Ngaba izandla neenyawo zakho ziyathuthumela nje? Okanye uziva uhluthi nasemva kokutya ukutya okuncinci, okanye uziva ungonwabanga esiswini ngendlela engaqhelekanga? Ngamanye amaxesha sicinga ukuba ezi zizinto eziqhelekileyo, kodwa emva kwazo kunokubakho isifo esibi kakhulu, kodwa esingaqhelekanga esingathethwayo mntu. Namhlanje siza kuthetha ngesifo esinjalo, esidluliselwa kwizizukulwana ngezizukulwana , kwaye esiba mandundu kancinci kancinci. Eso sisifo esibizwa ngokuba yi-hATTR Amyloidosis.
Ngamafutshane, yintoni i-hATTR Amyloidosis?
Igama elipheleleyo lale nto yiHeroditary Transthyretin Amyloidosis. Siza kuyibiza ngokuthi yi-hATTR ngamafutshane. Esi sisifo esingaqhelekanga esizuzwa njengelifa, oko kuthetha ukuba sidluliselwa ngeejini.
Khawucinge nje, isibindi somzimba wethu senza iproteni ekhethekileyo ebizwa ngokuba yi -transthyretin (TTR) . Kumntu ophilileyo, le proteni yenza umsebenzi wayo ize ilahleke. Nangona kunjalo, kumntu onesifo se-hATTR, ngenxa yokuguquka kwejini, le protein ye-TTR iveliswa ikwimo engalunganga. Ifana nethoyi eyenziwe kakuhle eqhekekayo.
Ezi protein zigobile kakuhle ziyadibana zenze amaqhekeza amancinci. Sizibiza ngokuba zii-protein clumps ii-amyloids . Ezi amyloids ziqala ukugcwala kwiindawo ezahlukeneyo zomzimba wethu, ingakumbi kwizitho ezifana nemithambo-luvo, intliziyo, kunye nezintso. Njengothuli olunamathelayo kumbhobho wamanzi, ezi protein deposits ziqala ukonakalisa ezo zitho. Oku kunokubangela iingxaki ezinkulu kwaye kube yingozi kubomi. Kodwa iindaba ezimnandi zezokuba ngoku kukho unyango olufanelekileyo lokulawula ezi mpawu.
Ugqirha wakho usenokuyibiza nje ngokuthi yi-"Amyloidosis," kuba i-hATTR lolunye uhlobo lweqela lezifo ezibizwa njalo.
Ziziphi iimpawu ezinokubakho zesifo se-hATTR?
Ngenxa yokuba esi sifo sichaphazela amalungu amaninzi omzimba, iimpawu zahlukile kakhulu. Ngamanye amaxesha ezi mpawu ziyafana nezezinye izifo eziqhelekileyo, ngoko ke kunokuba nzima ukufumanisa esi sifo.
Ichaphazela kakhulu inkqubo yemithambo-luvo. Xa ezi proteni ziqokelelana kwimithambo-luvo esuka ebuchotsheni iye emzimbeni wonke, le meko siyibiza ngokuba yiPolyneuropathy . Ngoko ke ungahlangabezana nezinto ezinje.
| Inkqubo echaphazelekayo | Iimpawu ezinokwenzeka |
|---|---|
| Inkqubo yeNervous |
|
| Intliziyo | |
| Inkqubo yoKutya | |
| Ezinye iimpawu |
Okubaluleke kakhulu, ukwandiswa kwentliziyo kunye nokubetha kwentliziyo okungahambelaniyo okubangelwa sesi sifo kunokuba yingozi ebomini. Ngoko ke, kufuneka ulumke kakhulu ngezi mpawu.
Sivela njani esi sifo? Ngubani osengozini?
Njengoko igama lisitsho, esi sisifo esizuzwa njengelifa . Ukuba unesi sifo, kungenxa yokuba uzuze i-gene enesiphene kumama okanye kutata wakho (okanye bobabini).
Esi sisifo sithathwa njengesifo esingaqhelekanga kakhulu ehlabathini. Nangona kunjalo, kwamanye amazwe, umzekelo, ePortugal, eJapan, naseBrazil, esi sifo sixhaphakile. Nangona kungekho datha ithile ingako ngesi sifo eSri Lanka, kukholelwa ukuba kunokubakho inani elikhulu lezigulana ezingafumani ngxelo ichanekileyo kuba iimpawu ziyafana nezinye izifo.
Iimpawu zingabonakala nakubani na ubudala, ngesiqhelo ziphakathi kweminyaka engama-30 ukuya kwengama-70 ubudala. Zichaphazela amadoda nabafazi ngokulinganayo.
Ugqirha usifumanisa njani esi sifo?
Ukuchonga esi sifo kunokuba nzima kancinci kuba sineempawu ezininzi.
Ukubuza ngembali yosapho kunye neempawu
Okokuqala, ugqirha uza kukubuza wena nosapho lwakho ngembali yakho yempilo.
- Ngaba kukho umntu kusapho lwakho onesifo sentliziyo okanye intliziyo yakhe iqina?
- Ngaba uziva ungenazimvakalelo okanye utshile emalungeni akho?
- Ingaba unengxaki yesisu, urhudo, okanye ukuqhinwa?
- Ngaba uziva unesiyezi xa umi?
- Ngaba unengxaki yokubona?
Uvavanyo olukhethekileyo
Ngokuxhomekeke kwiimpawu zakho, ugqirha wakho unokucebisa ezinye iimvavanyo ezininzi.
- Uvavanyo lwegazi nomchamo: Olu vavanyo lunceda ukujonga amanqanaba eeprotheyini angaqhelekanga emzimbeni.
