Siyini isifo sikaFabry? Ake sifunde ngalesi simo esingavamile ngamazwi alula

Ingabe ngezinye izikhathi uthola imizwa yokusha engabekezeleleki ezintendeni nasezinyaweni zakho ngaphandle kwesizathu? Noma uzizwa ukhathele kakhulu futhi ungajuluki, futhi unamabala amancane abomvu esikhumbeni sakho? Ungase ucabange ukuthi lezi yizinto ezivamile. Kodwa lezi zingaba futhi izimpawu zesimo esingavamile sofuzo esibizwa ngokuthi i-Fabry Disease , esingakakuzwa okuningi ngaso. Ungakhathazeki, sizoxoxa ngokuthi leli gama liyini, ukuthi kungani lenzeka, yiziphi izimpawu, nokuthi kukhona yini ukwelashwa, kulesi sihloko namuhla.

Iyini ngempela i-Fabry Disease?

Kalula nje, isifo sikaFabry siyisimo esibangelwa ukukhubazeka kwezakhi zofuzo emzimbeni wethu. Okwenzekayo ukuthi ukukhiqizwa kwe-enzyme ebalulekile emzimbeni wethu kuncishisiwe noma akukho nhlobo. Igama lale enzyme yi -alpha-galactosidase A , noma `(alpha-GAL)` ngamafuphi.

Cabanga nje ukuthi imizimba yethu inesimiso esifana nenkampani yokulahla udoti. Le enzyme ebizwa ngokuthi i-'alpha-GAL' iyisisebenzi esihlakaniphe kakhulu kuleyo nkampani. Umsebenzi wayo ukuhlanza nokuphula ama-sphingolipid ngendlela efanele, uhlobo lwamafutha (ngokuqondile, into efana namafutha) ekhiqizwa ngaphakathi kwamaseli ethu.

Manje, emzimbeni womuntu onesifo sikaFabry, lesi sisebenzi esihlakaniphile, i-enzyme ethi `alpha-GAL`, asikho ngokwanele. Kwenzekani-ke? Lawo mafutha afana nodoti abizwa ngokuthi `sphingolipids` aqala ukuqongelela emzimbeni. Njengenqwaba yodoti eqongelela endlini uma udoti ungasuswa. Lolu hlobo lwamafutha luqongelela kakhulu emithanjeni yegazi, enhliziyweni, ezinso, ebuchosheni, ohlelweni lwezinzwa nasesikhumbeni. Lapho amafutha eqongelela kanje ngokuhamba kwesikhathi, lezo zitho ziqala ukonakala. Lokhu kungokweqembu lezifo ezibizwa ngokuthi i-lysosomal storage disorders .

Yiziphi izinhlobo eziyinhloko zalesi sifo?

Isifo se-Fabry singahlukaniswa ngezinhlobo ezimbili eziyinhloko, kuye ngokuthi izimpawu ziqala ukuvela nini.

Ingabe lesi sifo sivamile? Ngubani ositholayo?

Isifo se-Fabry siyisifo esingavamile kakhulu. Ngokwezibalo, uhlobo oluvamile luvela cishe koyedwa kwabesilisa abangu-40,000. Kodwa-ke, uhlobo lokuqala sekwephuzile luvame kakhulu. Lungathinta phakathi koyedwa kwabesilisa abangu-1,500 no-4,000.

Kunzima ukusho ukuthi lesi sifo sivame kangakanani kwabesifazane, njengoba abanye besifazane bengenazo nhlobo izimpawu, noma ezingembi kangako, ngakho-ke baphila ngaphandle kokuxilongwa ukuthi banalesi sifo.

Indlela lokhu okudluliselwa ngayo ezizukulwaneni ngezizukulwane

Lesi yisifo esibangelwa izakhi zofuzo, okusho ukuthi sidluliselwa kusuka kubazali kuya ezinganeni. Izakhi zofuzo ezinephutha ezibangela lokhu ziku -chromosome yethu engu-X . Ake sibone ukuthi lokhu kusebenza kanjani emindenini.

• Uma ubaba enalesi sifo: Ubaba onesifo sikaFabry udlulisela i-chromosome yakhe engu-X kuwo wonke amadodakazi akhe . Lokhu kusho ukuthi wonke amadodakazi akhe azozuza i-gene mutation yalesi sifo. Kodwa amadodana awasengozini . Lokhu kungenxa yokuthi amadodana athola i-chromosome engu-Y kubaba wawo, hhayi i-chromosome engu-X.
• Uma umama enalesi sifo: Umama onesifo sikaFabry unethuba elingu-50% lokudlulisela i-chromosome X enephutha enganeni ngayinye (kungaba indodakazi noma indodana) . Kufana nokuphonsa uhlamvu lwemali. Ingane eyodwa ingase izuze lesi sifo njengefa, kanti enye ingase ingabi naso.

Ziyini izimpawu zesifo sikaFabry?

