lwakho, mhlawumbi umama okanye utata wakho, okanye umntu omaziyo, ngequbuliso ulahlekelwa lulawulo lwamalungu omzimba wakhe? Usenokuba ukhe waphawula izinto ezifana nokungcangcazela okuncinci, ngamanye amaxesha ukukhubeka nje, izinto eziwa phantsi, okanye ubunzima bokulawula iimvakalelo ezifana nomsindo nosizi. Nangona ezi zinto zinokubonakala ngathi zizinto ezincinci ngaphandle, isizathu sazo ngamanye amaxesha sinokuba sibi kakhulu. Namhlanje siza kuthetha ngesifo esibangela iimpawu ezifanayo, kodwa abantu abaninzi kwilizwe lethu abangazange beve ngaso. Eso siSifo sikaHuntington.
Ngamafutshane, yintoni iSifo sikaHuntington?
Isifo sikaHuntington sisifo semfuza esichaphazela ingqondo, ingakumbi iiseli zemithambo-luvo. Sichaphazela iindawo zengqondo ezilawula intshukumo kunye nenkumbulo.
Cinga ngemizimba yethu njengekhompyutha. Ingqondo yeyona ndawo iphambili yokulawula. Xa esi sifo sikhula, ezinye zeenkqubo ezikwelo ziko lokulawula ziyaphela. Emva koko izinto ezifana neentshukumo zomzimba, iimvakalelo, kunye nokucinga ziqala ukuba ziphela. Ekuhambeni kwexesha, ezi mpawu ziyanda kancinci kancinci, azinciphi.
Ngaba kukho naziphi na iintlobo zesi sifo?
Ewe, kukho iintlobo ezimbini eziphambili zesifo sikaHuntington.
1. Ukuqala kwabantu abadala: Olu lolona hlobo luqhelekileyo. Iimpawu zihlala ziqala ukubonakala emva kweminyaka engama-30.
2. Isifo sikaJuvenile Huntington: Olu luhlobo olungaqhelekanga kakhulu. Luchaphazela abantwana kunye nabantu abadala abancinci.
Zithini iimpawu zesifo sikaHuntington?
Esi sifo sichaphazela imizimba yethu kunye nengqondo yethu. Ngoko ke, iimpawu zinokwahlulwa zibe ziindidi ezimbini eziphambili. Masizijonge ngale ndlela ukuze kube lula ukuziqonda.
| Uhlobo lwempawu | Ingcaciso kunye nemizekelo |
|---|---|
| Iimpawu Zomzimba |
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| Utshintsho lweNgqondo kunye nokuziphatha |
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Kwinqanaba lokuqala, ezi mpawu zisenokungabonakali. Zinokuqala ngento elula njengokubamba ipeni okanye ukukhubeka. Kodwa ngokuhamba kwexesha, ezi mpawu zinokuba zimbi ngakumbi, zenze kube nzima ukwenza imisebenzi yemihla ngemihla wedwa.
Into ebalulekileyo kukuba ezi mpawu zinokwahluka kumntu nomntu. Oko umntu anako kusenokungafani nokomnye umntu.
Kutheni esi sifo senzeka? Yintoni unobangela?
Eyona nto ibangela isifo sikaHuntington kukuguquka kwezakhi zofuzo. Ngamafutshane, kubangelwa lutshintsho kwizakhi zofuzo ezibizwa ngokuba yi-'HTT' emizimbeni yethu.
Le gene ye-`HTT` yenza iproteni ebizwa ngokuba yi-`huntingtin`. Le proteni inceda iiseli zemithambo-luvo (ii-neurons) ezingqondweni zethu ukuba zisebenze kakuhle.
Nangona kunjalo, ngenxa yokuba umntu onesifo sikaHuntington unesiphako kwi-'HTT' gene, iproteni 'yokuzingela' eyivelisayo nayo inesiphako. Endaweni yokunceda iiseli zemithambo-luvo, loo proteni inesiphako iqala ukuzitshabalalisa. Xa iiseli zengqondo zisifa ngale ndlela, iimpawu ezikhankanyiweyo apha ngasentla ziyavela.
Ngaba esi sisifo esizuzwe njengelifa?
Ewe. Esi sisifo esizuzwa njengelifa. Kwizonyango, esi sibizwa ngokuba yi-"autosomal dominant" pattern yelifa. Oku kuthetha nje:
Ukuba umama okanye utata wakho unale sifo, nawe unethuba elingama-50% lokuba unesifo.Ewe. Kwaye kunjalo nakubantakwenu.
