Masifunde ngeTransthyretin Amyloidosis (ATTR-CM), echaphazela intliziyo yakho buthule.

Ngaba ngamanye amaxesha ukhe uzive ngathi kukho into engaqhelekanga okanye eyahlukileyo ngentliziyo yakho? Isenokungabi yinto enkulu, kodwa inokuba yingxaki ukuba ayifunyaniswanga kakuhle. Namhlanje siza kuthetha ngesifo sentliziyo esinzima kancinci, kodwa kufanelekile ukuba wonke umntu asiqaphele. Yiyo loo nto i-transthyretin amyloidosis, okanye njengoko oogqirha beyibiza njalo, `(ATTR-CM)`.

Yintoni i-transthyretin amyloidosis (ATTR-CM)?

Ngamafutshane, `(ATTR-CM)` yimeko echaphazela intliziyo, enxulumene neproteni emizimbeni yethu. Masiyicacise ngakumbi le nto, akunjalo?

Yintoni i-transthyretin (TTR)?

I-Transthyretin, okanye `(TTR)`, yiproteni ekhethekileyo efumaneka egazini lethu, ikakhulu eyenziwa sisibindi sethu. Isebenza njengenkonzo yokuhambisa imithwalo emzimbeni wethu. Yile protein `(TTR)` ethwala i-vitamin A (ekwaziwa ngokuba yi-retinol) kunye ne-hormone thyroxine, eveliswa yi-thyroid gland, kwiindawo ezahlukeneyo zomzimba, apho zifuneka khona.

Yintoni i-Amyloidosis?

I-Amyloidosis kukuqokelelana kweeproteni ezimile ngendlela engaqhelekanga kwizitho ezahlukeneyo zomzimba wethu. Cinga ngayo njengenqwaba yezinto ezingeyomfuneko endlwini yethu. Xa iiproteni zibekwe ngale ndlela entliziyweni, siyibiza ngokuba yi-cardiac amyloidosis.

Ezi proteni zingaqhelekanga, njengeebhola ezincinci zentambo, zenza izakhiwo ezinemicu ezibizwa ngokuba yi-'fibrils' . Ezi 'fibrils' ziphelela entliziyweni, ngakumbi kwi-ventricle yasekhohlo, igumbi eliphambili elipompa igazi liye emzimbeni wonke. Oku kubangela ukuba intliziyo iqine kancinci kancinci. Endaweni yokuba yibhola yerabha ethambileyo, iba njengebhola eqinileyo, enamatye. Oku kwenza kube nzima ukuba intliziyo ifinyeze kakuhle kwaye ipompe igazi.

Yintoni iCardiomyopathy (CM)?

Xa intliziyo iqina kwaye iqinile, imisipha yentliziyo iyagula. Oku kubizwa ngokuba yi-cardiomyopathy (CM) ngokwezonyango. Ngamafutshane, imisipha yentliziyo iba buthathaka. Oku kubangela ukuba intliziyo ingakwazi ukupompa igazi elaneleyo emzimbeni. Oku kudla ngokukhokelela kwimeko embi ebizwa ngokuba kukusilela kwentliziyo.

Khumbula, ukongeza kwesi simo esibizwa ngokuba yi-`(ATTR-CM)`, kukwakho nohlobo lwe-amyloidosis olubangelwa yenye iproteni ebizwa ngokuba yi-`(light chain)`. Ibizwa ngokuba yi-`(AL) amyloidosis`. Sisifo esahlukileyo kwi-`(ATTR-CM)` esithetha ngayo namhlanje.

Esi simo (ATTR-CM) sikwabizwa ngamagama amaninzi. Umzekelo, ungasiva sibizwa ngokuba yi-cardiac amyloidosis, i-amyloidosis ATTR, okanye i-transthyretin cardiac amyloidosis koogqirha okanye kwenye indawo.

Ziziphi iintlobo eziphambili ze-`(ATTR-CM)`?

Kukho iintlobo ezimbini eziphambili zesi sifo ``(ATTR-CM)```.

1.I-ATTR-CM yoSapho/yelifa:

Olu luhlobo olunye. Kalula nje, ludluliselwa kwizizukulwana ngezizukulwana . Olu hlobo lubangelwa kukutshintsha kwezakhi zofuzo zethu, ukuguqulwa kwezakhi zofuzo. Oku sikubiza ngokuba yi-ATTR-CM yosapho okanye yelifa. Kule meko, iproteni engaqhelekanga inokugcinwa kungekuphela nje entliziyweni, kodwa nakwinkqubo yemithambo-luvo kwaye ngamanye amaxesha kwizintso. Kukho utshintsho lwezakhi zofuzo ezahlukeneyo oluchaphazela oku phakathi kwamaqela eentlanga ezahlukeneyo ehlabathini.

