Ngaba ufumana nemivumbo emzimbeni wakho wonke? Okanye uziva udiniwe ngalo lonke ixesha kwaye unamathambo abuhlungu? Nangona ezi zinto zinokubonakala ngathi zizinto eziqhelekileyo, ngamanye amaxesha kunokubakho imeko engaqhelekanga emva kwazo, njengeGaucher Disease, ekufuneka sonke siyiqaphele. Ungakhathazeki, siza kuthetha ngale nto ngendlela elula namhlanje, ngendlela onokuyiqonda.
Yintoni kanye kanye iGaucher Disease?
Ngamafutshane, esi sisifo semfuza esizuzwa njengelifa. Ngokuchanekileyo, esi sisifo esikwicandelo leengxaki zokugcina i-lysosomal (LSD). Cinga ngaso njengomzi-mveliso ongaphakathi emzimbeni wethu. Lo mzi-mveliso kufuneka ususe ngokufanelekileyo izinto ezingafunekiyo, oko kukuthi, iimveliso ezilahliweyo. Kwisifo seGaucher, uhlobo oluthile lwamafutha emzimbeni wethu olubizwa ngokuba yi-sphingolipids aluqhekeki kwaye lususwe ngokufanelekileyo, kodwa endaweni yoko luqokelelana kwizitho ezifana nomongo wethambo, isibindi, kunye ne-spleen.
Kwenzeka ntoni xa amafutha eqokelelana ngolu hlobo?
- Ukudumba kwamalungu omzimba: Amalungu anjengesibindi kunye ne-spleen ayakhula.
- Amathambo aba buthathaka: Xa amathambo ezaliswe ngamafutha, aba buthathaka kwaye anokuqhekeka lula.
Into ebalulekileyo kukuba nangona kungekho nyango lupheleleyo lwesi sifo, kunokwenzeka ukulawula iimpawu ngonyango lwangoku kwaye uphile ubomi obuhle kakhulu .
Ziziphi iintlobo eziphambili zesifo seGaucher?
Kukho iintlobo ezintathu eziphambili zesifo seGaucher. Zonke ezi ntlobo zichaphazela amalungu omzimba kunye namathambo. Nangona kunjalo, ezinye iintlobo zichaphazela nengqondo. Masiziqonde ngokucacileyo ezi ntlobo.
| Uhlobo lwesifo (Uhlobo) | Indlela echaphazela ngayo kunye nolwazi olubalulekileyo |
|---|---|
| Uhlobo 1 |
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| Uhlobo 2 |
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| Uhlobo 3 |
|
Kutheni esi sifo senzeka? Yintoni unobangela?
Oku kubangelwa kukuguquka kwejini yethu (ijini ethi `GBA`). Le jini isiyalela ukuba senze i-enzyme ebizwa ngokuba yi-`glucocerebrosidase` (`GCase`).
Iienzyme ziiproteni ezinceda kwiinkqubo zeekhemikhali emizimbeni yethu. Omnye wemisebenzi ephambili yale enzyme ethi 'GCase' kukuqhekeza amafutha (`sphingolipids`) esikhankanyileyo ngaphambili size siwasuse emzimbeni.
Umntu onesifo seGaucher akavelisi ngokwaneleyo le enzyme emzimbeni wakhe. Emva koko, endaweni yokuba aqhekeke aze asuswe, la mafutha aqokelelana kwiindawo ezifana nezitho zomzimba kunye nomongo wethambo njenge "iiseli zeGaucher." Olu qokelelo lwoluhlu lweengxaki zonke.
Ngubani onokuthi afumane esi sifo?
Nabani na angafumana esi sifo. Nangona kunjalo, isifo se-type 1 Gaucher sixhaphake kakhulu kumaJuda ase-Ashkenazi. Ezinye iintlobo ezimbini (2 kunye no-3) azixhomekekanga kuhlanga okanye uhlanga oluthile.
Zithini iimpawu zesifo seGaucher?
Iimpawu ziyahluka kumntu nomntu. Abanye abantu abanazo phantse iimpawu, ngelixa abanye banokuba neempawu ezinzulu ezinokuba yingozi ebomini.
Iimpawu ezichaphazela amalungu omzimba kunye negazi
- I-anemia: Xa umongo wethambo uzele ngamafutha, ukuveliswa kweeseli ezibomvu zegazi kuyancipha. Xa iiseli ezibomvu zegazi zinganeli ukuthwala ioksijini efunekayo emzimbeni, uziva udiniwe kakhulu. Oku kubizwa ngokuba yi-anemia.
- Isibindi esikhulu kunye ne-spleen: La malungu mabini ayakhula ngenxa yokuqokelelwa kwamafutha. Oku kubangela ukuba isisu siphume size sidumbe. Xa i-spleen ikhula, itshabalalisa ii-platelet, ezinceda ukujiya kwegazi.
- Ukugruzuka nokopha: Ngenxa yokuba iiplatelets ziphantsi, nokuba kunqunyulwe kancinci kuthatha ixesha elide ukuyeka ukopha, nto leyo ebangela ukukruzuka nokopha empumlweni. Ukopha empumlweni nako kuqhelekile.
- Ukudinwa: I-anemia inokubangela ukuba uzive udiniwe kwaye ulele ngalo lonke ixesha.
- Iingxaki zemiphunga: Ukugcinwa kwamafutha emiphungeni kunokubangela ubunzima bokuphefumla.
Iimpawu ezichaphazela amathambo
Xa amathambo engafumani igazi, ioksijini, kunye nezondlo azidingayo, aqala ukuba buthathaka.
- Intlungu: Intlungu eqatha emathanjeni nasemalungeni. Iimeko ezifana ne-arthritis zinokuvela.