Kunqabile kakhulu ukuba umntu abe nesifo ngaphandle kokuba nabani na kusapho lwakhe abe nesifo ngenxa yotshintsho olutsha lwemfuza. Kodwa oko kwenzeka rhoqo.
Ugqirha uxilonga njani esi sifo?
Ukuba unale mpawu, into yokuqala omawuyenze kukubona ugqirha. Kusenokwenzeka ukuba uza kukuthumela kwingcali yezifo zengqondo.
Kuyenziwa uvavanyo oluninzi ukuze kufunyaniswe isifo.
- Uvavanyo lomzimba nolwemithambo-luvo: Ugqirha uza kujonga ngononophelo iintshukumo zomzimba wakho, ibhalansi, kunye nokusabela komzimba wakho.
- Imbali yezonyango yosapho: Uza kubuzwa ukuba kukho umntu kusapho lwakho okhe waba nesi sifo. Oku kubaluleke kakhulu.
- Uvavanyo lwemfuza: Olu lolona vavanyo lubalulekileyo lokuqinisekisa isifo. Oku kuquka ukuthatha isampuli yegazi lakho nokuvavanya i-DNA yalo ukuze kubonwe ukuba i-HTT gene inesiphako na.
- Iiskeni zobuchopho: Iiskeni ezifana ne-magnetic resonance imaging (MRI) kunye ne-computed tomography (CT) scans nazo zingenziwa ukuze kubonwe ukuba kukho naluphi na utshintsho engqondweni.
Ngaba kunokwenzeka ukwazi ukuba unale nto ngaphambi kokuba kuvele iimpawu?
Ewe, unako. Ukuba kukho umntu kusapho lwakho (umama, utata, umntakwenu) onesifo, uvavanyo lwemfuza lunokufumanisa ukuba nawe uyalizuza na ijini ngaphambi kokuba kuvele iimpawu . Oku kubizwa ngokuba "luvavanyo lwemfuza oluqikelela kwangaphambili".
Kodwa esi sisigqibo esibucayi kakhulu.
- Iingenelo: Ukwazi ukuba unokufumana esi sifo kwixesha elizayo kunokukunceda ngocwangciso losapho kunye nocwangciso lwezemali.
- Iingxaki: Kwakhona, kunokuba nzima kakhulu engqondweni ukwazi ukuba unesifo esinganyangekiyo.
Ngoko ke, ngaphambi kokuba wenze uvavanyo olunjalo, kungcono ukuthetha nomcebisi wezofuzo uze wenze isigqibo emva kokuqonda ngokupheleleyo okulungileyo nokubi.
Ngaba ikhona indlela yokunyanga oku?
Le yeyona nto ibuhlungu ukuyiva. Okwangoku akukho nyango lokunyanga ngokupheleleyo isifo sikaHuntington, ukuthintela ukuba esi sifo singabikho, okanye ukuthintela iimpawu ukuba zingabi mandundu.
Kodwa, ungakhathazeki. Kukho unyango oluninzi olunokunceda ukulawula iimpawu kwaye luncede isigulana siphile kamnandi kangangoko.
- Unyango lomzimba okanye unyango lomsebenzi: Olu nyango lunceda ukuphucula ulungelelwano lomzimba, amandla emisipha, kwaye lwenze imisebenzi yemihla ngemihla ibe lula.
- Unyango lokuthetha:Inceda ekuthetheni nasekuginyeni ubunzima.
- Ingcebiso: Ingcebiso ibaluleke kakhulu ekulweni neemeko ezinje ngoxinzelelo kunye nokudakumba okubangelwa sisifo.
- Amayeza: Ugqirha wakho unokukunika amayeza ahlukeneyo okulawula iimpawu zakho. Umzekelo:
- Amayeza anjenge-"Tetrabenazine" kunye ne-"Deutetrabenazine" asetyenziswa ukulawula ukungcangcazela komzimba (i-chorea).
- Amayeza afana namayeza okudakumba kunye namayeza okulwa noxinzelelo lwengqondo.
Isifo siba mandundu njani ngokuhamba kwexesha?
