Ingabe uthola nemihuzuko emzimbeni wakho wonke? Noma uzizwa ukhathele njalo futhi unamathambo abuhlungu? Nakuba lokhu kungase kubonakale njengezinto ezivamile, ngezinye izikhathi kungaba khona isimo esingavamile ngemuva kwazo, njengesifo seGaucher, okudingeka sonke sisiqaphele. Ungakhathazeki, sizoxoxa ngalokhu ngendlela elula namuhla, ngendlela ongayiqonda.
Iyini ngempela iGaucher Disease?
Kalula nje, lesi yisifo sofuzo esizuzwa njengefa. Ukuze kube sobala, lesi yisifo esisesigabeni sezinkinga zokugcina i-lysosomal (LSD). Cabanga ngaso njengefektri engaphakathi emzimbeni wethu. Le fektri idinga ukususa kahle izinto ezingafuneki, okungukuthi, imikhiqizo engcolile. Esifweni seGaucher, uhlobo olukhethekile lwamafutha emzimbeni wethu olubizwa ngokuthi ama-sphingolipids aluqhekeki futhi lususwe kahle, kodwa kunalokho luqongelela ezithweni zomzimba ezifana nomnkantsha wamathambo, isibindi, kanye ne-spleen.
Kwenzekani uma amafutha eqongelela kanje?
- Ukuvuvukala kwezitho zomzimba: Izitho zomzimba ezifana nesibindi kanye ne-spleen ziyakhula.
- Amathambo aba buthakathaka: Uma amathambo egcwele amafutha, aba buthakathaka futhi angaphuka kalula.
Into ebalulekile ukuthi nakuba kungekho ikhambi eliphelele lalesi sifo, kungenzeka ukulawula izimpawu ngemithi yamanje futhi uphile impilo enhle kakhulu .
Yiziphi izinhlobo eziyinhloko zesifo seGaucher?
Kunezinhlobo ezintathu eziyinhloko zesifo iGaucher. Zonke lezi zinhlobo zithinta izitho zomzimba namathambo. Kodwa-ke, ezinye izinhlobo zithinta nobuchopho. Masiziqonde kahle lezi zinhlobo.
| Uhlobo lwesifo (Uhlobo) | Indlela okukuthinta ngayo kanye nolwazi olubalulekile |
|---|---|
| Uhlobo 1 |
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| Uhlobo 2 |
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| Uhlobo 3 |
|
Kungani lesi sifo senzeka? Iyini imbangela?
Lokhu kubangelwa ukuguquka kwezakhi zofuzo zethu (izakhi zofuzo ze-`GBA`). Le zakhi zofuzo zisiyala ukuba senze i-enzyme ebizwa ngokuthi i-`glucocerebrosidase` (`GCase`).
Ama-enzyme amaprotheni asiza ngezinqubo zamakhemikhali emizimbeni yethu. Omunye wemisebenzi eyinhloko yale enzyme ethi 'GCase' ukuphula amafutha (`sphingolipids`) esikhulume ngawo ngaphambili bese siwasusa emzimbeni.
Umuntu onesifo se-Gaucher akakhiqizi ngokwanele le enzyme emzimbeni wakhe. Ngemuva kwalokho, esikhundleni sokuqhekeka nokususwa, lawo mafutha aqoqana ezindaweni ezifana nezitho zomzimba kanye nomnkantsha wamathambo "njengamaseli e-Gaucher." Lokhu kuqongelela kuyimbangela yazo zonke izinkinga.
Ubani onamathuba amaningi okuthola lesi sifo?
Noma ubani angayithola le sifo. Kodwa-ke, isifo se-Gaucher sohlobo 1 sivame kakhulu phakathi kwamaJuda ase-Ashkenazi. Ezinye izinhlobo ezimbili (2 no-3) aziqondile kunoma yiluphi uhlanga noma uhlanga.
Ziyini izimpawu zesifo seGaucher?
Izimpawu ziyahlukahluka kumuntu nomuntu. Abanye abantu cishe abanazo izimpawu, kanti abanye bangaba nezimpawu ezimbi ezingasongela ukuphila.
Izimpawu ezithinta izitho zomzimba kanye negazi
- I-anemia: Lapho umongo wethambo ugcwele amafutha, ukukhiqizwa kwamangqamuzana abomvu egazi kuyancipha. Uma kungekho amangqamuzana abomvu egazi anele ukuthwala umoya-mpilo odingwa umzimba, uzizwa ukhathele kakhulu. Lokhu kubizwa ngokuthi i-anemia.
- Isibindi esikhulu kanye nobende: Lezi zitho ezimbili ziyakhula ngenxa yokuqongelela kwamafutha. Lokhu kubangela ukuthi isisu siphume futhi sivuvuke. Lapho ubende ukhula, ubhubhisa ama-platelet, asiza ukugoba kwegazi.
- Ukuphuka nokopha: Ngenxa yokubala okuphansi kwama-platelet, ngisho nokusikeka okuncane kuthatha isikhathi eside ukuyeka ukopha, okuholela ekushayweni nasekuphumeni kwegazi ekhaleni. Ukopha ekhaleni nakho kuvamile.
- Ukukhathala: I-anemia ingabangela ukuthi uzizwe ukhathele futhi ulele ngaso sonke isikhathi.
- Izinkinga zamaphaphu: Ukugcwala kwamafutha emaphashini kungabangela ubunzima bokuphefumula.
Izimpawu ezithinta amathambo
Uma amathambo engatholi igazi, umoya-mpilo, kanye nezakhamzimba azidingayo, aqala ukuba buthaka.
