Kuvamile ukuzizwa wesaba, udidekile, futhi unemibuzo eminingi uma uthola ukuthi unesifo esingavamile esibizwa ngokuthi ' i-hATTR amyloidosis '. Ungesabi, noma ngabe igama lizwakala liyinkimbinkimbi kancane. Kulesi sihloko, sizozama ukukuchazela ngendlela elula. Ikakhulukazi uma lokhu kungokokuqala ubona udokotela ngalesi simo, sizoxoxa ngendlela engcono yokusilungiselela.
Kalula nje, iyini i-hATTR Amyloidosis?
Kalula nje, yisifo esizuzwe njengefa esibangelwa ushintsho noma ukuguquka kwezakhi zofuzo okuthiwa i-TTR emzimbeni wethu. Lokhu kuguquka kwezakhi zofuzo kubangela ukwakheka kwephrotheni engavamile ebizwa ngokuthi i-amyloid emzimbeni wethu.
Cabanga ngakho njengomgodi ovalekile, la maprotheni e-amyloid aqala kancane kancane ukuqoqana ezithweni ezibalulekile njengenhliziyo yethu, izinso, isimiso sezinzwa, kanye nesistimu yokugaya ukudla. Uma ziqoqana, lezo zitho azikwazi ukwenza imisebenzi yazo evamile kahle. Yilapho izimpawu ziqala khona ukubonakala.
Ulungiselela kanjani ngaphambi kokuya kudokotela?
Kubaluleke kakhulu ukulungiselela kancane ngaphambi kokubonana nodokotela wakho wokuqala. Naka lezi zinto.
1. Yazi umlando wezempilo womndeni wakho ngokunembile
Lokhu kuyinto ebaluleke kakhulu. I-hATTR Amyloidosis isifo esidluliselwa ngofuzo. Kwezokwelapha, sikubiza ngokuthi 'i-autosomal dominant'. Lokhu kusho ukuthi uma omunye wabazali bakho ene-gene mutation ehlobene nalesi sifo, unethuba elingu-50% lokusizuza njengefa.
Ngakho-ke, uma umama wakho, ubaba, izingane zakini, noma izingane zakho zinalesi sifo, kuwukuhlakanipha ukukhuluma nodokotela wakho mayelana nokuhlolwa kwezakhi zofuzo, noma ngabe awunazo izimpawu.
2. Thatha yonke imibiko yokuhlolwa onayo.
Uma usuvele uke wahlolwa izakhi zofuzo, njengokuhlolwa kwegazi noma ukuhlolwa kwamathe, okubheka izakhi zofuzo ze-TTR, qiniseka ukuthi uletha yonke leyo mibiko. Kunezinhlobo ezingaphezu kuka-120 zokuguqulwa kwezakhi zofuzo ze-TTR. Ezinye izinhlobo zokuguqulwa kwezakhi zofuzo zivame kakhulu ezinhlotsheni ezithile zohlanga.
| Uhlobo lwe-TTR Gene | Amaqembu ezinhlanga avame kakhulu |
|---|---|
| I-ATTR V30M | Abantu abadabuka ePutukezi, eSpanishi, eFrance, eSweden noma eJapane. |
| I-ATTR V122I | Itholakala cishe ku-4% wabantu abansundu baseMelika. |
| I-ATTR T60A | Kuvamile kubantu base-United Kingdom nase-Ireland. |
Okubalulekile: Ngisho noma ukuhlolwa kwakho kofuzo kuqinisekisa ukuthi une-TTR gene mutation, akusho ukuthi nakanjani uzoba ne-hATTR. Udokotela wakho uzokwenza ezinye izivivinyo eziningana ukuqinisekisa ukuxilongwa.
Yiziphi izivivinyo udokotela angaziyala?
Uma usola ukuthi unalesi sifo noma usuvele utholakale ukuthi unesifo, udokotela wakho uzoqala akuhlole kahle (ukuhlolwa ngokomzimba). Ngaphezu kwalokho, kungacelwa ukuthi kwenziwe izivivinyo ezilandelayo ukuqinisekisa lesi sifo nokuqapha inqubekela phambili yaso:
- I-Biopsy : Lesi isivivinyo esibaluleke kakhulu sokuqinisekisa lesi sifo. Lokhu kuvame ukuhilela ukuthatha ingxenye encane kakhulu yezicubu esiswini sakho noma kwenye indawo bese uyihlola ngaphansi kwe-microscope ukuze ubone ukuthi kukhona yini ama-amyloid deposits.
- Ukuhlolwa kwegazi nomchamo: Lokhu kuhlolwa kubheka amaprotheni athile egazini noma emchameni angabonisa lesi sifo.
- I-Scintography: Lokhu kuskena okukhethekile ukuhlola ukubekwa kwe-amyloid enhliziyweni.
- Ukuhlola ukusebenza kwenhliziyo : Uma isifo sesitholakele, kungenziwa ama-scan anjenge -echocardiogram noma i-MRI yenhliziyo ukuze kubonakale ukuthi kungakanani umonakalo owenziwe enhliziyweni.
- Ukuhlolwa kokuqhuba imizwa: Lokhu kuhlolwa kusiza ekunqumeni ukuthi kukhona yini ukulimala kwemizwa.
Udokotela ubuza ngezimpawu zakho!