- I-Biopsy yeTishu: Le yeyona ndlela iphambili yokuqinisekisa isifo. Ngokwesiqhelo, iqhekeza elincinci lethishu lithathwa kwi-fat pad phantsi kwesikhumba sesisu sakho phantsi kwe-anesthesia lize lithunyelwe kwilebhu. Lingasetyenziswa ukubona ukuba iproteni ye-amyloid esithethe ngayo ifakiwe na.
- Uvavanyo lweMfuzo: Nje ukuba i-biopsy iqinisekise ukuba kukho i-amyloid, uvavanyo lwe-DNA lwenziwa ukuze kuqinisekiswe ukuba yi-hATTR yelifa okanye olunye uhlobo lwe-amyloidosis. Oku kubaluleke kakhulu ekucwangciseni unyango.
- Ezinye iimvavanyo: Uvavanyo lwe-ECG kunye ne-Echo lokujonga ukusebenza kwentliziyo, kunye nophando lokuqhuba imithambo-luvo lokujonga ukusebenza kwemithambo-luvo nalo lunokwenziwa.
Ngenxa yokuba esi sisifo esingaqhelekanga, ayingabo bonke oogqirha abanamava amaninzi ngaso. Kungoko ke, kubaluleke kakhulu ukufuna uluvo lwesibini komnye uchwepheshe emva kokuba uxilongo luqinisekisiwe.
Ziziphi iindlela zonyango zesi sifo?
Unyango lwe-hATTR luxhomekeke kwiimpawu zakho kunye nenqanaba lesi sifo. Kukho iinjongo ezimbini eziphambili zonyango. Enye kukulawula iimpawu. Enye kukulawula ukuveliswa kweproteni ye-TTR engaqhelekanga, eyimbangela eyintloko yesi sifo.
1. Unyango lweempawu
- Ukuba amanzi aqokelelana emzimbeni ngenxa yeengxaki zentliziyo okanye zezintso, kusetyenziswa amayeza okukhupha ulwelo olongezelelweyo.
- Kukwakho namayeza eengxaki zenkqubo yokugaya ukutya ezifana norhudo kunye nentlungu yesisu.
- Kukwakho namayeza akhethekileyo okulawula iintlungu zemithambo-luvo.
2. Unyango olujolise kwisizathu sesifo
Ezi zezona ndlela zonyango ziphambili ezithintela ukuba isifo singabi mandundu.
| Indlela yonyango | Inkcazo |
|---|---|
| Amayeza okubulala iijini | |
| Iziyobisi ezifana ne -Inotersen, Patsiran, Vutrisiran | La mayeza asebenza ngokuxelela i-gene evelisa iproteni ye-TTR esibindini ukuba "icime." Oku kunciphisa ukuveliswa kweproteni engaqhelekanga. Anikwa njengenaliti. |
| IziQinisekisi zeProteni (Amayeza okuQinisekisa iZizalo) | |
| Iziyobisi ezifana neTafamidis, iDiflunisal | La mayeza asebenza ngokuncamathisela kwiproteni ye-TTR eveliswayo kwaye ayithintele ukuba ihlangane ngendlela engafanelekanga. La mayeza anokuthatyathwa njengeepilisi. |
| Ukufakelwa kwesibindi | |
| Utyando | Ekubeni iproteni engalunganga iveliswa esibindini, olunye unyango kukutshintsha isibindi ngolunye olutsha. Kodwa olu lutyando olukhulu kakhulu nolunobungozi. Ludla ngokucetyiswa kwizigulane eziselula ezikwinqanaba lokuqala lesi sifo. |
Ugqirha wakho uza kugqiba ukuba loluphi unyango olukulungeleyo. Thetha naye ngokukhululekileyo ngazo zonke ezi ndlela.
Iqela lezonyango elikuncedayo
Ngenxa yokuba esi sifo sichaphazela amalungu amaninzi emzimbeni, uya kufuna inkxaso yeqela loogqirha abanezakhono ezahlukeneyo.
- Ingcali yezifo zengqondo: Kwiingxaki ezinxulumene nemithambo-luvo.
- Ingcali yentliziyo: Ukujonga nokunyanga ukusebenza kwentliziyo.
- Ingcali yezifo ze-Nephrologist: Ukuba izintso zichaphazelekile.
- Ingcali yesisu: Ngeengxaki zesisu.
- Ingcali yamehlo: Ngeengxaki zamehlo.
- Umcebisi wezeMvelo: Ukubonelela ngokuqonda ngesi sifo kunye nempembelelo yaso kwimfuza.
- Ingcali yoNyango: Ukunceda xa uhamba nzima kwaye ugcine umzimba uqinile.
Umyalezo Wokuya Ekhaya
- I-hATTR Amyloidosis yimeko engaqhelekanga, efunyanwa njengelifa.
- Ukuba unezinto ezinje ngokuba ndindisholo kwamalungu omzimba, isisu esibuhlungu rhoqo, iimpawu zentliziyo ezingachazekiyo, kwaye ukuba kukho umntu kusapho lwakho okhe waba nezi meko, musa ukuzithatha lula.
- Ukuxilongwa kwangoko kunye nonyango kunokunceda ukuthintela ukuba isifo singabi mandundu.
- Ngenxa yokuba esi sisifo esintsonkothileyo, kubaluleke kakhulu ukufuna uncedo kwiingcali ezahlukeneyo.
- Ukuba wena okanye umntu omaziyo unale mpawu, funa ingcebiso kugqirha ofanelekileyo ngoko nangoko . Musa ukoyika ukuthetha ngayo.
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