Ngaba wakha weva ngeGaucher Disease? Mhlawumbi akunjalo. Kuba sisifo esingaqhelekanga, asisisifo esiqhelekileyo kwilizwe lethu. Kodwa ekubeni sisifo semfuza esidluliselwa kwizizukulwana ngezizukulwana, kubaluleke kakhulu ukuba siqaphele. Esi sifo sinokubangela iimpawu ezahlukeneyo, ukusuka kumathambo abuthathaka ukuya ekubeni luhlaza okwesibhakabhaka nokuba kukho umkrwelo omncinci.
Ngamafutshane, yintoni isifo seGaucher?
Kulungile, masiyibeke ngolu hlobo. Kukho i-enzyme ekhethekileyo emzimbeni wethu enceda ekuqhekezeni nasekususeni iintlobo ezithile zamafutha. Emzimbeni womntu onesifo seGaucher, le enzyme ayisebenzi kakuhle. Emva koko kwenzeka ukuba ezo ntlobo zamafutha zibekwe kwiindawo ezahlukeneyo zomzimba, ingakumbi kwisibindi, i-spleen, kunye nomongo wethambo . Xa amafutha eqokelelana ngale ndlela, kuvela iingxaki ezahlukeneyo zempilo.
Okwangoku akukho nyango lwesi sifo, kodwa kuxhomekeke kuhlobo lwesifo seGaucher onaso, kukho unyango oluhle kakhulu lokulawula iimpawu.
Kukho iintlobo ezintathu eziphambili zesifo seGaucher:
1. Uhlobo 1: Olu lolona hlobo luqhelekileyo. Aluyichaphazeli inkqubo yemithambo-luvo. Iimpawu zinokuba buthathaka kakhulu kwabanye abantu, kodwa zinokuba nzima ngakumbi kwabanye. Ngamanye amaxesha kusenokungabikho zimpawu kwaphela. Kukho unyango olufanelekileyo kolu hlobo.
2. Uhlobo 2 kunye nohlobo 3: Zombini ezi ntlobo zinzima kakhulu kunohlobo 1 kuba zichaphazela inkqubo yemithambo-luvo ephakathi, eyingqondo kunye nomqolo. Iintsana ezinohlobo 2 azihlali zingaphezulu kweminyaka emi-2. Uhlobo 3 nalo luyayonakalisa ingqondo, kodwa iimpawu zibonakala kamva ebuntwaneni.
Yintoni ebangela isifo seGaucher?
Esi asisosifo esinokudluliselwa komnye umntu njengomkhuhlane. Esi sisifo esidluliselwa kwizakhi zofuzo ngokupheleleyo esidluliselwa kwizizukulwana ngezizukulwana. Sibangelwa sisiphene kwizakhi zofuzo ezibizwa ngokuba yiGBA.
Khawucinge nje, umntwana uza kufumana esi sifo kuphela ukuba uzuze esi sifuzo se-GBA esinesiphene kumama nakutata wakhe. Nokuba umntu akanaso esi sifo, usenokuba naso esi sifuzo sinesiphene emzimbeni wakhe (abe ngumthwali) aze asidlulisele ebantwaneni bakhe.
Esi sifo sixhaphake kakhulu kubantu bomnombo wamaJuda (amaJuda aseAshkenazi) eMpuma naseMbindini Yurophu.
Zithini iimpawu zesi sifo?
Iimpawu zingahluka kakhulu kumntu nomntu. Ziyahluka ngokuxhomekeke kuhlobo lwesifo. Makhe sijonge iimpawu ezinxulumene nohlobo ngalunye.
| Uhlobo lweSifo | Iimpawu Eziqhelekileyo |
|---|---|
| Uhlobo 1 |
|
| Uhlobo 2 (Kwiintsana eziphakathi kweenyanga ezi-3-6) | |
| Uhlobo 3 (Iqala ebuntwaneni) | |
| I-Cardiovascular Gaucher (Uhlobo 3c) (Uhlobo olungaqhelekanga) |
Indlela yokuxilonga esi sifo?
Xa usiya kugqirha oneempawu ezinjalo, unokukubuza imibuzo efana nale:
- Uqale nini ukuqaphela iimpawu?
- Imvelaphi yentsapho yakho injani?
- Ngaba kukho nabani na kwizizukulwana zangaphambili zosapho owakha waba neengxaki zempilo ezinje?
- Ngaba kukho izalamane okanye iintsapho zakho eziye zafa nabantwana abangaphantsi kweminyaka emi-2?
Ukuba ugqirha wakho ukrokrela ukuba unesifo seGaucher, angakuqinisekisa oko ngovavanyo lwegazi okanye uvavanyo lwamathe . Kuya kufuneka benze uvavanyo rhoqo ukuze bajonge inkqubela phambili yesifo.