2. Uhlobo lwe-ATTR-CM lwasendle:

Olunye uhlobo yi-wild-type ATTR-CM. Akukho sizathu sithile semfuza esifunyenweyo ngenxa yoku. Kwenzeka ngokuzenzekela, ngaphandle kwesizathu esicacileyo. Olu hlobo lukwachaphazela kakhulu intliziyo kunye nenkqubo yemithambo-luvo.

Ixhaphake kangakanani le `(ATTR-CM)` yesifo?

Inyaniso kukuba, neengcali zonyango azikwazi ukuxela ngokuthe ngqo ukuba bangaphi abantu abanesifo '(ATTR-CM)'. Nangona kunjalo, kukholelwa ukuba esi sifo sisenokuba sixhaphake kakhulu kuluntu kunokuba bekucingwa ngoku . Kwiimeko ezininzi, esi sifo asichongwa ngokufanelekileyo, oko kukuthi, '(asichongwanga ngokwaneleyo)'.

Utshintsho lwemfuza lunokuchaphazela amaqela athile eentlanga ngaphezu kwamanye. Umzekelo, olu tshintsho lwemfuza lubonakala kakhulu kubantu abamnyama eMelika. Nangona kunjalo, into ebalulekileyo kukuba ayinguye wonke umntu onayo le nguqu oza kuba nesifo.

Zithini izizathu ze-`(ATTR-CM)`?

Eyona nto ibangela i-ATTR-CM yosapho sisiphene, okanye utshintsho, kwi-gene eyenza i-TTR yeproteni esithethe ngayo ngaphambili. Kunqabile kakhulu, umntu unokuphuhlisa olu tshintsho lwe-gene okokuqala ngaphandle kokuba nabani na kusapho abe nale meko ngaphambili. Oku kubizwa ngokuba yi-de novo mutation.

Oogqirha abakayazi kakuhle into ebangela i-wild-type ATTR-CM. Nangona kunjalo, ixhaphake kakhulu kumadoda angaphezu kweminyaka engama-65 ubudala. Ke ngoko, kukholelwa ukuba ukwaluphala, kwaye, ukuya kuthi ga kwinqanaba elithile, isini, zinokuba zizinto ezibangela umngcipheko.

Nokuba yintoni na imbangela, ekugqibeleni kwenzeka ukuba imizimba yethu iqale ukuvelisa iiproteni ezingaqhelekanga, ezingaqhelekanga ze-`(TTR)`. Ezi proteni ezingaqhelekanga ziyaqhekeka lula, zidibana, kwaye `zigobeke`. Le yindlela ezigobeka ngayo, zenze amaqhekeza amancinci abizwa ngokuba yi-`amyloid fibrils`. Ezi zihamba emzimbeni wonke ngegazi kwaye zibekwe kwizitho ezahlukeneyo, njengentliziyo kunye nemithambo-luvo. Ekuhambeni kwexesha, ezi zitho ziqala ukonakala.

Zithini iimpawu zesifo `(ATTR-CM)`?

Iimpawu zesi sifo `(ATTR-CM)` zinokwahluka kakhulu kumntu nomntu. Kwakhona, iimpawu ziyahluka ngokuxhomekeke kuhlobo lwesifo.

• Abanye abantu abane-wild-type ATTR-CM basenokungabi nazo naziphi na iimpawu.Ukuba iimpawu ziyavela, zihlala ziqala ukubonakala emva kweminyaka engama-65 ubudala.
• Iimpawu ze-ATTR-CM zentsapho zihlala ziqala ukubonakala emva kweminyaka engama-50 ubudala. Nangona kunjalo, ngamanye amaxesha iimpawu zinokuqala kwangethuba, ngeminyaka yama-20, okanye kamva kakhulu, ngeminyaka yama-80.

