Ubuthakathaka beGaucher? Izimpawu, Izimbangela, Nokwelashwa

Ubuthakathaka beGaucher buyisimo esingavamile sezofuzo lapho umzimba wakho ungakwazi khona ukwahlukanisa uhlobo oluthile lokuqina okubizwa ngokuthi i-glucocerebroside. Lokhu kwenzeka ngoba awunalo noma unalo oluncane kakhulu lwensimbi ebalulekile ebizwa ngokuthi i-glucocerebrosidase.

Uma le nsimbi ingasebenzi kahle, izinto eziningi ezinamanoni ziyakwakha ezintweni ezithile emzimbeni wakho, ikakhulukazi esiswini, isibindi, amaphaphu, ubuhlalu lwamathambo, futhi ngezinye izikhathi ebuchosheni bakho. Lezi zinto, ezibizwa ngokuthi amaseli eGaucher, zingabangela izimpawu ezahlukene kuye kokuthi ziqoqana kuphi nokuthi kukhona kangakanani ukwakheka.

Ziyini izimpawu zokuthakathaka kweGaucher?

Izimpawu ongazihlangabezana nazo ziyahluka kuye ngohlobo lokubuthakathaka beGaucher olukhona nokuthi ukwakheka kwamafutha kwenzeka kuphi emzimbeni wakho. Abanye abantu banezimpawu ezilula ezikhula kancane kancane eminyakeni eminingi, kanti abanye bangaba nezibonakaliso ezibonakala kakhulu ekuqaleni kokuphila.

Nawa izimpawu ezivame kakhulu ongaziqaphela:

• Isiswini esikhulu esingenza isisu sakho sizizwe sigcwele noma sibangele ukungakhululeki ngakwesobunxele.
• Isibindi esikhulu esingabangela ukukhula kwesisu.
• Ukukhathala nobuthakathaka obungaphuli ngokuphumula.
• Ukubulala kalula nokuphuza igazi elithatha isikhathi eside ukuyeka.
• Ubuhlungu lwamathambo, ikakhulukazi ezinyaweni, ezingalweni, noma emhlane.
• Ukutheleleka okuvamile ngenxa yokuncane kwamaseli egazi amhlophe.
• Amabala aphuzi ezinhlangothini ezimhlophe zamehlo akhombisa i-pingueculae.

Abanye abantu abanezimpawu ezinzima kakhulu bangase babe nezimpawu zezinzwa. Lokhu kungabandakanya ubunzima bokuginya, ukubamba, izinkinga zokunyakaza kwamehlo, noma ukulibaziseka ekuthuthukeni kwabantwana.

Kubalulekile ukukhumbula ukuthi izimpawu zingase zihluke kakhulu kumuntu nomuntu, ngisho nasemhlabeni omnye. Abanye abantu baphila ngezimpawu ezilula kakhulu iminyaka eminingi ngaphambi kokuthi baqaphele.

Ziyini izinhlobo zokuthakathaka kweGaucher?

Odokotela bahlukanisa ubuthakathaka beGaucher zibe izinhlobo ezintathu eziyinhloko kuye kokuthi buthinta kanjani noma ngokunzima kangakanani uhlelo lwezinzwa. Ukuqonda lezi zinhlobo kusiza iqembu lakho lokunakekelwa kwezempilo ukunikeza ukunakekelwa okufanele kakhulu isimo sakho esithile.

Uhlobo 1 lokubuthakathaka beGaucher luyindlela evamile kakhulu, oluthinta cishe abantu abangu-95% abanesimo. Lolu hlobo aluthinti ngokuvamile ubuchopho bakho noma uhlelo lwezinzwa, nakuba lusengabangela izimpawu ezinkulu kwezinye izingxenye zomzimba wakho njengesisu, isibindi, namathambo.

Uhlobo 2 lokubuthakathaka beGaucher lulinganiselwe kakhulu futhi lubi kakhulu. Luthinta izingane futhi ngokuvamile luhlanganisa izinkinga zezinzwa ezinzima ezivela ezinyangeni ezimbalwa zokuqala zokuphila. Ngeshwa, lolu hlobo luya phambili ngokushesha futhi ngokuvamile luyingozi ekuphileni.

