Kuqhelekile ukuziva usoyika kwaye wothukile xa ugqirha ekuxelela ukuba umntu kusapho lwakho, ingakumbi umntwana omncinci, unesifo iPompe. Sisifo esingaqhelekanga, esibangelwa lufuzo, ngoko ke kuyinto eqhelekileyo ukuba nexhala. Kodwa mandikuxelele, ungakhathazeki. Nangona okwangoku kungekho nyango lwesi sifo, kukho unyango oluninzi olusebenzayo olunokunceda izigulane ziphile ixesha elide kwaye zibe neengxaki ezimbalwa.
Unyango oluphambili lwesifo sikaPompe yi-ERT (Enzyme Replacement Therapy).
Ngamafutshane, isifo sikaPompe sibangelwa kukunqongophala kwe-enzyme ebalulekileyo kwiiseli zemisipha emizimbeni yethu. Xa le enzyme ingekho, uhlobo lweswekile olubizwa ngokuba yi-glycogen luyaqokelelana ngaphakathi kweeseli, lonakalise izihlunu. Cinga ngayo ngathi kukho abasebenzi abancinci abasebenza emizimbeni yethu, kwaye sizibiza ngokuba zii-enzyme. Kwisifo sikaPompe, lo msebenzi akasebenzi kakuhle.
Ngoko ke, i-Enzyme Replacement Therapy (ERT) kulapho sinikezela khona i-enzyme engekhoyo, okanye umsebenzi, ovela ngaphandle komzimba. Ngenxa yesi sizathu, iyeza eliqulethe i-enzyme yokwenziwa ebizwa ngokuba yi-'alglucosidase alfa' linikwa umzimba ngomthambo (IV infusion). Olu nyango lolona nyango luvunyiweyo okwangoku kwisifo sePompe.
Olu nyango lwe-ERT lunyuse kakhulu ixesha lokuphila kwezigulane zasePompe, ingakumbi iintsana. Ngaphambili, bekungaqhelekanga ukuba umntwana onesi sifo aphile ngaphaya konyaka.
Ngaphandle konyango lwe-ERT, iintsana ezinesifo sePompe ziyaziqinisa kancinci kancinci izihlunu zentliziyo yazo, zenze buthathaka ezinye izihlunu emzimbeni wazo, zize zife kunyaka wokuqala wobomi bazo. Ziyaphulukana nezihlunu ezifunekayo ukuze ziphefumle. Emva kokuba unyango lwe-ERT luqalile, le meko yatshintsha ngokupheleleyo. Iintsana ezafumana unyango lwe-ERT okokuqala ngoku zikwiminyaka yazo yama-20.
Kutheni kubaluleke kangaka ukuqala unyango kwangethuba?
Le yeyona nto ibalulekileyo. Unyango lwe-ERT lunokuthintela esi sifo ukuba singabi mandundu, kodwa alunakuyibuyisela umva umonakalo osele wenziwe kwimisipha. Oku kuthetha ukuba ukuba unyango lulibaziseka, unokulahlekelwa ngamandla okuphefumla okanye okuhamba.
Oogqirha bazama ukuqalisa unyango lwe-ERT kwiintsuku zokuqala zobomi , ingakumbi kwiintsana, emva kokufumanisa imeko. Nokuba ukulibaziseka okuncinci kunokuthintela umntwana ukuba ahambe ngokusisigxina.
Kubantu abanesifo sePompe esiqala emva kwexesha, ugqirha uya kujonga rhoqo aze ajonge iimpawu ukuze amisele ixesha elifanelekileyo lokuqala i-ERT.
Olu asilohambo lomntu wedwa - inkxaso evela kwiqela leengcali
Nangona unyango lwe-ERT lunokusindisa ubomi, alwanelanga. Ukuze umntu onesifo sePompe afumane ubomi obusemgangathweni ophezulu, kufuneka iqela leengcali ezahlukeneyo. Ingcali yemfuza yeklinikhi idla ngokuba ngumntu ophambili ophetheyo ekulawuleni unyango.
