Kungenzeka ukuthi uqaphele ukuthi ingane yakho encane ibonakala ibuthakathaka kancane kunezinye izingane, inobunzima bokubamba intamo yayo iqonde, noma ikhula kancane kakhulu. Noma, njengomuntu omdala, uzizwa ukhathele ngendlela engavamile futhi unesiyezi lapho ukhuphuka izitebhisi noma uhamba amabanga amafushane? Isizathu salokhu kungaba yisimo esingavamile ongakaze uzwe ngaso. Yilokho kanye esikhuluma ngakho namuhla.
Kalula nje, siyini isifo iPompe?
Cabanga ngemizimba yethu njengefektri enkulu. Le fektri idinga abasebenzi abahlukene (amaprotheni/ ama-enzyme ) ukuze isebenze. Isifo se-Pompe senzeka lapho esinye sezisebenzi (iphrotheni ethile) esiphula i-glycogen , uhlobo lukashukela emzimbeni wethu, futhi sikhiqize amandla singekho noma singasebenzi kahle.
Manje njengoba lesi sisebenzi sesihambile, esikhundleni sokuguqulwa sibe amandla, lolo hlobo lukashukela olubizwa ngokuthi i-glycogen luqala ukuqongelela ngaphakathi kwamaseli omzimba wethu, ikakhulukazi ezindaweni ezifana nemisipha, inhliziyo , nesibindi . Kufana nezinto zokusetshenziswa ezinqwabelana efektri. Lokhu kuqongelela kwe-glycogen kulimaza lezo zitho futhi kunciphise ukusebenza kwazo.
Lesi sifo saziwa nangokuthi ``ukuntuleka kwe-GAA`` noma `` isifo sokugcina i-glycogen yohlobo lwesibili ( GSD )``.
Yini ebangela lesi sifo?
Isifo se-Pompe siyisifo esibangelwa izakhi zofuzo . Lokhu kusho ukuthi sizuza njengefa kubazali bethu. Kodwa-ke, ukuze ube nalesi sifo, kufanele uthole isakhi sofuzo esingalungile salesi sifo kubo bobabili umama nobaba wakho .
Uma umuntu ezuza ifa lofuzo olulodwa olunesici, ngeke abonise izimpawu zesifo. Kodwa uzoba ngumthwali walesi sifo. Lokhu kusho ukuthi angadlulisela ifa lofuzo olunesici ezinganeni zakhe.
Ziyini izimpawu zalesi sifo?
Izimpawu zalesi sifo, ubudala bokuqala kwalesi sifo, kanye nobunzima baso kungahluka kakhulu kumuntu nomuntu. Kungahlukaniswa ngezigaba ezimbili eziyinhloko.
| Isikhathi sokuqala kwalesi sifo | Izimpawu ezivame ukubonakala |
|---|---|
| Uhlobo lokuqala kwezinsana (Kusukela ezinyangeni ezimbalwa kuya onyakeni) |
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| Uhlobo lokuqala kwesikhathi (Kunoma yimuphi ubudala, kusukela ebuntwaneni kuya ekugugeni) |
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Indlela yokuxilonga lesi sifo ngokunembile?
Ngenxa yokuthi lezi zimpawu zivame ukufana nezezinye izimo, ukuxilongwa kungaba nzima kancane. Udokotela wakho angase akubuze imibuzo efana nale ukuze akusize uqonde isimo:
- Ingabe uzizwa ubuthakathaka, uvame ukuwa, noma unenkinga yokuhamba, ukugijima, noma ukukhuphuka izitebhisi?
- Ingabe unenkinga yokuphefumula, ikakhulukazi ebusuku noma uma ulele phansi?
- Ingabe uphathwa yikhanda uma uvuka ekuseni?
- Ingabe uzizwa ukhathele kakhulu usuku lonke?
- Ingabe ukhona emndenini wakho obe nalezi zimpawu?