Uhlobo 3 lokubuthakathaka beGaucher luwela phakathi kwezinye izinhlobo ezimbili. Lungathinta uhlelo lwakho lwezinzwa kodwa ngokuvamile luya kancane kunohlobo 2. Abantu abanoHlobo 3 bangase babe nezimpawu ebuntwaneni noma ebusheni futhi bangaba nobunzima obukhulu.

Yini ebangela ubuthakathaka beGaucher?

Ubuthakathaka beGaucher bubangelwa izinguquko kugene elithile elibizwa nge-GBA1 elinikeza imiyalo yokwenza i-enzyme ye-glucocerebrosidase. Uzuza lezi zinguquko zezofuzo kubazali bakho, futhi bobabili abazali kufanele babe nekopi yijini elishintshile ukuze uthuthukise lesi simo.

Le ndlela yokudluliselwa iyabizwa ngokuthi i-autosomal recessive. Uma bobabili abazali bakho bephethe ikhophi eyodwa yijini elishintshile, unethuba elingu-25% lokufumana kokubili amakhophi futhi uthuthukise ubuthakathaka beGaucher. Unethuba elingu-50% lokuba ngumthwali njengabazali bakho, kanye nethuba elingu-25% lokungaphethi igene nhlobo.

Lesi simo sivame kakhulu kubantu abavela e-Ashkenazi Jewish, lapho cishe umuntu omunye ku-450 ethinteka khona. Noma kunjalo, ubuthakathaka beGaucher bungase benzeke kunoma yiluphi uhlobo lwabantu, nakuba luncane kakhulu kwezinye izigaba zabantu.

Kufanele kuqaphele ukuthi ngisho noma uzuza izinguquko zezofuzo, ubunzima nokukhathazeka kwezimpawu kungase kuhluke kakhulu. Abanye abantu bangaba nezimpawu kusukela ebuntwaneni, kanti abanye bangase bangaziboni izinkinga kuze kube yilapho sekukhulu.

Nini okufanele ubona udokotela ngenxa yokuthakathaka kweGaucher?

Kufanele ucabange ukuya kudokotela uma uhlangabezana nezimpawu eziqhubekayo ezingase zibonise ubuthakathaka beGaucher, ikakhulukazi uma zithinta impilo yakho yansuku zonke. Ukuxilongwa kwasekuqaleni nokuphathwa kungasiza ukuvimbela izinkinga nokwenza impilo yakho ibe ngcono.

Funani ukunakekelwa kwezokwelapha uma uqaphela isisu esikhulu esingapheli, ikakhulu uma sihambisana nokuzizwa ugcwele ngokushesha uma udle. Ukukhathala okuqhubekayo okungaphuli ngokuphumula, kanye nokubulala kalula noma ukuphuza igazi, nazo zizimpawu ezibalulekile okufanele uzixoxe nodokotela wakho.

Uma unebuhlungu lwamathambo obuya bukhulu noma ukutheleleka okuvamile okubonakala kungavamile kuwe, lokhu kudinga ukuhlolwa kwezokwelapha. Ngaphezu kwalokho, uma unemlando womndeni wokuthakathaka kweGaucher futhi uhlela ukuba nezingane, ukwelulekwa kwezofuzo kungaba usizo kakhulu.

Kubazali, qaphela ukulibaziseka ekuthuthukeni, ubunzima bokuqeda ukudla, noma ukunyakaza kwamehlo okungavamile ezinganeni ezincane. Nakuba lezi zimpawu zingaba nezizathu eziningi, kufanele zixoxwe nodokotela wakho, ikakhulu uma kukhona umlando womndeni wezimo zezofuzo.

Ziyini izimbangela zengozi zokuthakathaka kweGaucher?

Imbangela eyinhloko yengozi yokuthakathaka kweGaucher iwumlando wakho wezofuzo. Njengoba kuyisimo esidluliselwa, ukuba nabazali abaphethe kokubili i-altered GBA1 gene yindlela eyinhloko ongaqala ngayo lesi sifo.

Ukuba ngumuntu wase-Ashkenazi Jewish kukwandisa kakhulu ingozi yakho, njengoba lesi sigaba sabantu sinezinga eliphezulu kakhulu lomthwali kunabantu abavamile. Cishe umuntu omunye ku-15 wabantu base-Ashkenazi Jewish uthwala igene, uma kuqhathaniswa nomuntu omunye ku-100 kubantu abavamile.

