Ubuhlungu bukaWilson: Izimpawu, Izimbangela, Nokwelashwa

Ubuhlungu bukaWilson yisimo esingavamile sezofuzo lapho umzimba wakho ungakwazi khona ukususa ithusi ngendlela efanele, okubangela ukuba luqoqane ethisini lakho, ebuchosheni, nakwezinye izitho. Lokhu kuqoqana kwethusi kwenzeka ngoba uzuza amajini abonakalayo womabili abazali bakho athinta indlela umzimba wakho uqapha ngayo le mineral ebalulekile.

Nakuba ithusi liwusizo emzimbeni wakho ngezilinganiso ezincane, kakhulu liba yinobuthi ngokuhamba kwesikhathi. Lesi simo sithinta abantu abangaba ngu-1 ku-30,000 emhlabeni jikelele, futhi izimpawu ziqala ukubonakala phakathi kweminyaka engu-5 no-35, nakuba zingabonakala ngaphambi noma kamuva kwezinye izimo.

Ziyini izimpawu zokugula kukaWilson?

Izimpawu zokugula kukaWilson zihlukahluka kakhulu kuye ngokuthi yiziphi izitho ezithinteka kakhulu ukuqoqana kwethusi. Izimpawu zokuqala zingaba zimbi futhi zidideke kalula nezinye izimo, kungakho abantu abaningi bengatholi ukuxilongwa ngokushesha.

Izimpawu ezivamile ongazibona zihlanganisa:

• Ukukhathala nobuthakathaka obungaphuli ngokuphumula
• Ubuhlungu besisu noma ukukhuluphala endaweni yesisu
• Ukukhanya kwesikhumba noma amehlo (jaundice)
• Ukuzamazama noma ukuthuthumela, ikakhulukazi ezandleni zakho
• Ubunzima bokuqamba kahle noma inkulumo ephazamisekile
• Izinkinga zokuxhumanisa nokuqondana
• Ukuqina kwemisipha yakho
• Ukushintsha kwesimo sengqondo, ukucindezeleka, noma ukukhathazeka
• Ubunzima bokuqonda noma izinkinga zokukhumbula

Abanye abantu bathuthukisa ama-rings abomvu noma aluhlaza okwesibhakabhaka emehlweni abo abizwa ngama-Kayser-Fleischer rings. La ma-rings empeleni yi-deposits yethusi futhi angabonwa ngesikhathi sokuhlolwa kwamehlo, nakuba kungabi khona kuwo wonke umuntu onokugula kukaWilson.

Ezimweni eziphambili, ungase uhlangabezane nokuhluleka kwesisu ngokuzumayo, izimpawu zezinzwa ezinzima njengobunzima bokuginya, noma ukushintsha okukhulu kwengqondo. Lezi zimpawu ezinzima zidinga ukunakekelwa kwezokwelapha ngokushesha futhi akufanele ziganjwa.

Ziyini izinhlobo zokugula kukaWilson?

Ubuhlungu bukaWilson ngokuvamile luhlukaniswa ngokusekelwe ekutheni yiziphi izimpawu ezivela kuqala nezitho ezithinteka kakhulu. Ukuqonda lezi zinhlobo kusiza odokotela ukuba benze uhlelo lokwelapha olufanele kuwe.

Uhlobo lwe-hepatic luthinta ithisi lakho ikakhulu futhi ngokuvamile lubonakala kubantwana nabasakhulayo. Ungase uqaphele ukukhathala, ubuhlungu besisu, noma izimpawu zezinkinga zesisu njenge-jaundice ngaphambi kokuba kube khona izimpawu ezihlobene nobuchopho.

Uhlobo lwezinzwa luthinta ikakhulu ubuchopho bakho nesistimu yezinzwa, ngokuvamile lubonakala kubantu abadala abasebancane. Lolu hlobo ngokuvamile lubangela izinkinga zokunyakaza, ukuthuthumela, ubunzima bokuqamba, nezinkinga zokuxhumanisa njengezimpawu zokuqala eziphawulekayo.