- Ubuhlungu: Ubuhlungu obukhulu emathanjeni nasemalungeni. Izimo ezifana ne-arthritis zingase zivele.
- I-Osteonecrosis: Elinye igama lalokhu yi-'avascular necrosis'. Kalula nje, kulapho amathambo entula umoya-mpilo futhi izicubu zamathambo zifa.
- Amathambo aphuka kalula: Lesi sifo sibangela isimo esibizwa ngokuthi i-osteoporosis. Lokhu kusho ukuthi amathambo alahlekelwa yi-calcium, okwenza aqhekeke. Ngisho nokuwa okuncane kungabangela ukuba amathambo aphuke.
Izimpawu ezithinta ubuchopho (zisebenza ezinhlotsheni 2 no-3)
- Ubunzima bokuncelisa kanye nokukhula okulibazisekile (ezinganeni ezinesifo sohlobo 2).
- Ubunzima bokufunda nokuqonda.
- Izinkinga zamehlo, njengobunzima bokuhambisa amehlo akho kusukela kolunye uhlangothi kuya kolunye.
- Izinkinga ngokulinganisela nokuxhumana.
- Ukuquleka kanye nokugxumagxuma komzimba ngokuzumayo.
Uthola kanjani ukuthi unalesi sifo?
Uma unalezi zimpawu, udokotela wakho uzoqala akuhlole bese ebuza ngezimpawu zakho. Bese kuba nezivivinyo ezimbili eziyinhloko zokuqinisekisa ukuxilongwa:
1. Ukuhlolwa kwegazi: Lokhu kulinganisa izinga le-enzyme ethi `GCase` egazini.
2. Ukuhlolwa kwe-DNA: Kuhlolwa amathe noma isampula yegazi ukuze kutholakale ukuthi kukhona yini ukuguquka kwezakhi zofuzo okubangela lesi sifo.
Uma othile emndenini wakho enalesi sifo futhi uhlela ukuba nezingane, ukuhlolwa kwe-DNA kungakutshela ukuthi ungumthwali waso . Abathwali abanazo izimpawu, kodwa izingane zabo zisengozini yokuthola lesi sifo. Kubaluleke kakhulu ukukhuluma nodokotela wakho ngalokhu.
Yiziphi izindlela zokwelapha isifo seGaucher?
Futhi, kunezindlela zokwelapha eziphumelela kakhulu zesifo se-Gaucher sohlobo 1. Kodwa-ke, okwamanje alikho ikhambi lokulimala kobuchopho okubangelwa izinhlobo 2 no-3.
Izindlela ezimbili eziyinhloko zokwelapha uhlobo 1 yilezi:
| Indlela Yokwelapha | Indlela Esebenza Ngayo |
|---|---|
| Ukwelashwa Kokufaka Ama-Enzyme (ERT) | Lena yindlela evame ukusetshenziswa kakhulu. I-enzyme engekho emzimbeni inikezwa ngemithambo yegazi cishe kanye njalo emavikini amabili. Le enzyme ihamba egazini futhi ichithe amafutha aqongeleleke ezithweni zomzimba. |
| Ukwelashwa Kokunciphisa I-Substrate (SRT) | Leli iphilisi oliphuza ngomlomo. Lo muthi okwenzayo ukunciphisa ukukhiqizwa kwalawo mafutha ayingozi emzimbeni. Ngemuva kwalokho awaqongelelani. |
Lezi zindlela zokwelapha kumele zithathwe impilo yonke ukuze kuvinjelwe ukulimala kwezitho zomzimba namathambo.
Kufanele ngimbone nini udokotela?
- Uma wena noma ingane yakho ninezinye zezimpawu esixoxe ngazo (ikakhulukazi ukudumba okungachazeki, ukukhathala ngokweqile, ubuhlungu bamathambo, nokuvuvukala kwesisu) , qiniseka ukuthi ubona udokotela.
- Uma wazi ukuthi othile emndenini wakho unesifo seGaucher, kungaba ukuhlakanipha ukuzihlola wena.
- Uma kutholakale ukuthi unesifo, kubaluleke kakhulu ukwazisa izingane zakini kanye namalungu omndeni wakho aseduze, njengoba nabo bengase babe naso lesi sifo noma babe ngabathwali baso.
Kuvamile ukuzizwa wesaba futhi ukhathazekile uma uthola ukuthi unesifo esingavamile njengesifo seGaucher. Kodwa khumbula, manje kunezindlela zokwelapha eziphumelela kakhulu, ikakhulukazi zohlobo 1. Ngokusebenzisana eduze nodokotela wakho nokulandela uhlelo lwakho lokwelashwa eduze, ungalawula izimpawu zakho futhi uphile impilo ejabulisayo.
Umlayezo Wokuya Nawe Ekhaya
- Isifo se-Gaucher yisifo esingavamile, esizuzwe njengefa lapho uhlobo oluthile lwamafutha angenampilo emzimbeni lufakwa ezithweni nasemathanjeni.
- Ukukhathala okuvamile, ukuphuka kalula, ubuhlungu emathanjeni, kanye nokwanda kwesibindi/ubende yizimpawu eziyinhloko.
- Kunezindlela zokwelapha ezisebenzayo zohlobo oluvame kakhulu, uhlobo 1, futhi kungenzeka ukuphila impilo evamile.
- Izinhlobo 2 no-3 nazo zithinta ubuchopho futhi ziyizimo ezinzima kakhulu.
- Uma wena noma othile emndenini wakho enezimpawu, kubalulekile ukufuna iseluleko sezokwelapha ngokushesha okukhulu. Ukutholwa kusenesikhathi kungasiza ekuvimbeleni umonakalo wesikhathi eside.
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