Isifo sikaHuntington sisifo esiqhubekayo esidla ngokuqhubeka ngezigaba ezintathu.
| Inqanaba lesi sifo | Imeko |
|---|---|
| Inqanaba lokuqala | Iimpawu azikho nzulu kangako. Kusenokubakho ukungcangcazela okuncinci, utshintsho lweemvakalelo, kunye nokudideka. Ungenza imisebenzi yakho yemihla ngemihla njengesiqhelo. |
| Isigaba Esiphakathi | Utshintsho lomzimba nolwengqondo luyanda. Izinto ezinje ngokuqhuba nokuqhuba ziba nzima. Ubunzima bokuginya buyanda. Ukuwa rhoqo. Kodwa ungenza imisebenzi yakho yobuqu (ukuhlamba, ukunxiba) wedwa. |
| Isigaba Sokuphela | Kuba nzima ukwenza imisebenzi yemihla ngemihla wedwa. Abantu abaninzi balala ebhedini. Bafuna uncedo komnye umntu kuyo yonke into, ukusuka ekutyeni ukuya ekuhlambeni. Bafuna ukhathalelo oluhlala iiyure ezingama-24. |
Ingaba esi sifo siyabulala?
Isifo sikaHuntington asibangeli ukufa ngokuthe ngqo. Nangona kunjalo, iingxaki zesi sifo zinokubangela ukufa. Umzekelo:
- Ubunzima bokuginya bunokubangela ukuba ukutya/isiselo sibambeke kwindlela yomoya , nto leyo ebangela izifo ezifana ne-pneumonia .
- Ukulimala okukhulu okubangelwa kukuwa rhoqo .
Esi sifo sidla ngokuhlala phakathi kweminyaka eli-10 ukuya kwengama-30 emva kokuba sifunyenwe.Ungaphila. Eli xesha liyahluka ukusuka kumntu nomntu.
Yintoni onokuyenza ngelixa uphila nesi sifo?
Nangona esi sifo singenakuthintelwa, zininzi izinto ezinokwenziwa ukugcina umgangatho wobomi ulungile ngelixa uphila nesi sifo.
- Yenza umthambo rhoqo: Uphando lubonise ukuba umthambo unokukunceda uhlale uphilile emzimbeni nasengqondweni.
- Fumana ukutya okunempilo: Ukwakha umzimba kunokutshisa iikhalori ezifikelela kwi-5,000 ngosuku. Ngoko ke, kubalulekile ukubonisana nengcali yesondlo kwaye utye ukutya okunempilo.
- Sela amanzi amaninzi: Ubunzima bokuginya bunokubangela ukuba umntu aphelelwe ngamanzi emzimbeni. Ngoko ke, kubalulekile ukusela amanzi afunekayo imini yonke.
- Joyina iqela lenkxaso: Ukuthetha nabanye abantu abanale sifo kunye neentsapho zabo ngumthombo omkhulu wamandla engqondo.
- Cwangcisa ikamva: Phanda kwangaphambili ngonyango oza kulufuna (iinkonzo zokhathalelo lwasekhaya, amakhaya abantu abadala) ukuba isigulo sakho siya sibi. Khetha umntu omthembayo ukuba ajongane nemicimbi yakho yezemali neyomthetho.
Kuqhelekile ukuba uzive ulusizi kwaye wothukile xa ufunda ngesi sifo. Kodwa awuwedwa. Oogqirha, iingcali zonyango, abacebisi, kunye nosapho lwakho bakhona ukukunceda.
Umyalezo Wokuya Ekhaya
- Isifo sikaHuntington sisifo semfuza esidluliselwa kwizizukulwana ngezizukulwana. Asisiso isifo esosulelayo.
- Oku konakalisa kakhulu iiseli zemithambo-luvo engqondweni, nto leyo echaphazela iintshukumo zomzimba, iimvakalelo kunye nobuchule bokucinga.
- Akukho nyango lwesifo, kodwa kukho unyango olunokunceda ukulawula iimpawu kunye nokuphucula umgangatho wobomi.
- Ukuba kukho umntu kusapho lwakho onesi sifo, nawe usengozini. Ukuba unamathandabuzo ngaso, thetha nogqirha kwaye ufumane iingcebiso malunga novavanyo lwemfuza.
- Nangona ukuphila nesi sifo kunzima, ngonyango olufanelekileyo, inkxaso yonyango, kunye noncedo losapho, ungaphila ubomi obulungileyo kangangoko unako.
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