Uhlobo lwe-psychiatric luthinta ikakhulu isimo sakho sengqondo nokuziphatha, kubangela ukucindezeleka, ukukhathazeka, ukushintsha komuntu siqu, noma ubunzima bokucabanga ngokucacile. Lolu hlobo lungaba nzima kakhulu ukuxilongwa ngoba izimpawu zihlangana nezinye izimo zempilo yengqondo.

Abanye abantu bahlangabezana nohlobo oluhlanganisiwe lapho izimpawu zesisu, ubuchopho, nezengqondo zivele ndawonye noma ngokushesha. Lo mhlanganiso ungenza ukuxilongwa kube nzima kakhulu kodwa futhi unikeza amaphuzu amaningi eqenjini lakho lezinsizakalo zezempilo.

Yini ebangela ubuhlungu bukaWilson?

Ubuhlungu bukaWilson bubangelwa ukuguqulwa kwejini elithi ATP7B elilawula indlela umzimba wakho uqapha ngayo ithusi. Uzuza lesi simo kubazali bakho, futhi udinga ukuthola ikhophi eyonakele yaleli jini kokubili kunina noyihlo ukuze uthuthukise lesi sifo.

Ijini lakho le-ATP7B ngokuvamile likhiqiza i-protein esiza ekuhambiseni ithusi ngaphandle kwesisu lakho liye e-bile yakho, bese ithwala ithusi ngaphandle komzimba wakho ngesistimu yakho yokugaya ukudla. Uma leli jini lingasebenzi kahle, ithusi liqala ukuqoqana ethisini lakho esikhundleni sokususwa.

Ngokuhamba kwesikhathi, lokuqoqana kwethusi kuba yinobuthi futhi kuqala ukubulala amangqamuzana esisu lakho. Uma ithisi lakho lingasakwazi ukugcina ithusi ngokuphepha, ithusi elingaphezulu ligeleza egazini lakho futhi liya kwezinye izitho njengobochopho, izinso, namehlo.

Inani lethusi eliqoqayo nokuthi liqoqana ngokushesha kangakanani kuyahlukahluka kumuntu ngamunye, ngisho nasemhlabeni omkhulu. Lokhu kuchaza ukuthi kungani abanye abantu bethuthukisa izimpawu ekuqaleni kwabantwana, kanti abanye ababoni izinkinga kuze kube yilapho sebekhulu.

Nini kufanele ubheke udokotela ngenxa yokugula kukaWilson?

Kufanele ubheke udokotela uma uhlangabezana nezimpawu eziqhubekayo ezingase zibonise ubuhlungu bukaWilson, ikakhulu uma unemlando womndeni wesimo. Ukuxilongwa kwangaphambi kwesikhathi nokwelashwa kungavimbela izinkinga ezinzima futhi kukusize ugcine ikhwalithi yempilo enhle.

Xhumana nodokotela wakho uma uqaphela ukukhathala okuqhubekayo, ubuhlungu besisu obungachazwanga, ukuthuthumela, noma ukushintsha ekuqondeni kwakho okuhlala isikhathi esingaphezu kwamasonto ambalwa. Lezi zimpawu zingase zibonakale zingahlobene, kodwa ndawonye zingase zibonise ubuhlungu bukaWilson.

Funani ukunakekelwa kwezokwelapha ngokushesha uma uthuthukisa izimpawu ezinzima ezinjengobunhlungu besisu obukhulu, ukukhanya kwesikhumba noma amehlo, ukudideka, noma ubunzima bokuginya. Lezi zimpawu zingase zibonise ukuthi amazinga ethusi afinyelele amazinga ayingozi futhi adinga ukwelashwa okusheshayo.

