Xa ugqirha wakho ekuxelela wena okanye umntu omthandayo ukuba unesifo seGaucher, ungaziva wothukile kwaye uloyiko. Yinto eqhelekileyo leyo. Kodwa into ebalulekileyo kukuba kukho unyango oluninzi oluhle olufumanekayo namhlanje olunokukunceda uphile ubomi obutofotofo nale meko. Nangona kungekho nyango lwesi sifo, unyango lwangoku lunokukunceda uthintele umonakalo kumalungu akho omzimba kwaye ulawule iimpawu zakho ukuze uphile ubomi obusempilweni. Ngoko ke ungakhathazeki, masithethe ngayo ngokweenkcukacha.
Ezinye iindlela zonyango zilungele abantu abadala kuphela. Ezinye iindlela zonyango zenzelwe ngokukodwa iintlobo ezithile zesifo seGaucher. Kwakhona, ukuba wena okanye umntwana wakho uneempawu ezincinci kakhulu, usenokungadingi naluphi na unyango konke konke. Kwimeko enjalo, unokufuna ukubona ukuba iimpawu zakho ziyaphucuka na uze uqale unyango kuphela xa kuyimfuneko. Konke oku kumiselwa ngugqirha wakho.
Indlela ephambili yonyango: Unyango Lokutshintshwa Kwe-Enzyme (ERT)
Olu lolona nyango luqhelekileyo nolusebenzayo. Abantu abadala kunye nabantwana abanesifo seGaucher sohlobo 1 kunye nohlobo 3 banokulufumana olu nyango.
Ngamafutshane, isifo seGaucher sisifo apho amandla omzimba okuvelisa i-enzyme ethile encitshiswa khona. Ngenxa yoko, amanye amafutha emzimbeni awanakuhlulwahlulwa ngokufanelekileyo kwaye agcinwa kwiindawo ezifana nesibindi, i-spleen, kunye nomongo wamathambo. Unyango Lokutshintshwa Kwe-Enzyme (ERT) lubandakanya ukunika umzimba i-enzyme engekhoyo ngaphandle, njengenaliti.
Olu nyango lufana nokutshintsha isibane esiphukileyo endlwini yethu ngesinye esitsha. Lunceda umzimba usebenze kakuhle kwakhona ngokubonelela ngoko kunqongopheleyo ngaphandle.
Zithini iingenelo zonyango lwe-ERT?
- Ukuvuselela isibindi kunye ne-spleen evuvukileyo: La malungu, akhule kakhulu ngenxa yesi sifo, aphinda abe mancinci kwaye umsebenzi wawo uphucukile.
- Ukunciphisa i-Anemia: Oku kunceda ukulawula i-anemia, ebangela ukudinwa kunye nobuthathaka kubantu abaninzi.
- Ukuqinisa amathambo: Kunciphisa iintlungu zamathambo, kuyawomeleza, kwaye kuyawathintela ukuba angaphuki lula.
Nangona kunjalo, kubalulekile ukukhumbula ukuba i-ERT ayisebenzi kakuhle ekulawuleni iimpawu zengqondo okanye zenkqubo yemithambo-luvo (ezifana nokuxhuzula) ezenzeka kwisifo se-Gaucher sohlobo lwesithathu. Oku kungenxa yokuba eli yeza linamandla alinganiselweyo okudlula lisuka egazini lethu liye engqondweni (umqobo wegazi-ubuchopho).
Kukho iintlobo ezintathu eziphambili zamayeza e-ERT asetyenziswayo ngoku:
- I-Imiglucerase (I-Imiglucerase - iCerezyme)
- I-Taliglucerase alfa (i-Taliglucerase alfa - i-Elyso)
- I-Velaglucerase alfa (VPRIV)
Eli yeza linikwa njengesicombululo setyuwa (iyeza le-IV), lifakwa ngetyhubhu encinci lingene emthanjeni. Ngokwesiqhelo kufuneka uye esibhedlele okanye ekliniki rhoqo emva kweeveki ezimbini ukuze ufumane olu nyango zingadlulanga iiyure ezi-1-2.
Amayeza Omlomo
Ukongeza kunyango lwe-ERT, kukwakho neepilisi zomlomo ezinokuthathwa. Ezi zimiselwe ngokukodwa abantu abadala abanesifo se-Type 1 Gaucher. Ezi pilisi zisebenza ngokunciphisa ukuqokelelwa kwamafutha emzimbeni esithethe ngawo ngaphambili.
| Igama lesiyobisi | Inkcazo kunye nokusetyenziswa |
|---|---|
| I-Eliglustat (Eliglustat - Cerdelga) | Eli liyeza elitsha. Kufuneka lithathwe kabini ngemini. Nangona kunjalo, kwabanye abantu abaphula eli chiza ngokukhawuleza emizimbeni yabo (i-metabolizers ekhawulezayo), lisenokungasebenzi kangako. |
| Miglustat (Miglustat - Zavesca) | Oku kunikwa abantu abadala abanesifo seGaucher esincinci ukuya kwesiphakathi abangakhange baphendule kunyango lwe-ERT. Ikhaphu enye kufuneka ithathwe kathathu ngemini. |
Ezinye iindlela zonyango ezincedisayo
Kukho ezinye iindlela zonyango ezikhoyo zokulawula iingxaki ezahlukeneyo zesifo seGaucher.
