Ngaba ngamanye amaxesha ukhe ube nentlungu emilenzeni yakho? Ngaba uneentlungu zesisu okanye isiyezi xa usukuma? Nangona ezi zinto zinokubonakala ngathi zizinto eziqhelekileyo, ngamanye amaxesha into efihlakeleyo emva kwesi sifo isenokuba sisifo esingaqhelekanga abantu abaninzi abangazange basive, kwaye sidluliselwa kwizizukulwana ngezizukulwana. Namhlanje siza kuthetha ngesifo esinye esinjalo, i-hATTR amyloidosis . Nangona esi sisihloko esinzima kancinci, masisiqonde ngokulula.
Yintoni i-hATTR Amyloidosis?
Ngamafutshane, i-hATTR (iHeredary Transthyretin Amyloidosis) sisifo esingaqhelekanga esidluliselwa kwizizukulwana ngezizukulwana kwaye siqhubeka sisiba mandundu ngokuhamba kwexesha. Isizathu kukutshintsha kwezakhi zofuzo zethu, okubizwa ngokuba yi-mutation.
Khawucinge ukuba yonke into emzimbeni wethu ilawulwa ziijini. Kukho ijini ebizwa ngokuba yi -TTR esibindini sethu. Xa kukho utshintsho kule jini, iproteni ebizwa ngokuba yi -'transthyretin' eveliswa yiyo ikwaba yimo engaqhelekanga, engalunganga.
Ezi proteins ezimile kakubi ziyahlangana kwaye zenze iidiphozithi ezibizwa ngokuba yi- 'amyloid ' kwimithambo-luvo yemizimba yethu nakwizitho ezahlukeneyo zomzimba. Njengokuba uthuli nomhlwa kuvala umbhobho wamanzi, ezi diphozithi ze-amyloid zonakalisa ezo zitho.
Le meko ibangela i-polyneuropathy, eyonakalisa imithambo-luvo esuka ebuchotsheni iye kwezinye iindawo zomzimba. Nangona le yimeko enzima, ngonyango olufanelekileyo, iimpawu zinokulawulwa kwaye ubomi buqhubeke.
Zithini iimpawu zesifo se-hATTR?
Ngenxa yokuba isifo se-haTTR sichaphazela amalungu amaninzi emzimbeni, iimpawu zahlukile kakhulu. Ngamanye amaxesha ezi mpawu ziyafana nezezinye izifo eziqhelekileyo, ngoko ke kunokuba nzima ukufumanisa esi sifo.
Jonga itheyibhile engezantsi ukuze ubone ukuba zeziphi ezi mpawu .
| Inkqubo/ilungu elichaphazelekayo | Iimpawu ezinokwenzeka |
|---|---|
| Inkqubo yeNervous | Ukuba ndindisholo, ukurhawuzelela, iintlungu, uze emva koko ulahlekelwe zimvakalelo ezandleni nasezinyaweni. I-Carpal Tunnel Syndrome. Ubunzima bokuhamba. |
| Intliziyo kunye nokujikeleza kwegazi | Ukubetha kwentliziyo okungaqhelekanga, ukwandiswa kwentliziyo, ukuhlaselwa yintliziyo. Uxinzelelo lwegazi oluphantsi kunye nokuquleka xa umile. |
| Inkqubo yoKutya | Ukutshintshana kwesisu kunye nokuqhina ngaphandle kwesizathu. Ukuziva ugcwele nangona utye kancinci. Ukunciphisa umzimba. |
| Izintso kunye neNkqubo yomchamo | Ubunzima bokuchama. Ukungasebenzi kakuhle kwezintso. |
| Amehlo | Amehlo omileyo, uxinzelelo oluphezulu lwamehlo (i-glaucoma), umbono ofipheleyo. |
Khumbula, uninzi lwezi mpawu lunokuba yingozi ebomini, ingakumbi iingxaki zentliziyo. Ngoko ke ukuba unezinye zezi mpawu, ingakumbi ukuba umntu kusapho lwakho ukhe waba nesi sifo, bonana nogqirha ngokukhawuleza.
Isifo se-haATTR sifunyanwa njani?
Ngenxa yokuba esi sifo sinqabile kwaye iimpawu zifana nezinye izifo, kunokuba nzima ukuxilonga. Kodwa ugqirha ugxila kwizinto ezimbalwa.
- Imbali yezonyango yosapho : Buza ukuba kukho nabani na kusapho lwakho okhe wahlaselwa yintliziyo, waqina izihlunu zentliziyo, okanye ezinye iingxaki zemithambo-luvo.
- Ukubuza ngeempawu: Ukubuza ukuba unazo na ezi mpawu zikhankanyiweyo apha ngasentla.