Uma unezilwane zomndeni ezinokugula kukaWilson, kubalulekile kakhulu ukuhlolwa ngisho noma uzizwa kahle. Ukuhlolwa kwezofuzo nokucubungula kungathola lesi simo ngaphambi kokuba izimpawu zivele, kuvumela ukwelashwa kwangaphambi kwesikhathi okuvimbela ukonakala kwezitho.

Ziyini izimbangela zengozi zokugula kukaWilson?

Imbangela enkulu yengozi yokugula kukaWilson ukuba nabazali abathwala bobabili i-faulty ATP7B gene. Njengoba lokhu kuyisimo sezofuzo esingavamile, udinga ukuzuza ikhophi enye eyonakele kunina noyihlo ukuze uthuthukise lesi sifo.

Isizinda sakho sobuzwe singathinta ingozi yakho kancane, njengoba abantu abathile banesilinganiso esiphezulu sokuthwala i-Wilson's disease gene. Abantu baseMpumalanga Yurophu, iMeditheraeni, noma eMpumalanga Ephakathi banesilinganiso esiphezulu kancane, nakuba lesi simo singathinta noma ubani kungakhathaliseki ubuzwe bawo.

Ukuba nabazalwane abanobuhlungu bukaWilson kukhuphula ingozi yakho kakhulu, njengoba wabelana nabazali abafanayo nangesizinda sezofuzo. Uma omunye wabafowenu noma odadewenu ekhona ekuxilongweni, unethuba elingu-25% lokuba nalesi simo.

Iminyaka ayibangeli ubuhlungu bukaWilson ngokuqondile, kodwa ithonya ukuthi izimpawu zivela nini. Abantu abaningi bathuthukisa izimpawu phakathi kweminyaka engu-5 no-35, nakuba ezinye izimo ezingavamile zibonisa izimpawu ekuqaleni kwabantwana noma kamuva ebuntwini.

Ziyini izinkinga ezingase zenzeke ngenxa yokugula kukaWilson?

Ngaphandle kokwelashwa okufanele, ubuhlungu bukaWilson bungabangela izinkinga ezinzima njengoba ithusi liqhubeka liqoqana ezithweni zakho. Izindaba ezinhle ukuthi iningi lalezi zinkinga lingavikeleka noma lilawulwe ngenakekelwa yezokwelapha efanele.

Izinkinga ezivamile ongahlangabezana nazo zihlanganisa:

• I-liver cirrhosis noma ukugcwala okubangela ukonakala kwesisu
• Ukuhluleka kwesisu okusheshayo okudinga ukwelashwa okusheshayo
• Ukonakala okungapheli kwezinzwa okuthinta ukunyakaza nokukhuluma
• Izinkinga zezinso ezivela ekuthungeni kwethusi
• Ukungahambi kahle kwenhliziyo
• Izinkinga zamathambo nezinhlangothi
• Izimpawu zengqondo ezinzima kufaka phakathi i-psychosis

Ezimweni ezingavamile, ubuhlungu bukaWilson obungalashwanga bungabangela ukuhluleka kwesisu okubulalayo noma ukubola okukhulu kwezinzwa. Abanye abantu bangase bathuthukise isimo esibizwa nge-hemolytic anemia, lapho ithusi lilimaza amangqamuzana egazi ebomvu futhi libabangela ukuba aphule ngokushesha kunokujwayelekile.

Ukukhulelwa kungase kube nezinkinga ezikhethekile kubesifazane abanobuhlungu bukaWilson, njengoba amazinga ethusi angase ashintshe futhi kungase kudingeke ukulungiswa kwemithi. Noma kunjalo, ngokubeka iliso okufanele nenakekelwa, abesifazane abaningi abanobuhlungu bukaWilson bangaba nokukhulelwa okunempilo nabantwana abaphilile.

Ubuhlungu bukaWilson buxilongwa kanjani?