Ukuba nomlando womndeni wokuthakathaka kweGaucher, ngisho nasezihlotsheni ezikude, kungase kubonise ukuthi igene liphethwe emndenini wakho. Uma wazi noma yiziphi izihlotsheni ezazinezisu ezinkulu ezingachazwanga, izinkinga zamathambo, noma izifo zokopha igazi, lokhu kungase kube yinto ebalulekile.

Kubalulekile ukuqonda ukuthi awukwazi ukuthuthukisa ubuthakathaka beGaucher ngezinto zokuphila, ukutheleleka, noma ukukhishwa komkhathi. Kuyisimo sezofuzo kuphela ozelwe naso, nakuba izimpawu zingase zingabonakali kuze kube sekugcineni kokuphila.

Ziyini izinkinga ezingase zenzeke ngenxa yokuthakathaka kweGaucher?

Ukuqonda izinkinga ezingase zenzeke kungakusiza wena neqembu lakho lokunakekelwa kwezempilo ukulandelela isimo sakho nokuthatha izinyathelo zokuvimbela uma kungenzeka. Izinkinga eziningi zingavimbeka noma ziphathwe kahle ngokwelashwa okufanele.

Izinkinga ezivame kakhulu zihlanganisa amathambo namagazi. Izinkinga zamathambo zingabandakanya ubuhlungu obukhulu, ukweqa amathambo okuvela kalula kunokujwayelekile, kanye nesimo esibizwa ngokuthi i-avascular necrosis lapho izingxenye zethishu yamathambo ziyafa ngenxa yokuncane kwegazi.

Izinkinga ezihlobene negazi zenzeka ngoba isisu sakho esikhulu singase sibhubhise amaseli egazi ngokushesha kunokuba umzimba wakho ukwazi ukuwenza. Lokhu kungabangela ukuncane kwamaseli egazi, ukwanda kengozi yokopha igazi, kanye nethuba elikhulu lokutheleleka.

Kwezinye izimo, abantu bangase bathuthukise izinkinga zamaphaphu uma amaseli eGaucher eqoqa lapho, okubangela ubunzima bokuqeda umoya noma ukunciphisa ukukhuthazeka komzimba. Izinkinga zesibindi, nakuba zingavamile, zingabandakanya ukwakheka kwezindwangu noma, ngokungavamile, umdlavuza wesibindi.

Kwabantu abanezinye izinhlobo zeGaucher's disease, izinkinga zingabandakanya ukubamba, ubunzima bokuginya, nokulahlekelwa okukhulu kwamandla okuhamba. Noma kunjalo, ngokwelashwa kwamanje, izinkinga eziningi zingavimbeka noma zinciphisiwe kakhulu.

Ubuthakathaka beGaucher buxilongwa kanjani?

Ukuxilongwa kokuthakathaka kweGaucher ngokuvamile kuqala ngodokotela wakho elinganisa umsebenzi we-glucocerebrosidase enzyme egazini lakho. Lolu viwo oluqondile lwegazi lungabonisa ukuthi amazinga akho e-enzyme aphansi kunokujwayelekile, okuphakamisa kakhulu ubuthakathaka beGaucher.

Uma i-enzyme test iphakamisa ubuthakathaka beGaucher, udokotela wakho cishe uzokwenza i-genetic testing ukuqinisekisa ukuxilongwa nokubona ukuthi yiziphi izinguquko zezofuzo ozinazo. Lolu lwazi lusiza ukuqonda isimo sakho futhi luqondise izinqumo zokwelashwa.

Iqembu lakho lokunakekelwa kwezempilo lingase lisebenzise nezifundo zokubonisa njenge-CT scans noma i-MRI ukuhlola usayizi wesisu nesibindi, nokubuka izinguquko zamathambo. Lezi ziviwo zisiza ekuqondeni ukuthi isifo sithinte kanjani izingxenye ezahlukene zomzimba wakho.

Ngezinye izikhathi, odokotela bangase bahlole ubuhlalu lwamathambo akho ngaphansi kwesikrini ukuze babuke amaseli eGaucher, nakuba lokhu kungavamile manje njengoba ukuhlolwa kwegazi kuthembekile.

Yikuphi ukwelashwa kokuthakathaka kweGaucher?

Ukwelashwa kokuthakathaka kweGaucher kuye kwaqina kakhulu eminyakeni embalwa edlule, futhi abantu abaningi manje baphila impilo evamile, enempilo ngokuphathwa okufanele. Indlela eyinhloko yokwelashwa iwukwelashwa kokufakelwa kwe-enzyme, okunika umzimba wakho i-enzyme eyiphuthelwe.

