Uzizwa sengathi izitho zakho zomzimba ziyasha noma ziyaluma? Ingabe ngezinye izikhathi uzizwa ukhathele kakhulu ngisho nangemva kokwenza imisebenzi emincane? Nakuba lokhu kungase kubonakale njengezinto ezivamile, ngezinye izikhathi kungaba khona isimo esingavamile sofuzo ngemuva kwalokhu, njengesifo sikaFabry. Kungenzeka ukuthi awukaze uzwe ngaleli gama. Kodwa kubaluleke kakhulu ukwazi ngalo. Ake sixoxe ngalo namuhla.
Kalula nje, siyini isifo sikaFabry?
Isifo sikaFabry yisifo esibangelwa izakhi zofuzo emindenini yethu. Singavamile kakhulu. Kalula nje, umuntu onalesi sifo akakhiqizi i-enzyme ebizwa ngokuthi i-alpha-galactosidase A (i-alpha-GAL ngamafuphi) ngendlela efanele.
Manje ungase uzibuze ukuthi iyini le enzyme. I-enzyme uhlobo lweprotheni olusiza ezinqubweni ezahlukene zamakhemikhali emzimbeni wethu. Umsebenzi oyinhloko wale enzyme ye-alpha-GAL ukuphula uhlobo lwamafutha olubizwa ngokuthi ama-sphingolipids emzimbeni wethu, okungukuthi, ukuwagaya nokuwasusa emzimbeni.
Cabanga nje, kwenzekani uma umqoqi kadoti engafiki endlini yethu izinsuku eziningi? Udoti uqongelela yonke indlu, akunjalo? Yilokho okwenzekayo. Lapho i-enzyme ye-alpha-GAL ingekho, uhlobo lwamafutha olubizwa ngokuthi ama-sphingolipids luqala ukuqongelela emithanjeni yegazi nasezicutshini zethu. Lokhu kuqongelela kungalimaza inhliziyo yethu, izinso, ubuchopho, isimiso sezinzwa kanye nesikhumba. Lokhu kungokweqembu lezifo ezibizwa ngokuthi izifo zokugcina i-lysosomal.
Yiziphi izinhlobo eziyinhloko zalesi sifo?
Isifo se-Fabry singahlukaniswa ngezinhlobo ezimbili eziyinhloko, kuye ngokuthi izimpawu ziqala ukuvela nini.
| Uhlobo lwesifo (Uhlobo) | Incazelo |
|---|---|
| Uhlobo lwakudala | Kulolu hlobo, izimpawu ziqala ebuntwaneni noma ebusheni. Ngezinye izikhathi, izimpawu ezifana nokuvuvukala kwezandla nezinyawo zingaqala zineminyaka emi-2 ubudala. Izimpawu ziya ngokuya ziba zimbi ngokuhamba kwesikhathi. |
| Uhlobo lokuqala sekwephuzile/olungajwayelekile | Abantu abanalolu hlobo bangase bangabi nazimpawu baze bafike eminyakeni engama-30 noma ngaphezulu. Ngezinye izikhathi lesi sifo siqala ukutholakala ngemva kokuba isimo esibi, njengokwehluleka kwezinso noma isifo senhliziyo, sivele. |
Isifo sikaFabry sikhula kanjani? Ingabe sidluliselwa ngofuzo?
Yebo, lesi yisifo esizuzwe njengefa ngokuphelele. Izakhi zofuzo zethu zitholakala ezintweni ezibizwa ngama-chromosome. Izakhi zofuzo ezinephutha ezibangela lesi sifo zitholakala ku-chromosome X.
Abesifazane banama-chromosome amabili e-X (XX) kanti abesilisa bane-chromosome eyodwa ye-X kanye ne-chromosome eyodwa ye-Y (XY). Lo mehluko uphinde uthinte indlela lesi sifo esidluliselwa ngayo kusuka esizukulwaneni kuya kwesinye.
Masiqonde kalula:
- Uma ubaba enesifo sikaFabry:
- Wonke amadodakazi akhe azuza leli chromosome X elingasebenzi kahle. Lokhu kusho ukuthi wonke amadodakazi akhe anamandla okuthola lesi sifo.
