Ingabe ngezinye izikhathi uzwa ubuhlungu nokuvuvukala okungabekezeleleki ezandleni nasezinyaweni zakho, kanye namabala amancane abomvu emzimbeni wakho? Uma uzwa izimpawu ezibonakala zingahlobene, kungaba yinkinga enkulu. Namuhla sikhuluma ngesimo esingabangela izimpawu ezifanayo, kodwa abantu abaningi ezweni lethu abakaze bezwe ngaso. Leso yisifo sikaFabry.
Kalula nje, siyini isifo sikaFabry?
Isifo sikaFabry yisifo sofuzo esizuzwe njengefa ezizakhini zethu zofuzo. Akuvamile kakhulu. Umuntu onalesi sifo unamafutha anqwabelene emangqamuzaneni omzimba wakhe. Cabanga ukuthi bekuzokwenzekani uma umqoqi kadoti engafiki endlini yethu izinsuku ezimbalwa? Udoti uyanqwabelana endlini yethu, akunjalo? Yilokho okwenzekayo. Kulesi sifo, i-enzyme ephula futhi isuse lesi sithako esinamafutha emangqamuzaneni ethu ayikhiqizwa emzimbeni, noma ayisebenzi kahle.
Uma amafutha eqoqana ngale ndlela, imithambo yethu yegazi iqala ukuncipha. Lokhu kungabangela umonakalo esikhumbeni, ezinso, enhliziyweni, ebuchosheni, kanye nasesimisweni sezinzwa . Odokotela babiza lokhu ngokuthi "ukuphazamiseka kokugcinwa kwezinto." Lezi zimpawu zivame ukuqala ebuntwaneni. Futhi zivame kakhulu kwabesilisa kunakwabesifazane.
Ungakhathazeki. Nakuba kungekho ikhambi lalokhu, kunezindlela zokwelapha ezinhle ezitholakalayo namuhla ezingakusiza ukuthi uphathe izimpawu zakho futhi uphile impilo evamile.
Yini ebangela isifo sikaFabry?
Lesi yisifo esiwufuzo ngokuphelele. Lokho kusho ukuthi yinto oyizuza njengefa kumama noma kuyihlo. Sidinga i-enzyme ebizwa ngokuthi i-alpha-galactosidase A ukuze ihlukanise izinto ezifana namafutha, ama-wax, nama-fatty acid emizimbeni yethu. Umuntu onesifo se-Fabry akanayo le enzyme, noma uma enayo, ayisebenzi kahle. Ngakho-ke, njengoba ngishilo ngaphambili, lolu hlobo lwamafutha luqala ukwakheka ngaphakathi kwamaseli.
Ziyini izimpawu zalesi sifo?
Izimpawu zesifo sikaFabry zingahluka kuye ngomuntu nomuntu. Abanye abantu bathinteka kakhulu yilezi zimpawu, kanti abanye abathinteki kangako. Ake sibheke izimpawu eziyinhloko ezingabonakala.
| Isibonakaliso | Incazelo |
|---|---|
| Ubuhlungu nokuvuvukala emilenzeni | Lobuhlungu buyanda ngesikhathi sokuzivocavoca umzimba, uma unomkhuhlane, uma ushisa kakhulu, noma uma ukhathele. |
| Amabala esikhumba | Amabala amancane, abomvu noma onsomi avame ukubonakala endaweni ephakathi kwezinqe namadolo. |
| Ukukhubazeka kokubona | Izimo ezinjengokubona okufiphele noma i-cataract. |
| Ubunzima bokuzwa | Ukulahlekelwa ukuzwa noma "ukukhala" okuqhubekayo ezindlebeni. |
| Ukujuluka okunciphile | Ukujuluka okungaphansi komuntu ojwayelekile kuyajuluka. |
| Izinkinga zesistimu yokugaya ukudla | Ubuhlungu besisu kanye nesidingo sokuzikhulula ngokushesha ngemva kokudla. |
Izinkinga ezinkulu
Isifo sikaFabry singadala izinkinga ezinkulu ngokuhamba kwesikhathi. Le ngozi iphezulu kakhulu kwabesilisa. Kodwa-ke, abesifazane abaphethe isakhi sofuzo salesi sifo (abathwali) nabo bangaba nezimpawu. Ngakho-ke, kubaluleke kakhulu ukuthi abesifazane baqaphele lesi sifo futhi bafune iseluleko sezokwelapha njalo.
- Ingozi eyengeziwe yokuhlaselwa yinhliziyo noma isifo sohlangothi .
- Ukulimala okukhulu kwezinso kanye nokwehluleka kwezinso.
- Umfutho wegazi ophezulu.
- Ukwehluleka kwenhliziyo nokukhula kwenhliziyo.
- Ukuncipha kwamathambo (i-Osteoporosis).
Ungasithola kanjani lesi sifo ngokunembile?