Izimpawu zingahluka kakhulu kumuntu nomuntu. Abanye abantu banezimpawu ezincane kakhulu, kanti abanye bangase babe nezimpawu ezinzima. Amadoda ngokuvamile anezimpawu ezinzima kakhulu kunabesifazane.

Lezi ezinye zezimpawu ezivame ukubonakala:

• Ubuhlungu ezandleni nasezinyaweni: Izandla nasezinyaweni zingase zizwe zingabandi, zithuntuthe, noma zishise. Lobuhlungu bungase bube bubi kakhulu ngezikhathi zokuzivocavoca.
• Ukuzwela ekushiseni: Ukungakwazi ukubekezelela ukushisa okukhulu noma ukubanda okukhulu.
• Ukujuluka okunciphile: Abanye abantu bajuluka kancane kakhulu (hypohidrosis) . Abanye abajuluki nhlobo (anhidrosis) .
• Izinguquko zesikhumba: Amabala amancane, aphakanyisiwe, abomvu noma ansomi avela ezindaweni ezifana nesifuba, umhlane, kanye nendawo yokuzala. Lawa abizwa ngokuthi i-angiokeratoma .
• Izinguquko zamehlo: Kuvela iphethini ekhethekile ku- cornea yeso. Lokhu kubizwa ngokuthi i-cornea verticillata . Kodwa-ke, lokhu akukuthinti ukubona nganoma iyiphi indlela. Udokotela kuphela ongakubona lokhu ngedivayisi ekhethekile (isibani esinqunyiwe).
• Izinkinga zesistimu yokugaya ukudla: Izinkinga ezifana nobuhlungu besisu, ukuqunjelwa, isifo sohudo, noma ukuqunjelwa zivame ukuba khona.
• Izimpawu ezivamile: Ukukhathala, isiyezi, umkhuhlane, kanye nobuhlungu bomzimba (njengomkhuhlane) kungase kwenzeke.
• Izinkinga zokuzwa: Ukulahlekelwa ukuzwa noma ukukhala ezindlebeni (i-tinnitus) kungase kwenzeke.
• Imiphumela ezinso: Amazinga andayo ephrotheni emchameni (i-proteinuria) .
• Ukuvuvukala: Imilenze, amaqakala, nezinyawo kuyavuvukala (i-edema) .

Yiziphi izinkinga eziyingozi ezingase zivele ngenxa yalesi sifo?

Eminyakeni eminingi, ukuqongelela kwala mafutha abizwa ngokuthi 'ama-sphingolipid' emzimbeni kungabangela umonakalo omkhulu emithanjeni yegazi nasezithweni zomzimba. Lokhu kungaholela ezinkingeni ezingaba yingozi ngisho nokuphila.

Izinkinga eziyinhloko yilezi:

• Isifo senhliziyo: Izimo ezifana nokushaya kwenhliziyo okungajwayelekile (i-arrhythmia) , ukuhlaselwa yinhliziyo, ukuvuvukala kwenhliziyo, kanye nokwehluleka kwenhliziyo .
• Ukwehluleka kwezinso: Ukulimala kwezinso kungaholela ekulahlekelweni ngokuphelele komsebenzi wazo.
• Izinkinga zemizwa: Ukulimala kwemizwa engaphandle (i-peripheral neuropathy) kungabangela ubuhlungu obukhulu kanye nokungazweli kahle ezithweni.
• Ukuhlaselwa yisifo sohlangothi: Ukuvaleka kwemithambo yegazi ebuchosheni kungabangela ukukhubazeka noma ukuhlaselwa yisifo sohlangothi okwesikhashana (TIA) .

Ungasithola kanjani lesi sifo? (Ukuxilongwa)

Uma udokotela wakho esola ukuthi unesifo sikaFabry, uzoyala ukuhlolwa okuningana ukuqinisekisa ukuthi unesifo.

• Ukuhlolwa kwe-enzyme:Lokhu ukuhlolwa kwegazi. Lokhu kulinganisa izinga le-enzyme ethi `alpha-GAL` egazini lakho. Uma leli zinga lingaphansi kuka-1%, kusolwa ukuthi lesi sifo sikhona. Kodwa-ke, lokhu kuhlolwa kuthembekile kwabesilisa kuphela. Lokhu akufanele abesifazane, njengoba amazinga abo e-enzyme angaguquguquka ngezikhathi ezijwayelekile.
• Ukuhlolwa kwezakhi zofuzo: Lena yindlela engcono kakhulu yokuqinisekisa lesi sifo. Ubuchwepheshe bokulandelana kwe-DNA bungabona ngokunembile ukuthi kukhona yini ukuguquka, noma iphutha, ku-gene ye-GLA , efundisa ukukhiqizwa kwe-enzyme ethi `alpha-GAL`.
• Ukuhlolwa kwezinsana: Kwamanye amazwe, izinsana ezisanda kuzalwa ziyahlolwa lezi zifo.

Yiziphi izindlela zokwelapha isifo sikaFabry?