Rhoqo, ezi mpawu ze-`(ATTR-CM)` zifana kakhulu neempawu ze-`(Heart Failure)`. Cinga ukuba ubusoloko uziva ezi zinto kutshanje:

• Ukuphefumla kancinci: Ukuziva uphelelwa ngumphefumlo, ingakumbi xa ulele ebhedini, okanye nokuba wenza umthambo omncinci, njengokuhamba umgama omfutshane.
• Ukuziva uzele kwaye uqumbile .
• Ndididekile , ndinengxaki yokucinga kakuhle.
• Ukukhohlela, ukuziva ngathi yinkede (ingakumbi xa ulele phantsi).
• Ukudumba kwemilenze, amaqatha, kunye neenyawo (ukudumba) (ngokungathi zizaliswe ngamanzi).
• I-Arrhythmia yintliziyo engaqhelekanga, ngamanye amaxesha ebizwa ngokuba yintliziyo ekhawulezayo, ingakumbi imeko ebizwa ngokuba yi-atrial fibrillation.
• Ukubetha kwentliziyo kukuziva intliziyo ibetha ngokukhawuleza kakhulu, oko kuthetha ukuba ivakala ngathi intliziyo iyabetha/iyabetha .
• Ukudinwa kukudinwa nokudinwa ngalo lonke ixesha ngaphandle kwesizathu .
• Ukuziva unesizungu, okanye ngathi uza kufa isiqaqa .

Ziziphi iingxaki ezinokubakho ze-`(ATTR-CM)`?

I-Transthyretin amyloidosis (ATTR-CM) inokubangela ukuphazamiseka kwesantya sentliziyo, ikakhulu ukusilela kwentliziyo kunye ne-atrial fibrillation (Afib).

Ukongeza, ukuba ezi depositi ze-amyloid ziqokelelana kwinkqubo yemithambo-luvo, ezi ngxaki zilandelayo zinokwenzeka:

• I-Carpal tunnel syndrome: Le yimeko apho umthambo esihlahleni ucinezelwa khona. Iminwe yezandla zombini idla ngokuba ndindisholo kwaye ibe buhlungu, kwaye ngamanye amaxesha intlungu ikuvusa ebusuku.
• Ukubona amabala amnyama edada phambi kwamehlo (ii-eye floaters).
• I-peripheral neuropathy: Oku kukonakalisa imithambo-luvo emilenzeni. Oku kunokubangela ukungaziva, ukurhawuzelelwa, iintlungu, kwaye mhlawumbi nokulahlekelwa luvakalelo emilenzeni.

Ezi ntsalela ngamanye amaxesha zinokuqokelelana emgogodleni, nto leyo ebangela i-spinal stenosis. Zinokuqokelelwa nakwiithishu ezahlukeneyo zomzimba, nto leyo ekhokelela kwiimeko ezifana nokuqhekeka kwemisipha.

Enye into ebalulekileyo kukuba i-amyloidosis ngamanye amaxesha ihamba nemeko ebizwa ngokuba yi-aortic stenosis. Oku kukuncitshiswa kwevalvu ye-aortic ekhupha igazi kwigumbi eliphambili lentliziyo. Ukuba ugqirha wakho ukufumanise ukuba une-aortic stenosis, ugqirha wakho unokukuvavanya i-amyloidosis.Oku kubaluleke kakhulu ukuba unezinye iimpawu, ezifana nokubetha kwentliziyo okungahambelaniyo kunye nesifo se-carpal tunnel syndrome.

Sifunyaniswa njani isifo `(ATTR-CM)`?

Enyanisweni, ukufumanisa esi sifo sithi "ATTR-CM" ngamanye amaxesha kunokuba nzima kancinci. Kuba, umzekelo, uhlobo oluzuzwa njengelifa lunokubonisa iimpawu ezifana nesifo sentliziyo esibangelwa luxinzelelo lwegazi oluphezulu. Ngenxa yoko, abanye abantu banokufumana "ukuxilongwa okungachanekanga" ekuqaleni.

Kwelinye icala, uhlobo lwe-wild-type alusoloko lubonisa iimpawu ezicacileyo. Ke ngoko, esi sifo sisenokungafunyaniswa de kubekho ingxaki enkulu efana nokusilela kwentliziyo.