Ukuxilongwa kokugula kukaWilson kudinga ukuhlolwa okuhlukene ngoba akukho ukuhlolwa olulodwa oluqinisekisa lesi simo. Udokotela wakho cishe uzoqala ngokuhlolwa kwegazi ukuhlola amazinga ethusi nomsebenzi wesisu.

Ukuhlolwa okuvamile kokuxilongwa kuhlanganisa ukulinganisa i-ceruloplasmin (i-protein ethwala ithusi egazini lakho), ukuhlola amazinga ethusi emathisini akho angu-24-hour, nokucubungula umsebenzi wesisu lakho ngokusebenza kwegazi. I-ceruloplasmin ephansi ehlangene nethusi eliphezulu emathisini ngokuvamile isikisela ubuhlungu bukaWilson.

Udokotela wakho uzoqhuba futhi ukuhlolwa kwamehlo ukubuka ama-Kayser-Fleischer rings, leyo deposits yethusi ephawulekayo eduze kwe-cornea yakho. Nakuba kungabi bonke abantu abanobuhlungu bukaWilson abanawo la ma-rings, ukuwafumana kusekela kakhulu ukuxilongwa.

Ukuhlolwa kwezofuzo kungaqinisekisa ukuxilongwa ngokubona ukuguqulwa kwejini le-ATP7B. Lolu hlobo lokuhlolwa lusiza kakhulu amalungu omndeni afuna ukwazi ukuthi bathwala yini lesi simo, ngisho noma abanawo izimpawu.

Ezimweni ezithile, udokotela wakho angase acele i-liver biopsy ukuze alinganise ngokuqondile amazinga ethusi e-tissue yesisu lakho. Le nqubo ihilela ukuthatha isampula encane ye-tissue yesisu ukuze ihlolwe futhi inikeza ukulinganiswa okuchane kakhulu kokuqoqana kwethusi.

Yini ukwelashwa kokugula kukaWilson?

Ukwelashwa kokugula kukaWilson kugxile ekuqedeni ithusi elingaphezulu emzimbeni wakho nokunciphisa ukuqoqana okuqhubekayo. Ngokwelashwa okufanele, abantu abaningi bangaphila impilo evamile, enempilo futhi bavimbele izinkinga ezinzima.

Imithi eyinhloko esetshenziswayo yi-chelating agents ehlanganisa ithusi futhi isize umzimba wakho ukuthi uyisuse ngomchamo. I-Penicillamine ne-trientine yimithi evamile kakhulu e-prescribed, futhi isebenza ngokubamba ama-molecules ethusi nokubakhombisa ngaphandle kwesistimu yakho.

I-zinc supplements imele enye indlela yokwelapha esebenza ngokuvimba ukufunwa kwethusi ezibindini zakho. Kunokususwa kwethusi elikhona, i-zinc ivikela ithusi elisha ukungena esistimu yakho futhi ngokuvamile isebenziselwa ukwelashwa okuqhubekayo kwesikhathi eside.

Udokotela wakho uzobeka iliso ekukhuleni kokwelashwa kwakho ngokuhlolwa kwegazi nomchamo njalo ukuqinisekisa ukuthi imithi isebenza kahle futhi ukulungisa imithamo uma kudingeka. Abantu abaningi badinga ukuthatha imithi impilo yonke ukuze bagcine amazinga ethusi elawulwa.

Ezimweni ezinzima lapho ukonakala kwesisu kukhulu, ukutshalwa kwesisu kungase kudingeke. Lokhu ngokuvamile kugcinelwe abantu abano-acute liver failure noma i-advanced cirrhosis abaphenduli ekwelapheni.

Indlela yokuphatha ubuhlungu bukaWilson ekhaya?

Ukuphatha ubuhlungu bukaWilson ekhaya kuhilela ukulandela isimiso sakho semithi ngokuthembeka nokwenza ukulungiswa kokudla ukuze usekele ukwelashwa kwakho. Ukuzinza ngemithi yakho e-prescribed kubaluleke kakhulu ekuqondeni amazinga ethusi.