Uma ngikhuluma iqiniso, ngezinye izikhathi kungathatha isikhathi eside ukuthola isifo sikaFabry. Isizathu siwukuthi izimpawu zifana nezezinye izifo eziningi. Ngenxa yalokho, abanye abantu abaqapheli ukuthi banesifo sikaFabry kuze kube yiminyaka eminingi izimpawu ziqalile. Phakathi naleso sikhathi, kungenzeka ukuthi baye babona odokotela abahlukene ngezimpawu ezahlukene, futhi ngezinye izikhathi bathola ngisho nokuxilongwa okungalungile.
Uma othile emndenini wakho eye waba nalezi zimpawu futhi ucabanga ukuthi usengozini, kungumqondo omuhle ukukhuluma nodokotela wakho mayelana nokuhlolwa kofuzo .
Uma uya kudokotela, uzokuxilonga futhi akubuze imibuzo efana nale:
- Uzizwa kanjani?
- Ziyini izimpawu zakho?
- Zaqala nini lezi?
- Ingabe ukhona emndenini wakho onalezi zimo?
Ngokusekelwe kulolu lwazi, uma udokotela esola ukuthi lokhu kungaba yisifo sikaFabry, uzokucela ukuthi uhlolwe igazi (ukuhlola izinga le-enzyme ye-alpha-galactosidase A engikhulume ngayo) noma uhlolwe i-DNA .
Iphathwa kanjani?
Kunezindlela ezimbili zokwelapha eziyinhloko zesifo sikaFabry.
1. Ukwelashwa Kokufaka I-Enzyme (ERT): Lena yindlela evame ukusetshenziswa kakhulu. Lokhu kuhilela ukunikeza umzimba i-enzyme engekho noma engasebenzi kahle ngesisombululo sikasawoti. Lokhu kuvame ukwenziwa esibhedlela noma emtholampilo cishe kanye njalo emavikini amabili. Lokhu kwelashwa kuvimbela ukuqongelela kwamafutha emzimbeni futhi kulawula ubuhlungu nezinye izimpawu.
2. I-Migalastat (i-Galafold): Lona umuthi omusha ongathathwa njengephilisi. Usebenza ngokuqinisa i-enzyme engasebenzi kahle nokuthuthukisa ukusebenza kwayo.
Ngaphezu kwalezi zindlela zokwelapha eziyinhloko, udokotela wakho angase ancome ezinye izindlela zokwelapha kuye ngezimpawu zakho.
- Izibulala-zinhlungu zobuhlungu obubangelwa ukulimala kwemizwa.
- Umuthi wezinkinga zesisu.
- Izinto zokunciphisa igazi ukuze kuvinjelwe ukuqhekeka kwegazi.
- Imithi yokucindezela kwegazi okuphezulu kanye nokuvikela izinso.
Uma lesi sifo silimaze kakhulu izinso, kungadingeka ukuthi kukhishwe i-dialysis noma kufakwe ukufakelwa kwezinso.
Ukuhlolwa okuqapha isimo sakho
Ngesikhathi sokwelashwa, udokotela wakho uzokwenza njalo izivivinyo ezahlukahlukene ukuze aqaphe isimo sakho.
| Ukuhlolwa | Incazelo elula |
|---|---|
| I-EKG (i-Electrocardiogram) | Ukulinganisa umsebenzi kagesi wenhliziyo, ukuhlola izinga lokushaya kwenhliziyo kanye nesigqi. |
| I-Echocardiogram | Ukuskena kwenhliziyo nge-ultrasound. Lokhu kulinganisa impilo kanye nokusebenza kwezingxenye zenhliziyo. |
| I-MRI yobuchopho | Ukuthola izithombe ezinemininingwane zobuchopho nezinye izitho zomzimba. |
| Ukuskena kwe-CT | Ukuthatha izithombe ezinemininingwane zengaphakathi lomzimba kusetshenziswa ama-X-ray. |
| Ezinye izivivinyo | Ukuhlolwa kwegazi, umchamo, i-thyroid, ukuhlolwa kokuzwa nokubona, ukuhlolwa kokusebenza kwamaphaphu. |
Umlayezo Wokuya Nawe Ekhaya
- Isifo sikaFabry siyisifo esidluliselwa ngofuzo, esidluliselwa ngofuzo. Asithelelani.
- Izimpawu eziningi ezingahlobene zingavela ndawonye, njengobuhlungu obukhulu ezithweni, amabala abomvu esikhumbeni, kanye nokuncipha kokujuluka.
- Kungathatha isikhathi ukuthola lesi sifo, kodwa ukuhlolwa kwegazi kanye ne-DNA kungaqinisekisa lesi sifo ngokuqinisekile.
- Nakuba lesi sifo singelapheki ngokuphelele, manje kunezindlela zokwelapha ezisebenzayo (njenge-ERT) ezingalawula izimpawu, zivimbele izinkinga ezinkulu, futhi zisize abantu baphile impilo evamile.
- Ungalokothi weqe ukwelashwa nokuhlolwa udokotela wakho akunikeza kona. Ukulandela njalo imiyalelo kadokotela wakho kubaluleke kakhulu empilweni yakho yesikhathi esizayo.
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