Kukho iimvavanyo eziphambili ezininzi ezisetyenziswa ngoogqirha ukufumanisa isifo:

• Uvavanyo lwe-ECG (i-Electrocardiogram): Olu lujonga ukusebenza kombane kwentliziyo.
• Uvavanyo lokujonga intliziyo: I-Echocardiogram (oku kujonga imilo kunye nomsebenzi wentliziyo), i-MRI scan, i-PET scan, njl.njl.
• Ukuskena amathambo / I-bone scintigraphy: Oku kunokujonga ukuba kukho ii-amyloid emzimbeni.
• Uvavanyo lwentliziyo: Oku kuquka ukuthatha iqhekeza elincinci kakhulu lesicwili entliziyweni uze ulihlolisise phantsi kwe-microscope ukuze ubone ukuba kukho na ii-amyloid deposits.
• Uvavanyo lwegazi: Olu vavanyo lunokubona utshintsho okanye utshintsho kwi-gene ye-`(TTR)`.

Ziziphi iindlela zonyango ze-`(ATTR-CM)`?

Lo ngumbuzo obaluleke kakhulu kubantu abaninzi. Ukuba ndithetha inyani, akukho ndlela ipheleleyo yokuphelisa i-ATTR-CM okwangoku. Kwakhona, akukho ndlela iqinisekileyo yokususa ii-amyloid fibers esele zifakwe emzimbeni.

Kodwa, ungoyiki! Ngoku kukho amayeza anokunciphisa ukwakheka kwezi proteni zintsha ziyingozi aze acothise ukuqhubela phambili kwesi sifo. Oku kukunika isiqabu esikhulu.

Ukongeza, unyango olwahlukileyo lunikezelwa ukulawula iimpawu ezibangelwa ziziphumo ebezingalindelekanga zesi sifo, ezinje ngokusilela kwentliziyo, ukungasebenzi kakuhle kwentliziyo, kunye ne-neuropathy.

• Kukho amayeza athile anikwa i-ATTR-CM yosapho. La asebenza ngokubophelela kwiproteni ye-TTR, ayizinzise, ​​kwaye athintele ukuba iproteni ingasongi kakuhle. Imizekelo ibandakanya iTafamidis (Vyndaqel®, Vyndamax®) kunye neDiflunisal (Dolobid®). I-Diflunisal ngokwenene yi-NSAID (iyeza elichasene nokuvuvukala elingeyo-steroidal). Ngamanye amaxesha oogqirha bayisebenzisa 'ngaphandle kweleyibhile', oko kuthetha ukuba ayivunywanga ngokukodwa kwesi sifo, kodwa ngenxa yokuba ivunyiwe kwezinye iimeko kwaye inokuba luncedo kwesi sifo.
• Kukho amanye amayeza, afana ne-Inotersen (Tegsedi®) kunye ne-Patisiran (Onpattro®), asebenza ngokunciphisa ukuveliswa kwezi protein ze-amyloid ezingalunganga kwisibindi.

Kunqabile kakhulu, kwiimeko zokwanda kwesi sifo, oku kulandelayo kunokufuneka:

• Ukufakelwa isibindi.
• Ukufakelwa izintso.
• Isixhobo sokuncedisa i-ventricular yasekhohlo (LVAD) (umatshini omncinci onceda ukupompa igazi entliziyweni) silungile, okanye njengesigqibo sokugqibela, ukufakelwa intliziyo.

Ngaba isifo `(ATTR-CM)` singathintelwa?

Ukuba une-gene mutation `(TTR)` ebangela i-familial `(Familial) ATTR-CM`, abantwana bakho banethuba elingama-50% lokufumana i-gene mutation. Oko kuthetha ukuba, ayingomntwana wonke, kodwa lithuba elinye kwababini lokuba nomntwana. Nangona kunjalo, into ebalulekileyo ekufuneka uyikhumbule kukuba ayingomntwana wonke ofumana i-gene mutation eya kukhula `(ATTR-CM)`.

Ukuba une-genetic risk factor efana nale, licebo elihle ukuthetha nomcebisi we-genetic xa uceba ukuba nabantwana. Emva koko ungafunda ngeendlela ezifana nokuxilongwa kwe-genetic ngaphambi kokumkelwa (PGD). Kule ndlela, ii-embryos ezenziwe ngokuchumisa i-in vitro (IVF) zivavanywa ukuba zikhona ii-gene ezine-perfect ngaphambi kokuba zifakwe kwisibeleko. Ii-embryos eziphilileyo ezingenazo iziphene zinokukhethwa kwaye zifakwe kwisibeleko ukuzama ukunciphisa umngcipheko wokuba umntwana afumane le meko ye-genetic.

Zithini iithemba zekamva lezigulane ze-`(ATTR-CM)`?