Uzodinga ukulinganisela ukudla okunethusi eliningi, ikakhulu ngonyaka wokuqala wokwelashwa lapho umzimba wakho usebenza ekuqedeni ithusi elingaphezulu. Ukudla okufanele ukugwema noma ukulinganisela kuhlanganisa ithisi, i-shellfish, amantongomane, i-chocolate, amakhowe, nezithelo ezomile.

Ukuthatha imithi yakho ngezikhathi ezifanele nangokudla okufanele kubalulekile ekusebenzeni kahle. Imithi ye-chelating isebenza kangcono uma ithathwa isisu silithile, kuyilapho i-zinc kufanele ithathwe phakathi kokudla ukuze ibe lula ukufunwa futhi inciphisa ukuphazamiseka kwesisu.

Ukuzivocavoca okujwayelekile kungasiza ekuqondeni impilo yakho yonke futhi kungase kusekele umsebenzi wesisu, nakuba kufanele uxoxe ngezilinganiso ezifanele zomsebenzi nodokotela wakho. Imisebenzi elula njengokuhamba, ukubhukuda, noma i-yoga ngokuvamile iphephile futhi inenzuzo.

Ukugwema utshwala kubalulekile ngoba kungenza ukubola kwesisu kube sibi futhi kuphazamise ukwelashwa kwakho. Ngisho nezingxenye ezincane zotshwala zingaba yingozi uma ithisi lakho selihlangabezana nokuthungwa kwethusi.

Kufanele ulungiselele kanjani i-appointment yakho yodokotela?

Ukulungiselela i-appointment yakho yodokotela kusiza ukuqinisekisa ukuthi uthola okuningi kakhulu ekuhambeni kwakho futhi kunikeza iqembu lakho lezinsizakalo zezempilo ngolwazi olulidingekayo ukuze likusize ngokuphumelelayo. Qala ngokubhala zonke izimpawu zakho, ngisho nalabo ababonakala bengahlobene.

Yenza uhlu lwemithi yonke ne-supplements oyithathayo njengamanje, kufaka phakathi imithamo nokuthi uyithatha kangaki. Lokhu kuhlanganisa imithi ye-over-the-counter nama-vitamins, njengoba amanye angase aphazamise ukwelashwa kokugula kukaWilson.

Bula ulwazi ngemlando womndeni wakho wezokwelapha, ikakhulukazi noma yimaphi amalungu omndeni abe nezinkinga zesisu, izimo zezinzwa, noma izifo zengqondo. Uma wazi nganoma yimaphi amalungu omndeni anokugula kukaWilson, letha lezo zindaba ukuze uzabelane.

Bhala imibuzo ofuna ukuyibuza udokotela wakho ngaphambi kwe-appointment yakho ukuze ungawukhohlwa ngesikhathi sokuvakasha kwakho. Cabanga ukubuza ngezindlela zokwelapha, ukushintsha kwesitayela sempilo, izidingo zokubeka iliso, nokuthi yini okulindelekile kuqhubeke.

Letha umngane othembekile noma ilungu lomndeni e-appointment yakho uma kungenzeka, ikakhulu uma uhlangabezana nezinkinga zokukhumbula noma ubunzima bokuqonda. Bangakusiza ukuba ukhumbule ulwazi olubalulekile futhi banikeze ukwesekwa ngokomzwelo.

Iyini into ebalulekile ngokugula kukaWilson?

Ubuhlungu bukaWilson yisimo sezofuzo esilawuleka esidinga ukwelashwa okuphila konke kodwa akudingeki silimise ikhwalithi yempilo yakho. Into ebaluleke kakhulu okumele uyikhumbule ukuthi ukuxilongwa kwangaphambi kwesikhathi nokwelashwa okuqhubekayo kungavimbela izinkinga ezinzima futhi kukusize uphile ngokujwayelekile.

