Ingabe ngezinye izikhathi uzwa ubuhlungu besisu noma isiyezi lapho usukuma? Nakuba lokhu kungase kubonakale njengezinto ezivamile, ngezinye izikhathi okufihliwe ngemuva kwalokhu kungaba yisifo esingavamile abantu abaningi abangakaze basizwe, futhi esidluliselwa ezizukulwaneni ngezizukulwane. Namuhla sizokhuluma ngesifo esisodwa esinjalo, i-hATTR amyloidosis . Nakuba lesi kuyisihloko esiyinkimbinkimbi, masisiqonde kalula.
Kuyini i-hATTR Amyloidosis?
Kalula nje, i-hATTR (i-Heroditary Transthyretin Amyloidosis) yisifo esingavamile esidluliselwa kusuka esizukulwaneni kuya kwesinye futhi siba sibi kancane kancane ngokuhamba kwesikhathi. Imbangela ushintsho ezakhiweni zethu zofuzo, olubizwa ngokuthi ukuguqulwa kwezakhi zofuzo.
Ake sithi konke emzimbeni wethu kulawulwa izakhi zofuzo. Kukhona isakhi sofuzo esibizwa nge -TTR esibindini sethu. Uma kukhona ukuguquka kwalesi sakhi sofuzo, iphrotheni ebizwa ngokuthi 'i-transthyretin' ekhiqizwa yiso nayo iba nesimo esingavamile nesingalungile.
Lawa maprotheni angenasimo esihle ayahlangana futhi akhe ama-deposit abizwa ngokuthi ' i-amyloid ' emithanjeni yomzimba wethu nasezithweni ezahlukahlukene. Njengoba nje ukungcola nokugqwala kuvala ipayipi lamanzi, la ma-deposit e-amyloid alimaza lawo malungu.
Lesi simo sibangela i-polyneuropathy, okuwumonakalo ezinzwa ezisuka ebuchosheni ziye kwezinye izingxenye zomzimba. Nakuba lesi kuyisimo esibi kakhulu, ngokwelashwa okufanele, izimpawu zingalawulwa futhi impilo ingaqhubeka.
Ziyini izimpawu zesifo se-hATTR?
Ngenxa yokuthi isifo se-haTTR sithinta izitho eziningi zomzimba, izimpawu ziyahlukahluka kakhulu. Ngezinye izikhathi lezi zimpawu zifana nezezinye izifo ezivamile, ngakho kungaba nzima ukuthola lesi sifo.
Bheka ithebula elingezansi ukuze uthole ukuthi lezi zimpawu ziyini.
| Uhlelo/isitho esithintekile | Izimpawu ezingaba khona |
|---|---|
| Uhlelo Lwezinzwa | Ukuba ndikindiki, ukuqaqamba, ubuhlungu, bese kuba ukulahlekelwa umuzwa ezandleni nasezinyaweni. I-Carpal Tunnel Syndrome. Ubunzima bokuhamba. |
| Inhliziyo Nokujikeleza Kwegazi | Ukushaya kwenhliziyo okungajwayelekile, ukuvuvukala kwenhliziyo, ukuhlaselwa yinhliziyo. Umfutho wegazi ophansi kanye nokuquleka uma umile. |
| Uhlelo Lokugaya Ukudla | Ukushintshana ngohudo kanye nokuqunjelwa ngaphandle kwesizathu. Ukuzizwa ugcwele ngisho nangemva kokudla kancane. Ukwehlisa isisindo. |
| Izinso kanye nesistimu yomchamo | Ubunzima bokuchama. Ukusebenza kwezinso okungasebenzi kahle. |
| Amehlo | Amehlo omile, ukucindezeleka kwamehlo okwenyuka (i-glaucoma), ukubona okufiphele. |
Khumbula, eziningi zalezi zimpawu zingasongela impilo, ikakhulukazi izinkinga zenhliziyo. Ngakho-ke uma unezinye zalezi zimpawu, ikakhulukazi uma othile emndenini wakho eke waba nalesi sifo, xhumana nodokotela ngokushesha.
Isifo se-hATTR sitholakala kanjani?
Ngenxa yokuthi lesi sifo asivamile futhi izimpawu zifana nezinye izifo, kungaba nzima kancane ukusithola. Kodwa udokotela ugxila ezintweni ezimbalwa.
- Umlando wezokwelapha womndeni : Buza ukuthi kukhona yini emndenini wakho oke waba nokuhlaselwa yinhliziyo, ukuqina kwemisipha yenhliziyo, noma ezinye izifo zezinzwa.
- Ukubuza ngezimpawu: Ukubuza ukuthi unazo yini izimpawu ezibalwe ngenhla.