- Kodwa ngenxa yokuthi amadodana athola i-chromosome Y koyise, amadodana awayitholi le sifo koyise.
- Uma umama enesifo sikaFabry:
- Ngenxa yokuthi umama unama-chromosome amabili e-X, ingane ngayinye (kungaba indodakazi noma indodana) inethuba elingu-50% lokuthola i-chromosome ye-X enephutha. Lokhu kusho ukuthi ezinye izingane zingase zibe nalesi sifo, kanti ezinye zingase zingabi naso.
Ziyini izimpawu zesifo sikaFabry?
Izimpawu zingahluka kumuntu nomuntu. Amadoda ngokuvamile aba nezimpawu ezinzima kakhulu kunabesifazane. Abanye besifazane bangase babe nezimpawu ezincane kakhulu noma bangabi nazo nhlobo.
Lezi yizimpawu ezivamile:
- Ukuba ndikindiki, ukuqaqamba, noma ubuhlungu obukhulu ezandleni nasezinyaweni .
- Ubuhlungu obukhulu ngesikhathi sokuzivocavoca noma umsebenzi womzimba.
- Ukungabekezeleli amakhaza noma ukushisa.
- Ukujuluka okunciphile (hypohidrosis) noma ukungajuluki nhlobo (anhidrosis).
- Izinkinga zesisu ezifana nobuhlungu besisu, isifo sohudo kanye nokuqunjelwa.
- Isiyezi.
- Izimpawu ezifana nezomkhuhlane, njengomkhuhlane, izinhlungu zomzimba, kanye nokukhathala.
- Ukulahlekelwa ukuzwa noma ukukhala ezindlebeni (i-tinnitus).
- Amaqhubu amancane abomvu-onsomi (ama-angiokeratomas) avela esikhumbeni sesifuba, umhlane, kanye nendawo yokuzala.
- Ukuvuvukala (ukuvuvukala) kwemilenze, amaqakala, nezinyawo.
- Ukwanda kwamazinga amaprotheni emchameni (i-proteinuria).
- Iphethini ekhethekile (i-cornea verticillata) ikhula ngaphakathi kweso. Lokhu akuthinti umbono. Ingabonakala kuphela ngokuhlolwa kwamehlo okukhethekile (ukuhlolwa kwesibani esinqunyiwe).
Izinkinga eziyingozi ezingase zivele ngenxa yalesi sifo
Uhlobo lwamafutha olushiwo ngenhla (ama-sphingolipid) lunganqwabelana emzimbeni iminyaka eminingi futhi lungalimaza izitho zethu ezinkulu. Lokhu kungaholela ezinkingeni ezingaba yingozi ngisho nokuphila.
- Isifo senhliziyo: ukushaya kwenhliziyo okungajwayelekile (i-arrhythmia), ukuhlaselwa yinhliziyo, ukuvuvukala kwenhliziyo, kanye nokwehluleka kwenhliziyo.
- Ukwehluleka kwezinso: Ngokuhamba kwesikhathi, kungadingeka i-dialysis noma ngisho nokufakelwa izinso.
- Ukuhlaselwa yisifo sohlangothi: Ukuhlaselwa yisifo sohlangothi noma ukuhlaselwa yisifo sohlangothi okungapheli (i-TIA) kungenzeka ngenxa yokuvaleka kwemithambo yegazi ebuchosheni.
- Ukulimala kwemizwa (i-peripheral neuropathy).
Ungasithola kanjani lesi sifo?
Uma unezimpawu ezinjengalezi, udokotela wakho angase asole lesi sifo futhi akuthumelele ukuhlolwa okuningana.
| Ukuhlolwa | Incazelo |
|---|---|
| Ukuhlolwa kwe-enzyme | Lokhu ukuhlolwa kwegazi. Kulinganisa umsebenzi we-enzyme ye-alpha-GAL egazini lakho. Lokhu kuhlolwa kunembe kakhulu kwabesilisa, kodwa akunembe kangako kwabesifazane. |
| Ukuhlolwa kofuzo | Lolu vivinyo olucacile kakhulu. Ukuhlolwa kwe-DNA kunganquma ngokuqinisekile ukuthi kukhona yini uguquko ku-gene ye-GLA ebangela lesi sifo. |
Yiziphi izindlela zokwelapha?