I-Transthyretin amyloidosis (ATTR-CM) sisifo esiqhubekayo esinokukhokelela kwiingxaki ezinkulu ekugqibeleni. Kodwa ungakhathazeki! Ngamayeza amatsha afana neTafamidis, kunye nonyango olutsha olukwizilingo zeklinikhi okwangoku, ixesha lokuphila kunye nomgangatho wobomi uyaphucuka. Olunye uphando lubonise ukuba izigulane ezifumene iyeza leTafamidis kangangeenyanga ezingama-30 zinyuke nge-13% ekusindeni.

Eyona nto ibalulekileyo kukubona ugqirha wentliziyo rhoqo kwaye ulandele iingcebiso zakhe ukuqinisekisa ukuba ufumana amayeza afanelekileyo entliziyo yakho.

Ufanele uye nini kugqirha?

Ukuba unenye okanye ngaphezulu kwezi mpawu zilandelayo, kubaluleke kakhulu ukubona ugqirha ngokukhawuleza kwaye ufumane ingcebiso ngaphandle kokuzityeshela:

• Ukudideka ngequbuliso okanye iingxaki zenkumbulo.
• Ukubona izinto ezinje ngamabala amnyama edada phambi kwamehlo kubizwa ngokuba yi-"Eye floaters".
• Ukubetha kwentliziyo okungaqhelekanga okanye ukuziva ukubetha kwentliziyo okukhawulezayo (ukubetha kwentliziyo okukhawulezileyo).
• Ubunzima bokuphefumla.
• Akukho sizathu sicacileyoUkudumba kunye nokutyeba.

Yeyiphi imibuzo omele uyibuze ugqirha wakho?

Ukuba ufunyaniswe une-(ATTR-CM), okanye ukrokrela ukuba unayo, kungcono ukubuza ugqirha wakho imibuzo efana nale:

• Luhlobo luni lwe-Transthyretin Amyloidosis endinalo? (Lufuzo okanye lufuzo?)
• Yintoni ebangela le meko kum?
• Ingaba ndinotshintsho, okanye isiphene, kwi-gene ye-`(TTR)`?
• Zeziphi iindlela zonyango ondicebisa zona?
• Zithini iziphumo ebezingalindelekanga zala mayeza?
• Ngaba ndiza kuyidinga into efana nokufakelwa amalungu omzimba kwixesha elizayo?
• Zeziphi iimpawu zeengxaki ekufuneka ndizixhalabele ngakumbi?

Ezinye zezona zinto zibalulekileyo ekufuneka sizikhumbule kweli bali zezi:

I-Transthyretin amyloidosis, okanye ``ATTR-CM```, yimeko apho iproteni ``Transthyretin`` igoba ize izibeke entliziyweni njenge ``fibrils`` ezincinci. Oku kunokubangela ukuba amagumbi entliziyo abe buthathaka kwaye aqine, nto leyo ekhokelela kwimeko ebizwa ngokuba yi ``Cardiomyopathy``.

Abanye abantu banokuba nale meko iqhubeka kwiintsapho (Familial ATTR-CM). Oku kuthetha ukuba kukho impembelelo yemfuza. Kwabanye, le meko inokuvela xa abantu bekhula ngaphandle kwesizathu esicacileyo (Wild-type ATTR-CM).

Nangona kungekho nyango, kukho amayeza asebenzayo kunye nonyango olunokunceda ukulawula iiproteni ezintsha, ukunciphisa iimpawu, kunye nokuthintela izifo ezinzulu ezifana nokuhlaselwa yintliziyo. Amaxesha amaninzi, ukuba isifo siyaqhubeka, into efana nokufakelwa amalungu omzimba inokufuneka.

Eyona nto ibalulekileyo kukuba ukuba uneempawu ezingaqhelekanga okanye ukungakhululeki okunxulumene nentliziyo yakho, ungayityesheli kuba 'ivele yenzeka' kwaye ufune ingcebiso kagqirha ngoko nangoko. Kuba, njengaso nasiphi na isifo, okukhona oku kufumaneka ngokukhawuleza, kokukhona amathuba okuqala unyango, ukunciphisa iingxaki, nokuphila ubomi obuqhelekileyo aba maninzi.

I- Transthyretin amyloidosis, i-ATTR-CM, isifo sentliziyo, i-amyloidosis, ukusilela kwentliziyo, ukugcinwa kweproteni, izifo ezizuzwe njengelifa