Ukwelashwa kokufakelwa kwe-enzyme kuhilela ukufakwa kwe-intravenous infusions njalo emasontweni amabili, ngokuvamile, yenguqulo eyenziwe yomuntu ye-glucocerebrosidase. Lokhu kwelashwa kunganciphisa kakhulu ukukhula kwezitho, kwenze ukwanda kwamaseli egazi, futhi kunciphisa ubuhlungu lwamathambo ngokuhamba kwesikhathi.

Enye indlela yokwelashwa iwukwelashwa kokunciphisa i-substrate, okusebenzisa imithi yomlomo ukunciphisa ukukhiqizwa kwento enamanoni eqoqa ezintweni zakho. Le ndlela ingaba usizo ikakhulu kubantu abangakwazi ukuthola ukwelashwa kokufakelwa kwe-enzyme.

Ngokukhulu kwezifo zamathambo, udokotela wakho angase aphakamise imithi ebizwa ngokuthi i-bisphosphonates ukusiza ekuqiniseni amathambo akho nokunciphisa ingozi yokweqa amathambo. Ukuphathwa kobuhlungu, ukuqeqeshwa komzimba, nokulandelela njalo nazo zizingxenye ezibalulekile zokunakekelwa okuphelele.

Izindaba ezinhle ukuthi ukwelashwa kuphumelela kakhulu kubantu abaningi abanoHlobo 1 lokubuthakathaka beGaucher. Izimpawu eziningi ziyathuthuka kakhulu phakathi nezinyanga kuya eminyakeni yokuqala ukwelashwa, futhi ukubuka kwesikhathi eside kuvame ukuba kuhle kakhulu.

Ungaphatha kanjani ubuthakathaka beGaucher ekhaya?

Ukuphatha ubuthakathaka beGaucher ekhaya kuhilela ukuhlala uqine ngokwelashwa okunikeziwe nokwenza izinqumo zokuphila ezisekela impilo yakho yonke. Ukuthatha imithi yakho ngokuqondile njengoba kunikezwe yinto ebaluleke kakhulu ongayenza.

Ukudla ukudla okuhlanzekile, okunomsoco kungasiza ekusekeleni amazinga akho namandla nempilo yonke. Njengoba ungase ube sengozini enkulu yokweqa amathambo, ukuqinisekisa ukudla okwanele kwe-calcium ne-vitamin D kubalulekile ikakhulu empilweni yamathambo.

Ukuzivocavoca okuvamile, okulula kungasiza ekuqinisweni kwamathambo nokunciphiseni ukukhathala, kodwa hlola neqembu lakho lokunakekelwa kwezempilo mayelana nemisebenzi ephephile kuwe. Ukubhukuda nokuhamba ngezinyawo ngokuvamile kuyizinqumo ezinhle, kanti imidlalo yokuxhumana ingase idingeke ukuba ivinjelwe.

Kuhlakaniphile ukuthatha izinyathelo ezengeziwe zokugwema ukulimala okungabangela ukopha igazi, ikakhulu uma inani lama-platelet lakho liphansi. Lokhu kungase kusho ukusebenzisa isikhali sombane esikhulu kunesihlangu, ukugqoka izingubo zokulinda ngesikhathi semisebenzi, nokuqapha kakhulu izinto ezibukhali.

Hlala uxhumene neqembu lakho lokunakekelwa kwezempilo futhi ungangabazi ukubika izimpawu ezintsha noma ezibi kakhulu. Ukulandelela njalo kusiza ekuqapheni noma yiziphi izinguquko ekuqaleni nokwenza ukwelashwa kube ngcono njengoba kudingeka.

Kufanele uzilungiselele kanjani i-appointment yakho yasedokotela?

Ukulungiselela i-appointment yakho kungakusiza ukwenza kakhulu isikhathi sakho nodokotela wakho futhi kuqinisekise ukuthi zonke izinkinga zakho ziqondwa. Qala ngokubhala zonke izimpawu zakho, kufaka phakathi ukuthi zaqala nini nokuthi ziguquke kanjani ngokuhamba kwesikhathi.