Nakuba ukuxilongwa kungase kubonakale kukhulu ekuqaleni, abantu abaningi abanobuhlungu bukaWilson baqhubeka benama-careers aphumelelayo, ubuhlobo, nemindeni ngenakekelwa yezokwelapha efanele. Isifuba ukusebenzisana eduze neqembu lakho lezinsizakalo zezempilo nokugcina ukuzibophezela ehlelweni lakho lokwelapha.

Khumbula ukuthi ubuhlungu bukaWilson buthinta wonke umuntu ngendlela ehlukile, ngakho-ke okuhlangenwe nakho kwakho kungase kungafani nalokho okufundayo ku-inthanethi noma okukuzwayo kwabanye. Gxila ehlelweni lakho lokwelapha nokuqhubeka kwakho, futhi ungangabazi ukuxhumana nodokotela wakho ngemibuzo noma ukukhathazeka.

Imibuzo evamile ebuzwayo ngokugula kukaWilson

Ingabe ubuhlungu bukaWilson bungaphiliswa ngokuphelele?

Ubuhlungu bukaWilson abukwazi ukupheliswa, kodwa bungaphathwa kahle ngokwelashwa okuphila konke. Abantu abaningi abathola ukwelashwa okufanele bangavimbela ukonakala kwezitho okuqhubekayo futhi baphile impilo evamile, enempilo. Isifuba ukuqala ukwelashwa kwangaphambi kwesikhathi nokuthatha imithi ngokuqhubekayo njengoba ku-prescribed udokotela wakho.

Ngingawudlulisela yini ubuhlungu bukaWilson kubantwana bami?

Uma unokugula kukaWilson, ngamunye wabantwana bakho unethuba elingu-50% lokuba ngumthwali futhi unethuba elincane kakhulu lokuba nalesi sifo. Umlingani wakho uzobe edinga ukuba ngumthwali ukuze umntanakho athuthukise ubuhlungu bukaWilson. Ukubonisana ngezofuzo kungakusiza ukuqonda izingozi ezikhethekile nezinketho zomndeni wakho.

Kuthatha isikhathi esingakanani ukwelashwa ukusebenza?

Ungase uqale ukuzizwa kangcono phakathi nezinyanga ezimbalwa ekuqaleni kokwelashwa, kodwa kungathatha iminyaka engu-1-2 ukubona ukuthuthuka okukhulu ezimpawini zezinzwa. Umsebenzi wesisu ngokuvamile uthuthuka ngokushesha, ngezikhathi ezithile phakathi kwamasonto noma izinyanga. Udokotela wakho uzobeka iliso ekukhuleni kwakho ngokuhlolwa kwegazi okujwayelekile futhi alungise ukwelashwa uma kudingeka.

Ngingaphila impilo evamile ngokugula kukaWilson?

Yebo, abantu abaningi abanobuhlungu bukaWilson bangaphila impilo evamile ngokuphelele ngokwelashwa okufanele. Ungasebenza, uzivocavoce, ube nobuhlobo, futhi uqale umndeni njenganoma ubani omunye. Isidingo esiyinhloko ukuthatha imithi yakho ngokuqhubekayo nokulandelwa yiqembu lakho lezinsizakalo zezempilo njalo.

Kwenzekani uma ngiyeka ukuthatha imithi yami?

Ukuyeka imithi yakho yokugula kukaWilson kungaba yingozi ngoba ithusi lizoqala ukuqoqana ezithweni zakho futhi. Lokhu kungabangela izinkinga ezinzima kufaka phakathi ukuhluleka kwesisu, izinkinga zezinzwa, noma izimpawu zengqondo. Uma unezinkinga ngemithi yakho yamanje, xoxa nodokotela wakho ngezinketho ezihlukile kunokumisa ukwelashwa ngokuphelele.