Kuqhelekile ukuziva usoyika, udidekile, kwaye unemibuzo emininzi xa ufumanisa ukuba unesifo esingaqhelekanga esibizwa ngokuba yi- 'hATTR amyloidosis '. Musa ukoyika, nokuba igama livakala linzima kancinci. Kweli nqaku, siza kuzama ukukuchazela ngendlela elula. Ingakumbi ukuba le yeyokuqala ubona ugqirha ngale meko, siza kuthetha ngendlela yokuyilungiselela ngcono.
Ngamafutshane, yintoni i-hATTR Amyloidosis?
Ngamafutshane, sisifo esizuzwe njengelifa esibangelwa kukutshintsha okanye ukuguqulwa kwejini ebizwa ngokuba yi-TTR emzimbeni wethu. Olu tshintsho lwejini lubangela ukuba kubekho iproteni engaqhelekanga ebizwa ngokuba yi-amyloid emzimbeni wethu.
Cinga nje ngomsele ovalekileyo, ezi protein ze-amyloid ziqala ukuqokelelana kancinci kancinci kwizitho ezibalulekileyo ezifana nentliziyo yethu, izintso, inkqubo yemithambo-luvo, kunye nenkqubo yokugaya ukutya. Xa ziqokelelana, ezo zitho azikwazi ukwenza imisebenzi yazo eqhelekileyo ngokufanelekileyo. Kulapho ke iimpawu ziqala ukubonakala khona.
Ulungiselela njani ngaphambi kokuba uye kugqirha?
Kubaluleke kakhulu ukuba ube nokulungiselela okuncinci ngaphambi kokuba ubonane nogqirha wakho wokuqala. Ziqaphele ezi zinto.
1. Yazi imbali yempilo yosapho lwakho ngokuchanekileyo
Le yeyona nto ibalulekileyo. I-hATTR Amyloidosis sisifo esidluliselwa kwilifa. Kwizonyango, siyibiza ngokuba yi-'autosomal dominant'. Oku kuthetha ukuba ukuba omnye wabazali bakho une-gene mutation enxulumene nesi sifo, unethuba lama-50% lokusifumana njengelifa.
Ngoko ke, ukuba umama wakho, utata, abantakwenu, okanye abantwana bakho banale sifo, bubulumko ukuthetha nogqirha wakho malunga novavanyo lwemfuza, nokuba awunazo iimpawu.
2. Thatha zonke iingxelo zovavanyo onazo.
Ukuba sele wenze uvavanyo lwemfuza, njengovavanyo lwegazi okanye uvavanyo lwamathe, olukhangela i-TTR gene, qiniseka ukuba uzisa zonke ezo ngxelo. Kukho iinguqu zemfuza ze -TTR ezingaphezu kwe-120. Ezinye iinguqu zemfuza zixhaphake kakhulu kumaqela athile eentlanga.
| Uhlobo lweGene lweTTR | Amaqela eentlanga aqhelekileyo |
|---|---|
| I-ATTR V30M | Abantu abanemvelaphi yesiPhuthukezi, isiSpanish, isiFrentshi, isiSwedish okanye isiJapan. |
| I-ATTR V122I | Ifumaneka malunga ne-4% yabantu abamnyama baseMelika. |
| I-ATTR T60A | Kuqhelekile phakathi kwabantu e-United Kingdom nase-Ireland. |
Kubalulekile: Nokuba uvavanyo lwakho lwemfuza luqinisekisa ukuba une-TTR gene mutation, akuthethi ukuba ngokuqinisekileyo uza kuba ne-hATTR. Ugqirha wakho uza kwenza ezinye iimvavanyo ezininzi ukuqinisekisa ukuxilongwa.
Zeziphi iimvavanyo ugqirha anokuziyalela?
Ukuba ukrokrela ukuba unesi sifo okanye sele ufunyenwe, ugqirha wakho uza kuqala akuhlole kakuhle (uvavanyo lomzimba). Ukongeza, uvavanyo olulandelayo lunokuyalelwa ukuqinisekisa isifo kunye nokujonga inkqubela yaso:
- I-Biopsy : Olu lolona vavanyo lubalulekileyo lokuqinisekisa isifo. Oku kudla ngokubandakanya ukuthatha iqhekeza elincinci kakhulu lesicwili esiswini sakho okanye kwenye indawo uze ulihlolisise phantsi kwe-microscope ukuze ubone ukuba kukho na i-amyloid deposits.
- Uvavanyo lwegazi nomchamo: Olu vavanyo lukhangela iiproteni ezithile egazini okanye emchameni ezinokubonisa esi sifo.
- I-Scintography: Olu luvavanyo olukhethekileyo lokujonga ukuba kukho ii-amyloid ezifakwe entliziyweni.
- Ukujonga ukusebenza kwentliziyo : Nje ukuba isifo sifunyenwe, kunokwenziwa iiskeni ezifana ne -echocardiogram okanye i-MRI yentliziyo ukuze kubonwe ukuba monakalo mkhulu kangakanani entliziyweni.
- Uvavanyo lokuqhuba imithambo-luvo: Olu vavanyo lunceda ekuqinisekiseni ukuba kukho umonakalo kwimithambo-luvo.
Ugqirha ubuza ngeempawu zakho!