Letha uhlu lwemithi yonke nezinye izinto ozithathayo, kufaka phakathi imithamo nokuthi uzithatha kangaki. Lungiselela futhi uhlu lwemibuzo ofuna ukuyibuza, ubeke phambili ebaluleke kakhulu uma isikhathi sifushane.

Uma unemininingwane yomlando womndeni, ikakhulu mayelana nezihlotsheni ezazinesisu, isibindi, noma izinkinga zamathambo ezingachazwanga, letha lokho. Imiphumela yokuvivinya yangaphambili, uma unayo, ingase ibe usizo ku-dokotela wakho ukuze ayihlole.

Cabanga ukuletha ilungu lomndeni othembekile noma umngani ukuze akusize ukukhumbula ulwazi oluxoxwe ngesikhathi se-appointment. Bangase banikeze ukwesekwa ngokomzwelo futhi basize ekuvikeleni izidingo zakho uma kudingeka.

Yini eyinhloko mayelana nobuthakathaka beGaucher?

Ubuthakathaka beGaucher buyisimo sezofuzo esiphatheka, futhi ukubuka kwabantu abaningi kuye kwaqina kakhulu ngokwelashwa kwamanje. Nakuba kuyisimo sokuphila konke, abantu abaningi abanobuthakathaka beGaucher baphila impilo egcwele, esebenzayo ngokunakekelwa kwezokwelapha okufanele.

Ukuxilongwa kwasekuqaleni nokuphathwa kuyisihluthulelo sokuvimbela izinkinga nokugcina impilo enhle. Uma ucindezela ukuthi ungase ube nobuthakathaka beGaucher, ungangabazi ukuxoxa izinkinga zakho nodokotela.

Khumbula ukuthi ukuba nesimo sezofuzo akusho ukuthi ungubani, futhi ngokwesekwa nokwelashwa okulungile, ungaqhubeka uphishekela imigomo yakho futhi uphile impilo ngezindlela zakho. Iqembu lakho lokunakekelwa kwezempilo likhona ukukusekela kuyo yonke inyathelo lendlela.

Imibuzo evamile ebuzwa mayelana nobuthakathaka beGaucher

Ingabe ubuthakathaka beGaucher bubulala?

Kubantu abaningi abanoHlobo 1 lokubuthakathaka beGaucher, lesi simo asiyona ingozi ekuphileni, ikakhulukazi ngokwelashwa okufanele. Uhlobo 2 lungaba nzima kakhulu futhi luthinte isikhathi sokuphila, kanti uhlobo 3 luyahluka kakhulu. Ukwelashwa kwamanje kuye kwaqina kakhulu imiphumela yazo zonke izinhlobo.

Ingabe ubuthakathaka beGaucher bungaphiliswa?

Okwamanje, ayikho impilo yokuthakathaka kweGaucher, kodwa ukwelashwa kuphumelela kakhulu ekulawuleni izimpawu nokugwema izinkinga. Ucwaningo mayelana nezinye izindlela zokwelapha, kufaka phakathi i-gene therapy, luqhubeka futhi lubonisa imiphumela ethenjisayo.

Ingabe izingane zami zizozula ubuthakathaka beGaucher?

Uma unebuthakathaka beGaucher, ngayinye yezingane zakho ine-50% ithuba lokuba ngumthwali kodwa izophuthuma lesi sifo kuphela uma umlingani wakho naye engumthwali. Ukwelulekwa kwezofuzo kungakusiza ukuqonda izingozi zakho nezindlela zakho ezithile.

Ngaziphilisa kangaki?

Abantu abaningi abamukela ukwelashwa kokufakelwa kwe-enzyme badinga ukufakwa njalo emasontweni amabili, nakuba abanye bangase badinge okuningi noma okuncane ngokuya ngokuthi basabela kanjani. Ukwelashwa kokunciphisa i-substrate ngokuvamile kuthathwa nsuku zonke. Udokotela wakho uzokunquma isimiso esifanele kuwe.

Ngingaphila impilo evamile ngokuthakathaka kweGaucher?

Yebo, abantu abaningi abanobuthakathaka beGaucher baphila impilo evamile ngokuphelele ngokwelashwa. Uvame ukusebenza, uqeqeshe, uhambe, futhi uhlanganyele ezintweni eziningi. Iqembu lakho lokunakekelwa kwezempilo lingakusiza ukuqonda noma yiziphi izikhawu ezikhethekile ngokuya ngesimo sakho.