Akukho ukwelashwa kwesifo sikaFabry okwamanje. Kodwa ungalilahli ithemba. Manje kunezindlela zokwelapha eziphumelela kakhulu ezingalawula izimpawu, zinciphise ukuqongelela kwamafutha emzimbeni, futhi zivimbele izinkinga ezinkulu.
Kunezindlela ezimbili eziyinhloko zokwelapha:
1. Ukwelashwa Kokufaka Ama-Enzyme (ERT)
Lokhu kuhilela ukukunikeza inguqulo eyenziwe elebhu ye-enzyme ye-alpha-GAL, engakhiqizi umzimba wakho. Lo muthi unikezwa njengokufakwa kwe-IV, njenge-saline, njalo emavikini amabili.Lokhu kwelashwa kuvimbela ukunqwabelana kwamafutha emzimbeni.
2. Ukwelashwa Komnakekeli Womlomo
Leli iphilisi oliphuzayo. Lo muthi usebenza ngokulungisa i-enzyme ye-alpha-GAL enephutha emzimbeni wakho bese uwenza usebenze futhi. Kodwa-ke, lokhu kwelashwa akusebenzi kuwo wonke umuntu. Kuncike kuhlobo lokuguqulwa kwezakhi zofuzo zakho. Udokotela wakho uzonquma ukuthi lokhu kulungile yini kuwe.
Ngaphezu kwalezi zindlela zokwelapha eziyinhloko, imithi ehlukile inganikezwa ngenxa yobuhlungu, ukucasuka kwesisu, nezinye izimpawu.
Kufanele ubonane nini nodokotela?
Uma utholakale unesifo sikaFabry, kufanele uxhumane nodokotela wakho ngokushesha uma uhlangabezana nanoma yiziphi izimpawu ezilandelayo:
- Izimpawu zokuhlaselwa yinhliziyo njengobuhlungu besifuba, ukuphelelwa umoya, kanye nokushaya kwenhliziyo okungajwayelekile (uma lokhu kwenzeka, hamba uye eMnyangweni Wezimo Eziphuthumayo (ETU) wesibhedlela ngokushesha).
- Ukuvuvukala okukhulu.
- Izimpawu zokukhubazeka okufana nokuzungeza okukhulu, izinguquko embonweni, kanye nobunzima bokukhuluma (yiya ku-ETU ngokushesha kulesi simo futhi).
- Ukulahlekelwa ukuzwa ngokuzumayo.
- Ubuhlungu obukhulu besisu noma ukuqunjelwa.
Kuvamile ukuzizwa wesaba futhi ukhathazekile uma utholakala unesifo sikaFabry. Ungase ube nokukhathazeka ngekusasa lakho kanye nezingane zakho. Kodwa-ke, ukwelashwa okuphumelelayo sekuyatholakala futhi ucwaningo olusha seluseduze. Ngokulandela uhlelo lwakho lokwelashwa eduze kanye nokusebenzisana eduze nodokotela wakho, ungaphatha izimpawu zakho futhi uvimbele umonakalo wesikhathi eside.
Umlayezo Wokuya Nawe Ekhaya
- Isifo sikaFabry siyisifo esingavamile esibangelwa yizakhi zofuzo (esizuzwe njengefa).
- Ukuqongelela uhlobo oluthile lwamafutha emzimbeni kungalimaza izitho zomzimba ezifana nenhliziyo, izinso kanye nobuchopho.
- Izimpawu ezifana nokushisa ezithweni, ukukhathala okukhulu, ukuqubuka kwesikhumba, kanye nokungajuluki yizona eziyinhloko.
- Nakuba kungekho ikhambi eliphelele lalokhu, ukwelashwa ngama-enzyme kanye neminye imithi kungalawula lesi sifo futhi kwandise impilo.
- Uma wena noma othile emndenini wakho enalezi zimpawu, kubaluleke kakhulu ukufuna iseluleko sezokwelapha ngokushesha.
💬 Comments (0)
Awekho amazwana athunyelwe okwamanje. Faka amazwana akho lapha okokuqala ngqa.
Engeza amazwana akho