Ugqirha uza kukubuza ngokuqinisekileyo athi, "Uziva njani?" Kubaluleke kakhulu ukumxelela ngazo naziphi na iimpawu onokuba nazo, nokuba zezona zincinci. Oku kungenxa yokuba esi sifo sinokuchaphazela amalungu amaninzi omzimba. Ukuba unezinye zezi mpawu zilandelayo, xelela ugqirha wakho ngazo.
| Inkqubo echaphazelekayo | Iimpawu ezinokuvakala |
|---|---|
| Umonakalo wemithambo-luvo | Ukuba ndindisholo, ukurhawuzelela, iintlungu, ukungabi namvakalelo yobushushu/ukubanda, ukungabi nalawulo lomzimba, ubuthathaka, kunye nesifo se-carpal tunnel syndrome. |
| Umonakalo wentliziyo | Iimpawu zokusilela kwentliziyo ezifana nokudinwa, ukudinwa rhoqo, ukudumba kwemilenze, kunye nesiyezi. |
| Ukonakala kwenkqubo ye-autonomic nervous (inkqubo elawula okwenzekayo ngaphandle kolawulo lwethu) | Usulelo oluqhelekileyo lwendlela yomchamo, utshintsho ekubileni, isiyezi xa umile, ukungasebenzi kakuhle ngokwesondo, isicaphucaphu, ukuhlanza, isisu esibuhlungu, urhudo, okanye ukuqhina. |
| Ezinye iimpawu | Iimpawu ezinje ngokubona okufipheleyo, intloko ebuhlungu, ukulahlekelwa yinkumbulo, ukuxhuzula, okanye isifo sohlangothi. |
Zithini iindlela zonyango zoku?
Kwiminyaka emininzi eyadlulayo, unyango olukuphela kwalo lwalukukufakelwa isibindi . Ngethamsanqa, ngoku kukho amayeza amaninzi anamhlanje anokulawula izinga lokuqhubela phambili kwesi sifo. Ugqirha wakho uza kukhetha unyango olusekelwe kwizinto ezintathu:
1. Iimpawu zakho
2. Isitho esichaphazelekayo
3. Inqanaba lesi sifo
Isifo se-hATTR sahlulwe sahlulwe sazizigaba ezine eziphambili.
- Inqanaba 0:Kukho utshintsho lwe-TTR gene, kodwa akukho zimpawu.
- Inqanaba lokuQala: Ungahamba ngendlela eqhelekileyo, kodwa usenokuba neempawu ezincinci ze-neuropathy, ezifana nokungaziva mnandi kunye nentlungu emilenzeni nasezinyaweni zakho.
- Inqanaba lesiBini: Kufuneka uncedo ukuze uhambe. Iimpawu ze-neurological nazo zinzima kakhulu ezingalweni, emilenzeni, nasesinqeni.
- Inqanaba lesi-3: Iimpawu zinzima kangangokuba zihlala kwisitulo esinamavili okanye ebhedini.
Kukho iindlela ezininzi zonyango:
- Izithulisi ze-TTR gene: La mayeza asebenza ngokunciphisa imveliso yeproteni ye-TTR enengxaki. Oku kunciphisa ukubekwa kwe-amyloid. Imizekelo: `Patisiran (Onpattro)`, `Inotersen (Tegsedi)`, `Vutrisiran (Amvuttra)`.
- Iziqinisi ze-TTR: Ezi zisebenza ngokuthintela iproteni ye-TTR ekugobekeni gwenxa zenze iidiphozithi ze-amyloid. Imizekelo: `Tafamidis (Vyndamax, Vyndaqel)`.
- I-Amyloid fibril degraders: La mayeza anceda ekuqhekezeni iidipozithi ze-amyloid esele zenziwe. Uninzi lwazo lusakwisigaba sophando.
Ungandithumela kwezinye iingcali?
Ewe. Ngenxa yokuba esi sifo sichaphazela amalungu ahlukeneyo omzimba, ugqirha wakho unokukuthumela kwezinye iingcali ukuze zinyange iimpawu ezahlukeneyo.
- Ingcali yentliziyo: Ngesingqisho sentliziyo kunye neempawu zokuhlaselwa sisifo sentliziyo.
- Ingcali yeGastroenterologist: Kwiimeko ezinje ngorhudo kunye nokuqhina.
- Ingcali ye-Urology: Ngeengxaki zomchamo .
- Ugqirha wamehlo: Ngeengxaki zokubona.
- Ingcali yamathambo: Kwiimeko ezifana ne-carpal tunnel syndrome.
Ugqirha wakho uza kuthetha nawe malunga noqikelelo lwesifo. Oku kungathatha iminyaka emi-3 ukuya kweli-15 emva kokufunyaniswa kwaso. Kodwa khumbula, kuxhomekeke kutshintsho oluthile lwezakhi zofuzo onalo kunye namalungu omzimba oluchaphazelayo. Njengoko unyango olutsha lusoloko luphandwa, kukho ithemba ngekamva.
Umyalezo Wokuya Ekhaya
- I-hATTR Amyloidosis ayisiyonto yokoyika, sisifo esingaqhelekanga esidluliselwa kwilifa esinokulawulwa.
- Ngexesha lokubonana nogqirha wakho, kubaluleke kakhulu ukuthetha ngembali yempilo yosapho lwakho .
- Musa ukuthandabuza ukuxelela ugqirha wakho ngazo naziphi na iimpawu onazo, nokuba zincinci kangakanani na.
- Namhlanje, kukho unyango lwanamhlanje olusebenzayo kakhulu lokulawula ukuqhubela phambili kwesi sifo.
- Thetha ngokukhululekileyo nogqirha wakho ngayo nayiphi na imibuzo okanye uloyiko onalo. Awuwedwa kolu hambo.
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