Akukho ukwelashwa kwesifo sikaFabry. Kodwa-ke, kunezindlela zokwelapha ezisebenzayo ezingasiza ekulawuleni izimpawu futhi zinciphise ukunqwabelana kwamafutha ayingozi emzimbeni. Umgomo oyinhloko walezi zindlela zokwelapha ukuvimbela isifo senhliziyo, isifo sezinso, nezinye izinkinga ezinkulu.

Ngaphezu kwalezi zindlela zokwelapha eziyinhloko, kunikezwa imithi ehlukile yobuhlungu nezinkinga zesisu. Ososayensi bathuthukisa nezindlela zokwelapha ezintsha besebenzisa ubuchwepheshe bobunjiniyela bezakhi zofuzo.

Impilo izoba njani ngalesi sifo? (I-Outlook)

Isifo sikaFabry siyisifo esiqhubekayo. Lokhu kusho ukuthi ingozi yezimpawu nezinkinga iyanda njengoba iminyaka ikhula. Lesi sifo singanciphisa isikhathi sokuphila. Ngokwesilinganiso, amadoda anesimo esivamile aphila aze afike eminyakeni yawo yokugcina engama-50 kanti abesifazane baphila aze afike eminyakeni yawo-70.

Kodwa into ebaluleke kakhulu ukuthi ngokuthola ukwelashwa okufanele, ikakhulukazi ngokunakekela impilo yenhliziyo nezinso, ungangeza iminyaka eminingi empilweni yakho.

Ingabe lesi sifo singavinjelwa ukuthi singasabalali emalungwini omndeni?

Njengoba lesi kuyisifo sofuzo, uma othile emndenini wakho enokuguqulwa kwezakhi zofuzo okuhlobene nalesi sifo, kunengozi yokuthi izingane zakho zizosizuza njengefa. Ngakho-ke, uma wena noma othile emndenini wakho enalesi sifo, kubaluleke kakhulu ukuhlangana nokukhuluma nomeluleki wezakhi zofuzo .

Uchwepheshe onjalo angachaza amathuba okuthi izingane zakho zizozuza ifa lofuzo. Bangakhuluma nangezinketho ezitholakalayo kuwe uma uhlela ukuba nezingane. Isibonelo, kunenqubo ebizwa ngokuthi i-Preimplantation Genetic Diagnosis (PGD) . Le nqubo ihlola ama-embryo ngaphambi kokuba adluliselwe kumama ngesikhathi se -In Vitro Fertilization (IVF) ukuze kukhethwe ama-embryo anempilo angenayo i-gene enephutha.

Uma kufanele ubonane nodokotela ngokushesha

Uma utholakale unesifo sikaFabry futhi uhlangabezana nanoma yiziphi izimpawu ezilandelayo, bona udokotela wakho ngokushesha noma uye eMnyangweni Wezimo Eziphuthumayo (ETU) wesibhedlela esiseduze.

• Ubuhlungu besifuba, ukushaya kwenhliziyo okungajwayelekile, ubunzima bokuphefumula (lokhu kungaba izimpawu zokuhlaselwa yinhliziyo).
• Ukuvuvukala ngokweqile noma ukugcinwa koketshezi emzimbeni.
• Isiyezi esikhulu, izinkinga zokubona, izinguquko ekukhulumeni (lokhu kungaba izimpawu zokuhlaselwa yisifo sohlangothi).
• Ukulahlekelwa ukuzwa ngokuzumayo.
• Ubuhlungu obukhulu esiswini noma isifo sohudo.

Imibuzo ebalulekile okufanele uyibuze udokotela wakho

Uma utholakale unalesi sifo, kuvamile ukuba nemibuzo eminingi. Ungakhohlwa ukubuza le mibuzo uma ubona udokotela wakho.

• Ngithole kanjani isifo sikaFabry?
• Uhlobo luni lwesifo se-Fabry enginalo?
• Yikuphi ukwelashwa okungcono kakhulu kimi?
• Ziyini izingozi nemiphumela emibi yalezo zindlela zokwelapha?
• Ingabe umndeni wami usengozini yokuthola lesi sifo? Ingabe kufanele sihlolelwe izakhi zofuzo?
• Yikuphi ukwelashwa nokuhlolwa okufanele ngiqhubeke ngikuthola?
• Yiziphi izimpawu zezinkinga okufanele ngikhathazeke ngazo kakhulu?

Kuvamile ukuzizwa udabuke futhi ukhathazekile uma utholakala unesifo sikaFabry. Ungase ukhathazeke ngekusasa kanye nezingane zakho. Kodwa khumbula, manje kunezindlela zokwelapha eziphumelela kakhulu zokuphatha lesi sifo. Futhi kunocwaningo oluningi oluqhubekayo olusinika ithemba ngekusasa. Ngokulandela uhlelo lwakho lokwelashwa eduze kanye nokusebenzisana eduze nodokotela wakho, ungaphatha izimpawu zakho, uvimbele umonakalo wesikhathi eside, futhi uphile impilo ephumelelayo.