Unyango lwamathambo abuthathaka
Ubuthathaka bamathambo kunye nentlungu zixhaphakile kwisifo seGaucher. Udidi lwamayeza abizwa ngokuba yi -bisphosphonates asetyenziswa ukunceda kule meko. La mayeza asebenza ngokuqinisa amathambo. Imizekelo ibandakanya i-alendronate (Fosamax) kunye ne-pamidronate (Aredia). La mayeza afanele abantwana kunye nabantu abadala.
Unyango lweentlungu
Ungasebenzisa amayeza okuthomalalisa iintlungu aqhelekileyo kwizinto ezifana neentlungu zomzimba kunye nentlungu yamalungu.
- Kwiintlungu ezincinci: Amayeza anjenge-acetaminophen (Tylenol) okanye i-ibuprofen (Advil, Motrin).
- Xa uneentlungu eziqatha: Kusenokufuneka usele amayeza okudambisa iintlungu anamandla kwiqela le-opioid , njengoko ugqirha wakho ekuyalele.
Ukongeza, ngamanye amaxesha amayeza okudakumba okanye okuphumla kwemisipha anokunceda ukulawula iintlungu.
Utyando
Nangona esi sifo sinokulawulwa ngamayeza, kwezinye iimeko utyando lunokufuneka.
- Utyando lwe-spleen: Ukuba i-spleen evuvukileyo ayinciphi emva konyango lwe-ERT kwaye iyaqhubeka nokubangela iingxaki, ugqirha wakho unokucebisa ukuba isuswe i-spleen ngotyando.
- Utyando Lokutshintshwa Kwamalungu: Ukuba isifo sonakalise kakhulu amalungu (umz. i-hip joint) kwaye intlungu inzima kangangokuba ukuhamba akunakwenzeka, utyando lunokwenziwa ukuze kutshintshwe elo lungu ngelungu elenziweyo. Oku kunokunciphisa iintlungu kwaye kuvumele ukuhamba ngcono kwakhona.
Ukufakelwa kweBone Marrow
Olu lunyango oluyingozi kakhulu nolungaqhelekanga lwesifo seGaucher. Lubandakanya ukutshintsha iiseli zegazi ezonakeleyo ngeziphilileyo. Nangona kunjalo, akukabikho bungqina bucacileyo bokhuseleko nokusebenza kwayo xa kuthelekiswa nonyango oluqhelekileyo olufana ne-ERT. Ke ngoko, luqwalaselwa kuphela kwiimeko ezikhethekileyo apho kungekho nyango lusebenzayo.
Utofelo-gazi
Oku kunokuba luncedo kubantu abane -anemia egqithisileyo ebangelwa sisifo seGaucher. Ukunikela ngegazi kunokunyusa inani leeseli ezibomvu zegazi, kubuyisele amandla omzimba kunye namandla.
Ukubaluleka kwendlela yokuphila: ukutya kunye nokuzilolonga
Ukongeza ekufumaneni unyango, kubaluleke kakhulu ukugcina indlela yokuphila elungileyo nesempilweni.
- Ukutya okunesondlo: Kubalulekile ukutya ukutya okutyebileyo kwi -calcium kunye ne-vitamin D , ingakumbi ukugcina amathambo eqinile. Faka izinto ezifana nobisi, iyogathi, itshizi, imifuno eluhlaza, kunye neentlanzi ezincinci ekutyeni kwakho.
- Ukuzilolonga: Thetha nogqirha wakho kwaye wenze imithambo efanelekileyo kuwe kwaye enganzima kakhulu kumalungu akho. Izinto ezifana nokuhamba nokudada zilungile.
- Izongezo: Ukuba ugqirha wakho ucinga ukuba awufumani i-vitamin D okanye i-calcium eyaneleyo ekutyeni kwakho, unokucebisa izongezo.
Okokugqibela, izazinzulu kunye noogqirha bahlala bephanda unyango olutsha lwesifo seGaucher. Olu vavanyo lubizwa ngokuba luvavanyo lweklinikhi . Olu vavanyo lukuvumela ukuba uzame unyango olutsha olungekafumaneki ngokubanzi. Thetha nogqirha wakho malunga nokuba ungathabatha inxaxheba na kwenye yezi zilingo.
Umyalezo Wokuya Ekhaya
- Isifo sikaGaucher asisosifo esoyikwayo nesinokulahlwa. Kukho unyango olusebenzayo olufumanekayo namhlanje olunokukunceda ulawule iimpawu zakho kwaye uphile ubomi obuhle.
- Unyango oluphambili lunyango lokutshintshwa kwee-enzyme (ERT). Ukongeza, amayeza aselwayo, amayeza okuqinisa amathambo, kunye neentlungu nazo ziyasetyenziswa.
- Kwezinye iimeko, utyando lusetyenziswa kuphela xa amayeza engakwazi ukulawula imeko.
- Ukongeza ekufumaneni unyango, kubaluleke kakhulu ukutya ukutya okunempilo okutyebileyo kwi-calcium kunye ne-vitamin D kwaye wenze umthambo ofanelekileyo kuwe.
- Eyona nto ibalulekileyo kukuhlala unxibelelana rhoqo nogqirha wakho kwaye ulandele imiyalelo yakhe ngokuchanekileyo. Thetha naye ngokukhululekileyo ngayo nayiphi na imibuzo, uloyiko, okanye amathandabuzo onawo.
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