Ukongeza, i-MRI scan inokwenziwa ukujonga ukudumba kwesibindi okanye i-spleen, kwaye uvavanyo loxinano lwamathambo lunokwenziwa ukujonga uxinano lwamathambo.
Ziziphi iindlela zonyango lwesifo seGaucher?
Iindlela zonyango zixhomekeke kuhlobo lwesifo kunye nobukhali beempawu. Ukuba iimpawu zincinci kakhulu, akukho nyango lunokufuneka.
Iindlela eziphambili zonyango
- Unyango Lokutshintshwa Kwe-Enzyme (ERT): Olu lolona nyango luphambili kwabanye abantu abanesifo seswekile sohlobo 1 nohlobo 3. Oku kubandakanya ukunika umzimba i-enzyme enganelanga. Eli yeza linikwa ngemithambo yegazi (IV) malunga neveki ezimbini. Linceda ekunciphiseni i-anemia, liqinise amathambo, kwaye liphilise i-spleen enkulu kunye nesibindi. Nangona kunjalo, olu nyango alusebenzi kakuhle kwiingxaki zenkqubo yemithambo-luvo echaphazela ingqondo. `Imiglucerase (Cerezyme)` kunye ne`Velaglucerase alfa (VPRIV)` ngamayeza olu hlobo.
- Unyango Lokunciphisa I-Substrate (SRT): Ezi ziipilisi ezilawula ukuveliswa kwamafutha aqokelelana emzimbeni kwisifo seGaucher. I-Eliglustat (Cerdelga) kunye neMiglustat (Zavesca) zezo ziyobisi. Zinikwa abantu abadala abanesifo sohlobo 1 abangafanelekanga kunyango lwe-ERT.
Okubaluleke kakhulu, akukho nyango lunokuthi luthintele umonakalo wengqondo obangelwa sisifo seswekile sohlobo lwesithathu, kodwa abaphandi bayaqhubeka nokusebenza kulo.
Ezinye iindlela zonyango ezixhasayo
- Utofelo-gazi lwe-anemia
- Amayeza okuqinisa amathambo nokunciphisa iintlungu
- Utyando lokutshintshwa kwamalungu ukuphucula ukuhambahamba
- Utyando lokususa ipleyini ekhulisiweyo
- Amayeza okulawula iintlungu
- Ukuthatha izondlo ezongezelelweyo ezifana ne-vitamin D kunye ne-calcium ukuba ugqirha wakho ukucebisile
Ukuphila nesi sifo kunye noko ukulindeleyo
Ngenxa yokuba esi sifo sahlukile kumntu ngamnye, kufuneka usebenzisane ngokusondeleyo nogqirha wakho ukuze ufumane isicwangciso sonyango esifanelekileyo kuwe. Unyango lunokukunceda uphile ubomi obungcono kwaye lwandise ubomi bakho.
Umntwana onesifo seGaucher unokukhula kancinci kunabanye abantwana. Basenokuba sele befikise ixesha elide. Ngokuxhomekeke kwiimpawu, kunokufuneka uziphephe izinto ezifana nemidlalo yokudibanisa umzimba. Abanye abantu banokufuneka benze umgudu ongakumbi wokuhlala besebenza ngenxa yeentlungu eziqatha kunye nokudinwa.
Ukuphila kwimeko efana nale yingxaki, ngoko ke kubaluleke kakhulu ukufuna inkxaso kusapho nakubahlobo, kunye neengcebiso zengqondo ukuba kuyimfuneko.
Umyalezo Wokuya Ekhaya
- Isifo seGaucher sisifo semfuza esidluliselwa kwizizukulwana ngezizukulwana, asisosifo esidluliselwa komnye umntu siye komnye.
- Iimpawu zinokwahluka kakhulu ngokuxhomekeke kuhlobo lwesifo kunye nomntu ngamnye. Kwabanye abantu, iimpawu azibalulekanga kangako.
- Kubaluleke kakhulu ukufumanisa isifo nokuqala unyango kwangethuba.
- Nangona kukho unyango oluphumelele kakhulu (i-ERT kunye ne-SRT) lohlobo 1 kunye nezinye iimpawu zohlobo 3, esi sifo asinakunyangwa ngokupheleleyo.
- Ukuba wena okanye umntwana wakho unesi sifo, kubalulekile ukulandela isicwangciso sonyango esifanelekileyo ngokusebenzisana ngokusondeleyo nogqirha wakho.
- Ukufumana inkxaso kwiintsapho nakumaqela enkxaso kukukhuthaza kakhulu amandla engqondo.
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