- Uvavanyo lweMfuzo: Isampuli yegazi okanye isampulu yeseli yesikhumba iyavavanywa ukuze kubonwe ukuba kukho utshintsho kwi-TTR gene. Le yeyona ndlela icacileyo yokuqinisekisa isifo.
- I-Tissue Biopsy : Inani elincinci lamafutha angaphantsi kwesikhumba sesisu lithathwa ngenaliti encinci lize lihlolwe ngemakroskopu ukuze kubonwe ukuba kukho na ii-amyloid deposits. Musa ukukhathazeka, olu ayilotyando lukhulu kwaye lunokwenziwa ngokukhawuleza.
- Ezinye iimvavanyo:Uvavanyo lwegazi nomchamo, uvavanyo lokusebenza kwemithambo-luvo, kunye novavanyo olufana ne-ECG kunye ne-Echo lokujonga ukusebenza kwentliziyo nako kunokwenziwa.
Ziziphi iindlela zonyango ze-hATTR?
Kukho iinjongo ezimbini eziphambili ekunyangeni isifo se-hATTR. Enye kukulawula iimpawu, enye kukunciphisa okanye ukuyeka ukuveliswa kunye nokugcinwa kweproteni engalunganga emzimbeni.
Unyango lweempawu
- Amayeza anikwa iingxaki zentliziyo kunye nokuqokelelana kolwelo emzimbeni .
- Kunikwa amayeza kwiingxaki zenkqubo yokugaya ukutya ezifana norhudo kunye nokuqhina.
- Amayeza asetyenziselwa ukulawula iintlungu zemithambo-luvo.
Unyango olujoliswe kwisizathu sesifo
Ezi zezona ndlela zonyango ziphambili ezinokutshintsha indlela esihamba ngayo esi sifo.
- Amayeza Okuthulisa Izifo Zeejini: La mayeza asebenza ngokuthintela i-TTR gene esibindini ekuveliseni iproteni engalunganga. `Inotersen`, `Patisiran`, `Vutrisiran` zezinye zezi ziyobisi. Ezinye zezi zifumaneka njengeenaliti zeveki nganye, ngelixa ezinye zinikwa ngemithambo rhoqo emva kweeveki ezi-3.
- Amayeza Okuzinzisa Izakhi Zofuzo: La mayeza asebenza ngokuthintela iproteni ye-TTR egobileyo ukuba ingadibani kwaye yenze ii-amyloid deposits. `Tafamidis` kunye ne`Diflunisal` ngamayeza kolu didi.
- Ukufakelwa kwesibindi: Ekubeni iproteni engalunganga iveliswa esibindini, ukufakelwa kwesibindi kunokulawula ukusasazeka kwesifo. Nangona kunjalo, olu lutyando olukhulu. Kwaye luphumelela kuphela kwizigaba zokuqala zesifo.
Iqela lezonyango elikuncedayo
Ngenxa yokuba esi sifo sichaphazela amalungu amaninzi omzimba, kuya kufuneka uncedo lweengcali ezininzi.
| Ugqirha oyingcali | Uncedo abalufumanayo |
|---|---|
| Ingcali yezifo zengqondo | Ukulawula umonakalo wemithambo-luvo kunye nentlungu. |
| Ingcali yentliziyo | Ukujonga iziphumo entliziyweni kunye nokubonelela ngonyango oluyimfuneko. |
| Ingcali yezifo ze-nephrological | Ukujonga ukusebenza kwezintso kunye nokunceda ekuzikhuseleni. |
| Umcebisi wezeMvelo | Cacisa indlela esi sifo esikuchaphazela ngayo wena nosapho lwakho. |
| Ingcali yoNyango lomzimba | Ukubonelela ngemithambo yokunciphisa ubunzima bokuhamba kunye neentshukumo zomzimba. |
Umyalezo Wokuya Ekhaya
- I-hATTR sisifo esiyingozi esibangelwa lufuzo esiba mandundu ngokuhamba kwexesha.
- Ukuba uneempawu ezifana nokungaziva mnandi kwamalungu omzimba, isifo sentliziyo, okanye isisu esibuhlungu, ingakumbi ukuba kukho umntu kusapho lwakho okhe waba nesi sifo, musa ukusithatha lula.
- Okukhona esi sifo sifunyanwa ngokukhawuleza, kokukhona iziphumo zonyango zingcono.
- Ngoku kukho amayeza kunye nonyango olusebenzayo kakhulu lokulawula esi sifo. Ngoko ke akukho mfuneko yokoyika.
- Ukuba unemibuzo malunga nesi sifo, ungoyiki ukuthetha nogqirha wakho.
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