- Ukuhlolwa Kwezakhi Zofuzo: Isampula yegazi noma isampula yeseli lesikhumba iyahlolwa ukuze kubonakale ukuthi kukhona yini ukuguquka kwezakhi zofuzo ze-TTR. Lena yindlela ecacile kakhulu yokuqinisekisa lesi sifo.
- Ukuhlolwa Kwezicubu: Inani elincane lamafutha ngaphansi kwesikhumba sesisu lithathwa ngenaliti encane bese lihlolwa ngaphansi kwe-microscope ukuze kubonakale ukuthi kukhona yini ama-amyloid deposits. Ungakhathazeki, lokhu akuyona inqubo enkulu futhi kungenziwa ngokushesha.
- Ezinye izivivinyo:Ukuhlolwa kwegazi nomchamo, ukuhlolwa kokusebenza kwezinzwa, kanye nokuhlolwa okufana ne-ECG kanye ne-Echo ukuhlola ukusebenza kwenhliziyo nakho kungenziwa.
Yiziphi izindlela zokwelapha i-hATTR?
Kunemigomo emibili eyinhloko ekwelapheni isifo se-hATTR. Eyokuqala ukulawula izimpawu, kanti enye ukunciphisa noma ukuvimba ukukhiqizwa kanye nokufakwa kweprotheni enephutha emzimbeni.
Ukwelashwa kwezimpawu
- Imithi inikezwa izinkinga zenhliziyo kanye nokuqongelela koketshezi emzimbeni .
- Kunikezwa imithi yezinkinga zesistimu yokugaya ukudla ezifana nesifo sohudo kanye nokuqunjelwa.
- Imithi isetshenziselwa ukulawula ubuhlungu bemizwa.
Ukwelashwa okuhloswe ngakho imbangela yesifo
Lezi izindlela zokwelapha eziyinhloko ezingashintsha indlela isifo esiqhubeka ngayo.
- Imithi Yokuthulisa Izakhi Zofuzo: Le mithi isebenza ngokuvimba i-TTR gene esibindini ukuthi ikhiqize iphrotheni engalungile. I-`Inotersen`, `Patisiran`, `Vutrisiran` ngezinye zale mithi. Eminye yale mithi iyatholakala njengemijovo yamasonto onke, kanti eminye inikezwa ngemithambo yegazi njalo emavikini ama-3.
- Imithi Yokuzinzisa Izakhi Zofuzo: Le mithi isebenza ngokuvimbela iphrotheni ye-TTR egoqekile ukuthi ingahlangani ndawonye futhi yakhe ama-amyloid deposits. I-`Tafamidis` kanye ne-`Diflunisal` yimithi kulesi sigaba.
- Ukufakelwa Kwesibindi: Njengoba iphrotheni enephutha ikhiqizwa esibindini, ukufakelwa kwesibindi kungalawula kakhulu ukusabalala kwesifo. Kodwa-ke, lokhu kuwukuhlinzwa okukhulu. Futhi kuphumelela kuphela ezigabeni zokuqala zesifo.
Ithimba lezokwelapha elikusizayo
Ngenxa yokuthi lesi sifo sithinta izingxenye eziningi zomzimba, uzodinga usizo lochwepheshe abaningi.
| Udokotela ochwepheshe | Usizo abalutholayo |
|---|---|
| Udokotela wezinzwa | Ukuphatha ukulimala kwemizwa kanye nobuhlungu. |
| Udokotela wenhliziyo | Ukuqapha imiphumela enhliziyweni nokunikeza ukwelashwa okudingekayo. |
| Udokotela Wezinzwa | Ukuhlola ukusebenza kwezinso nokusiza ekuzivikeleni. |
| Umeluleki Wezakhi Zofuzo | Chaza ukuthi lesi sifo sikuthinta kanjani wena nomndeni wakho. |
| Udokotela Wezokwelapha Umzimba | Ukunikeza izivivinyo zokunciphisa ubunzima bokuhamba kanye nokunyakaza komzimba. |
Umlayezo Wokuya Nawe Ekhaya
- I-hATTR yisifo esibi kakhulu esiba sibi ngokuhamba kwesikhathi.
- Uma unezimpawu ezifana nokuba ndikindiki ezithweni zakho, isifo senhliziyo, noma ukuphatheka kabi kwesisu, ikakhulukazi uma othile emndenini wakho eke waba nalesi sifo, ungasithathi kalula.
- Uma lesi sifo sitholakala ngokushesha, imiphumela yokwelashwa iba ngcono.
- Manje kunemithi nezindlela zokwelapha ezisebenza kahle kakhulu zokulawula lesi sifo. Ngakho-ke asikho isidingo sokwesaba.
- Uma unemibuzo ngalesi sifo, ungesabi ukukhuluma nodokotela wakho.
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