Jonga itheyibhile engezantsi ukuze ubone iintlobo zeengcali ezinokuthi zifuneke koku kunye nohlobo lwenkxaso eziza kuyinika.
| Ugqirha/ingcali yokunyanga | Luluphi uncedo abalufumanayo? |
|---|---|
| Ingcali yentliziyo | Imiphumo entliziyweni iyajongwa kwaye unyango olufunekayo luyachazwa. |
| Ingcali yeMiphunga | Baza kujonga ubunzima bokuphefumla baze banike ii-ventilators ukuba kuyimfuneko. |
| Ingcali yezifo zesisu | Inyanga iingxaki zokuginya kunye nenkqubo yokugaya ukutya. |
| Ingcali yesondlo | Nika isondlo esifunekayo ukuze ikhule kakuhle, kwaye ukuba kuyimfuneko, kucetyiswa ukutya okukhethekileyo okanye ukondla ngetyhubhu yokondla. |
| Ingcali yoNyango lomzimba | Kunikezelwa umthambo kunye nonyango ukuze kuqiniswe izihlunu kwaye kuncitshiswe ubuthathaka. |
| Ingcali yoNyango loMsebenzi | Ukubanceda ukuba benze imisebenzi yemihla ngemihla (efana nokunxiba, ukutya, njl.njl.) bebodwa. Ukuba kuyimfuneko, bafundiswa ukusebenzisa izixhobo zokuncedisa ezifana neenduku. |
| Ingcali yoNyango lweNtetho | Inceda ukoyisa ubunzima bokuthetha obubangelwa bubuthathaka bemisipha yobuso neyolwimi. |
Ezinye iindlela zonyango ngaphandle kwe-ERT
Amayeza achaphazela inkqubo yomzimba yokuzikhusela
Ezinye imizimba yeentsana ziyayiqonda le nyango ye-enzyme elawulwa ngaphandle (i-ERT) 'njengeyangaphandle' kwaye ziqala ukwenza ii-antibodies ezichasene nayo. Oku kubizwa ngokuba yimeko 'engeyiyo ye-CRIM'. Ukuba oku kuyenzeka, unyango lwe-ERT aluyi kusebenza kakuhle.
Ukuthintela oku, oogqirha baqala unyango lokuvuselela ukunyamezelwa komzimba (i-ITI) . Kule meko, kunye nonyango lwe-ERT, kunikwa amayeza aliqela alawula inkqubo yomzimba yokuzikhusela.
- I-Rituximab
- I-Methotrexate
- I-immunoglobulin efakwa kwimithambo yegazi (IVIG)
Oko kwenziwa ngala mayeza kukukhohlisa inkqubo yomzimba yokuzikhusela ukuba icinge ukuba i-ERT yinto engowomzimba. Emva koko umzimba awuyi kulwa ne-ERT.
Unyango lomzimba kunye nonyango lomsebenzi
Ngenxa yokuba ubuthathaka bemisipha buphawu oluphambili lwesifo sikaPompe, unyango lomzimba lubalulekile. Lunokunceda ukuqinisa izihlunu nokugcina ukusebenza komzimba. Unyango lomsebenzi lunokunceda nokuphuhlisa izakhono ezifunekayo ukuze kwenziwe imisebenzi yemihla ngemihla ngokuzimela.
Unyango lwentetho kunye nesondlo
Ngenxa yokuba izihlunu ezifunekayo ukuhlafuna nokuginya ukutya zinokuba buthathaka, ingcali yokuthetha inganceda ngokuzilolonga ngokuginya. Kwakhona, ngamanye amaxesha ityhubhu yokondla inokufuneka ukuze umntwana afumane isondlo esifunekayo. Ingcali yesondlo inganika ulwalathiso olufunekayo koku.
Indima yakho nayo ibaluleke kakhulu.
Xa uphila nesifo sikaPompe, igalelo lakho njengomguli okanye umzali libaluleke kakhulu.
"Eyona nto ibalulekileyo endayenzayo kukufunda ngesifo sikaPompe. Sandinika ukuzithemba okukhulu kunye nentuthuzelo yokuphila naso yonke imihla," utshilo uRyan Colburn, onesifo.
Ngoko ke, kufuneka usebenzisane nogqirha wakho ukuze uqonde iimfuno zakho kwaye ukhokele ekufumaneni unyango olungcono. Ungaze woyike ukubuza ugqirha wakho nayiphi na imibuzo onayo malunga nesi sifo okanye unyango.
Umyalezo Wokuya Ekhaya
- Nangona isifo sikaPompe singenakunyangwa ngokupheleleyo, unyango lwanamhlanje lunokunceda izigulana ziphile ixesha elide kwaye ziphile ubomi obungcono.
- Unyango oluphambili lunyango lokutshintshwa kwee-enzyme (ERT). Olu lunyango olusindisa ubomi.
- Kubaluleke kakhulu ukuqala unyango ngokukhawuleza, kuba umonakalo wezihlunu awunakuguqulwa.
- Ukongeza kwi-ERT, inkxaso evela kwiingcali ezahlukeneyo ezifana nonyango lomzimba, isondlo, kunye nonyango lokuthetha ibalulekile.
- Njengomguli okanye umzali, unokufumana iziphumo ezilungileyo ngokuba nolwazi olupheleleyo ngesi sifo kunye nokusebenzisana ngokusondeleyo nogqirha wakho.
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