Ngaphezu kwale mibuzo, ezinye izivivinyo zingenziwa ukuze kunqunywe ezinye izimo zezokwelapha. Uma kusolwa ukuthi isifo sePompe sinesifo, lezi zivivinyo zenziwa ukuqinisekisa ukuxilongwa:
- Ukuhlolwa kwegazi: Lokhu kuhlola ukuthi iphrotheni (i-enzyme) entula isebenza kahle kangakanani.
- I-Muscle Biopsy: Kuthathwa ingxenye encane yemisipha bese ihlolwa ngaphansi kwe-microscope ukuze kubonakale ukuthi ingakanani i-glycogen egcinwe kuyo.
- Ukuhlolwa Kofuzo:Bafuna ngqo isici sofuzo esibangela lesi sifo.
Into ebaluleke kakhulu ukuthi kungathatha isikhathi ukuthola lesi sifo. Kungathatha izinyanga ezintathu nje kuphela enganeni, futhi kungathatha iminyaka engu-7-9 kumuntu omdala. Ngakho-ke kubalulekile ukubekezela.
Yiziphi izindlela zokwelapha?
Nakuba okwamanje kungekho ukwelashwa kwalesi sifo, kunezindlela zokwelapha ezisebenza kahle kakhulu ezingalawula izimpawu futhi zandise impilo. Kubaluleke kakhulu ukuqala ukwelashwa kusenesikhathi , ikakhulukazi ezinganeni.
Ukwelashwa okuyinhloko yi -Enzyme Replacement Therapy (ERT) . Kalula nje, lokhu kuhilela ukunikeza umzimba i-enzyme (iphrotheni) engekho noma entulekayo emzimbeni ngomjovo. Uma lo mjovo usutholakele, umzimba uyakwazi ukuphula i-glycogen kashukela. Eminye yemithi esetshenziswa kulokhu yile:
- `I-Myozyme` (ngokuvamile yezingane)
- `Lumizyme`
- `I-Nexviazyme` (yohlobo lokuqala kwesifo)
Ngaphezu kwalokho, kukhona ukwelashwa okusha okuvunyelwe abantu abadala abangasabeli kahle ekwelashweni kwe-ERT. Kusebenzisa inhlanganisela yemithi emibili ethathwa njengomjovo (`Pombiliti`) kanye nama-capsule (`Opfolda`).
Izinto okufanele uzicabangele uma uphila nalesi sifo
Ukuphila nesifo iPompe kungaba yinselele, ngakho-ke kubalulekile ukuthola ukwesekwa kwakho nomndeni wakho. Ungajoyina amaqembu okusekelana lapho abanye abantu abanalesi sifo bengabelana khona ngolwazi futhi bathole iseluleko esiwusizo.
Isibonelo, uma ukudla kunzima ukukugwinya, izithambisi zingafakwa ekudleni. Abanye abantu kungadingeka banikezwe ukudla ngepayipi lokuphakela ukuze bathole ukudla abakudingayo.
Ngenxa yokuthi lesi sifo sithinta izingxenye eziningi zomzimba, udinga ukwesekwa yithimba lodokotela abangochwepheshe.
- Udokotela wenhliziyo
- Udokotela wezinzwa
- Udokotela Wezokwelapha Ukuphefumula
- Isazi sokudla okunempilo
Kungokusekelwa yiwo wonke umuntu ukuthi singakwazi ukulawula izimpawu futhi sihlale siphilile.
Umlayezo Wokuya Nawe Ekhaya
- Isifo sikaPompe yisifo esidluliselwa ngofuzo kubazali.
- Izimpawu eziyinhloko ubuthakathaka bemisipha kanye nobunzima bokuphefumula.
- Lesi sifo singabonakala ngezindlela ezimbili: ebuntwaneni nasebudaleni.
- Ngokuthola lesi sifo kusenesikhathi futhi uqale ukwelashwa ngokushintsha ama-enzyme (ERT), umonakalo obangelwa yilesi sifo ungancishiswa.
- Uma wena noma ingane yakho ninokungabaza ngalezi zimpawu, bonana nodokotela ngokushesha bese nifuna iseluleko.
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