Udokotela uzobuza nakanjani ukuthi, "Uzizwa kanjani?" Kubaluleke kakhulu ukumtshela nganoma yiziphi izimpawu ongase ube nazo, ngisho nezincane kakhulu. Lokhu kungenxa yokuthi lesi sifo singathinta izingxenye eziningi zomzimba. Uma unezinye zezimpawu ezilandelayo, tshela udokotela wakho ngazo.
| Uhlelo oluthintekile | Izimpawu ezingase zizwakale |
|---|---|
| Ukulimala kwemizwa | Ukuba ndikindiki, ukuqaqamba, ubuhlungu, ukulahlekelwa umuzwa wokushisa/ukubanda, ukulahlekelwa ukulawula umzimba, ubuthakathaka, kanye nesifo somhubhe we-carpal. |
| Ukulimala kwenhliziyo | Izimpawu zokwehluleka kwenhliziyo njengokukhathala, ukukhathala njalo, ukuvuvukala kwemilenze, kanye nesiyezi. |
| Ukulimala ohlelweni lwezinzwa oluzimele (uhlelo olulawula okwenzekayo ngaphandle kwamandla ethu) | Ukutheleleka njalo komgudu womchamo, ukushintsha kokujuluka, isiyezi lapho umile, ukungasebenzi kahle kocansi, isicanucanu, ukuhlanza, isisu esibuhlungu, uhudo, noma ukuqunjelwa. |
| Ezinye izici | Izimpawu ezifana nokungaboni kahle, ikhanda elibuhlungu, ukulahlekelwa yinkumbulo, ukuxhuzula, noma isifo sohlangothi. |
Yiziphi izindlela zokwelapha lokhu?
Eminyakeni eminingi edlule, ukwelashwa kwalesi sifo kuphela kwakuwukufakelwa isibindi . Ngenhlanhla, manje kunemithi eminingi yesimanje engalawula izinga lokuqhubeka kwalesi sifo. Udokotela wakho uzokhetha ukwelashwa ngokusekelwe ezintweni ezintathu:
1. Izimpawu zakho
2. Isitho esithintekile
3. Isigaba salesi sifo
Isifo se-hATTR sihlukaniswe ngezigaba ezine eziyinhloko.
- Isigaba 0:Ukuguqulwa kwezakhi zofuzo ze-TTR kukhona, kodwa azikho izimpawu.
- Isigaba I: Ungahamba ngendlela evamile, kodwa ungase ube nezimpawu ezincane ze-neuropathy, njengokuba ndikindiki nobuhlungu emilenzeni nasezinyaweni zakho.
- Isigaba II: Kudinga usizo ukuze uhambe. Izimpawu ze-neurological nazo zimbi kakhulu ezingalweni, emilenzeni nasesiqwini.
- Isigaba III: Izimpawu zinzima kakhulu kangangokuthi zihlala esihlalweni sabakhubazekile noma embhedeni.
Kunezindlela eziningana zokwelapha:
- Izithulisi zezakhi zofuzo ze-TTR: Le mithi isebenza ngokunciphisa ukukhiqizwa kweprotheyini ye-TTR eyinkinga. Lokhu kunciphisa ukubekwa kwe-amyloid. Izibonelo: `Patisiran (Onpattro)`, `Inotersen (Tegsedi)`, `Vutrisiran (Amvuttra)`.
- Iziqinisi ze-TTR: Lokhu kusebenza ngokuvimbela iphrotheni ye-TTR ukuthi ingagoqeki kahle futhi yakhe ama-amyloid deposits. Izibonelo: `Tafamidis (Vyndamax, Vyndaqel)`.
- Ama-Amyloid fibril degraders: Le mithi isiza ekuhlukaniseni ama-amyloid deposits asevele akhekile. Eziningi zalezi zisesesigabeni socwaningo.
Ungangithumela kwabanye ochwepheshe?
Yebo. Ngenxa yokuthi lesi sifo sithinta izingxenye ezahlukene zomzimba, udokotela wakho angakudlulisela kwabanye ochwepheshe ukuze baphathe izimpawu ezahlukene.
- Udokotela Wenhliziyo: Ukuze uthole isigqi senhliziyo kanye nezimpawu zokuhlaselwa yinhliziyo.
- Udokotela Wesisu: Ngezimo ezifana nesifo sohudo kanye nokuqunjelwa.
- Udokotela Wezifo Zomchamo: Ngezinkinga zomgudu womchamo .
- Udokotela wamehlo: Ngezinkinga zokubona.
- Uchwepheshe wamathambo: Ezimweni ezifana ne-carpal tunnel syndrome.
Udokotela wakho uzokhuluma nawe mayelana nokubikezelwa kwalesi sifo. Lokhu kungaba noma kuphi kusukela eminyakeni emi-3 kuya kwengu-15 ngemva kokutholakala kwalesi sifo. Kodwa khumbula, kuncike ekuguqukeni kwezakhi zofuzo ezithile onazo kanye nezitho ezithinta lesi sifo. Njengoba ukwelashwa okusha kucwaningwa njalo, kunethemba ngekusasa.
Umlayezo Wokuya Nawe Ekhaya
- I-hATTR Amyloidosis akuyona into okufanele uyesabe, iyisifo esingavamile esidluliselwa ngofuzo esingalawulwa.
- Ngesikhathi sokubonana nodokotela wakho, kubaluleke kakhulu ukukhuluma ngomlando wempilo yomndeni wakho .
- Unganqikazi ukutshela udokotela wakho nganoma yiziphi izimpawu ozizwayo, kungakhathaliseki ukuthi zincane kangakanani.
- Namuhla, kunezindlela zokwelapha zesimanje eziphumelela kakhulu zokulawula ukuqhubeka kwalesi sifo.
- Khuluma nodokotela wakho ngokukhululekile nganoma yimiphi imibuzo noma ukwesaba ongase ube nakho. Awuwedwa kulolu hambo.
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