- I-Osteonecrosis: Elinye igama lale nto yi-'avascular necrosis'. Ngamafutshane, kuxa amathambo engenawo umoya-mpilo kwaye izicubu zamathambo zisifa.
- Amathambo aphuka lula: Esi sifo sibangela imeko ebizwa ngokuba yi-osteoporosis. Oku kuthetha ukuba amathambo alahlekelwa yi-calcium, nto leyo ewenza aqhekeke. Nokuba ukuwa okuncinci kunokubangela ukuba amathambo aqhekeke.
Iimpawu ezichaphazela ingqondo (zisebenza kwiintlobo 2 kunye no-3)
- Ubunzima bokuncancisa kunye nokukhula okulibazisekileyo (kwiintsana ezinesifo sohlobo lwesibini).
- Ubunzima bokufunda nokuqonda.
- Iingxaki zamehlo, ezifana nobunzima bokuhambisa amehlo akho ukusuka kwelinye icala ukuya kwelinye.
- Iingxaki ngokulinganisela kunye nokulungelelanisa.
- Ukuxhuzula kunye nokuxhuzula umzimba ngequbuliso.
Ufumanisa njani ukuba unaso esi sifo?
Ukuba unale mpawu, ugqirha wakho uza kuqala akuhlole aze akubuze ngeempawu zakho. Emva koko kukho iimvavanyo ezimbini eziphambili zokuqinisekisa ukuba unesifo:
1. Uvavanyo lwegazi: Olu vavanyo lulinganisa inqanaba le-enzyme ye-`GCase` egazini.
2. Uvavanyo lwe-DNA: Kuvavanywa amathe okanye isampulu yegazi ukuze kubonwe ukuba kukho utshintsho lwemfuza olubangela esi sifo.
Ukuba kukho umntu kusapho lwakho onesi sifo kwaye uceba ukuba nabantwana, uvavanyo lwe-DNA lunokuxelela ukuba ungumthwali waso . Abantu abathwala esi sifo abanazo iimpawu, kodwa abantwana babo basengozini yokufumana esi sifo. Kubaluleke kakhulu ukuthetha nogqirha wakho ngale nto.
Ziziphi iindlela zonyango lwesifo seGaucher?
Kwakhona, kukho unyango olusebenzayo kakhulu lwesifo seGaucher sohlobo loku-1. Nangona kunjalo, akukho nyango lomonakalo wengqondo obangelwa ziintlobo zesi-2 nezesi-3 okwangoku.
Iindlela ezimbini eziphambili zonyango lohlobo loku-1 zezi:
| Indlela Yonyango | Ingaba isebenza kanjani |
|---|---|
| Unyango Lokutshintshwa Kwe-Enzyme (ERT) | Le yeyona ndlela isetyenziswa kakhulu. I-enzyme engekhoyo emzimbeni inikwa ngemithambo yegazi kanye kwiiveki ezimbini. Le enzyme ihamba ngegazi ize iqhekeze amafutha aqokelelene kwizitho zomzimba. |
| Unyango Lokunciphisa I-Substrate (SRT) | Le yipilisi oyisela ngomlomo. Okwenziwa leli yeza kukunciphisa ukuveliswa kwamafutha ayingozi emzimbeni. Emva koko awaqokeleli. |
Olu nyango kufuneka luthathwe ubomi bonke ukuthintela ukonakala kwamalungu omzimba kunye namathambo.
Ndifanele ndimbone nini ugqirha?
- Ukuba wena okanye umntwana wakho ninayo nayiphi na kwezi mpawu sizikhankanyileyo (ingakumbi ukudumba okungachazwanga, ukudinwa kakhulu, iintlungu zamathambo, kunye nokudumba kwesisu) , qiniseka ukuba ubona ugqirha.
- Ukuba uyazi ukuba kukho umntu kusapho lwakho onesifo seGaucher, kuya kuba bubulumko ukuba uzihlolele ngokwakho.
- Ukuba ufunyaniswe unesi sifo, kubaluleke kakhulu ukwazisa abantakwenu kunye namalungu osapho lwakho asondeleyo, njengoko nabo basenokuba nesi sifo okanye banokuba ngabathwali baso.
Kuqhelekile ukuba uzive usoyika kwaye uxhalabile xa ufumanisa ukuba unesifo esingaqhelekanga njengesifo seGaucher. Kodwa khumbula, ngoku kukho unyango olusebenzayo kakhulu, ngakumbi kuhlobo loku-1. Ngokusebenzisana ngokusondeleyo nogqirha wakho kunye nokulandela isicwangciso sakho sonyango ngokusondeleyo, unokulawula iimpawu zakho kwaye uphile ubomi obonwabisayo.
Umyalezo Wokuya Ekhaya
- Isifo seGaucher sisifo esingaqhelekanga, esizuzwe njengelifa apho uhlobo oluthile lwamafutha angaphiliyo emzimbeni lugcinwa kwizitho zomzimba nasemathanjeni.
- Ukudinwa rhoqo, ukukrweleka lula, iintlungu zamathambo, kunye nokwanda kwepleen/isibindi zezona mpawu ziphambili.
- Kukho unyango olusebenzayo lohlobo oluqhelekileyo, uhlobo loku-1, kwaye kunokwenzeka ukuba uphile ubomi obuqhelekileyo.
- Iindidi 2 kunye no-3 nazo zichaphazela ingqondo kwaye ziimeko eziqatha ngakumbi.
- Ukuba wena okanye umntu osapho lwakho uneempawu, kubalulekile ukufuna ingcebiso kagqirha ngokukhawuleza. Ukufunyaniswa kwangoko kunokunceda ukuthintela umonakalo wexesha elide.
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