Ngaba ngamanye amaxesha ukhe uve iintlungu ezinganyamezelekiyo kunye nokudumba ezandleni nasezinyaweni zakho, kunye namabala amancinci abomvu emzimbeni wakho? Xa ngequbuliso ubona iimpawu ezibonakala zingahambelani, kunokuba yingxaki enkulu. Namhlanje sithetha ngemeko enokubangela iimpawu ezifanayo, kodwa abantu abaninzi kwilizwe lethu abakayiva loo nto. YiFabry Disease leyo.
Ngamafutshane, yintoni iFabry Disease?
Isifo sikaFabry sisifo semfuza esifunyanwa kwiijini zethu. Asinto ingaqhelekanga. Umntu onesi sifo unamafutha amaninzi aqokelelene kwiiseli zomzimba wakhe. Khawucinge ukuba bekuya kwenzeka ntoni ukuba umqokeleli wenkunkuma ebengezi endlwini yethu kangangeentsuku ezimbalwa? Inkunkuma iqokelelana endlwini yethu, akunjalo? Yiyo loo nto. Kwesi sifo, i-enzyme eqhekezayo nesusa la mafutha kwiiseli zethu ayiveliswa emzimbeni, okanye ayisebenzi kakuhle.
Xa amafutha eqokelelana ngale ndlela, imithambo yegazi yethu iqala ukucutheka. Oku kunokubangela umonakalo kulusu, kwizintso, entliziyweni, engqondweni, nakwinkqubo yemithambo-luvo . Oogqirha bakwabiza oku ngokuthi "yingxaki yokugcina izinto." Ezi mpawu zihlala ziqala ebuntwaneni. Kwaye zixhaphake kakhulu kumadoda kunakwabasetyhini.
Ungakhathazeki. Nangona kungekho nyango loku, kukho unyango olufanelekileyo olufumanekayo namhlanje olunokukunceda ulawule iimpawu zakho kwaye uphile ubomi obuqhelekileyo.
Yintoni ebangela isifo sikaFabry?
Esi sisifo esibangelwa lufuzo ngokupheleleyo. Oko kuthetha ukuba yinto oyizuz’ ilifa kumama okanye kutata wakho. Sidinga i-enzyme ebizwa ngokuba yi -alpha-galactosidase A ukuze siqhekeze izinto ezifana neeoyile, iiwax, kunye nee-fatty acids emizimbeni yethu. Umntu onesifo sikaFabry akanayo le enzyme, okanye ukuba unayo, ayisebenzi kakuhle. Ngoko ke, njengoko benditshilo ngaphambili, olu hlobo lwamafutha luqala ukuqokelelana ngaphakathi kwiiseli.
Zithini iimpawu zesi sifo?
Iimpawu zesifo sikaFabry zingahluka kumntu nomntu. Abanye abantu bachaphazeleka kakhulu zezi mpawu, ngelixa abanye bengachaphazeleki kangako. Makhe sijonge iimpawu eziphambili ezinokubonwa.
| Uphawu | Inkcazo |
|---|---|
| Intlungu kunye nokudumba kwamalungu | Le ntlungu iyanda xa uzilolonga, xa unomkhuhlane, xa ushushu kakhulu, okanye xa udiniwe. |
| Amabala esikhumba | Amabala amancinci, abomvu okanye amfusa abonakala kakhulu kwindawo ephakathi kweempundu namadolo. |
| Ukukhubazeka kokubona | Iimeko ezinje ngokubona okufipheleyo okanye ukurhawuzelelwa yi-cataract. |
| Ubunzima bokuva | Ukulahlekelwa kukuva okanye "ukukhala" rhoqo ezindlebeni. |
| Ukuncipha kokubila | Ukubila okungaphantsi komntu oqhelekileyo kuyabila. |
| Iingxaki zenkqubo yokugaya ukutya | Intlungu yesisu kunye nesidingo sokukhupha indle kwangoko emva kokutya. |
Iingxaki ezinzulu
Isifo sikaFabry sinokubangela iingxaki ezinkulu ngakumbi ngokuhamba kwexesha. Lo mngcipheko uphezulu kakhulu kumadoda. Nangona kunjalo, abafazi abane-gene yesi sifo (abathwali) nabo banokuba neempawu. Ke ngoko, kubaluleke kakhulu ukuba abafazi baqaphele esi sifo kwaye bafumane iingcebiso zonyango rhoqo.
- Umngcipheko okhulayo wokuhlaselwa yintliziyo okanye isifo sohlangothi .
- Ukonakala okukhulu kwezintso kunye nokungasebenzi kakuhle kwezintso.
- Igazi elonyukayo.
- Ukungaphumeleli kwentliziyo kunye nokwanda kwentliziyo.
- Ukuncitshiswa kwamathambo (i-Osteoporosis).
Indlela yokuxilonga ngokuchanekileyo esi sifo?
Inyaniso kukuba, ngamanye amaxesha kungathatha ixesha elide ukufumanisa isifo sikaFabry. Isizathu kukuba iimpawu ziyafana nezezinye izifo ezininzi. Ngenxa yoko, abanye abantu abaqondi ukuba banesifo sikaFabry de kube yiminyaka emva kokuba iimpawu ziqalile. Ngeli xesha, basenokuba baye babona oogqirha abahlukeneyo befumana iimpawu ezahlukeneyo, kwaye ngamanye amaxesha bafumana nokuxilongwa okungachanekanga.
Ukuba kukho umntu kusapho lwakho oye waba nezi mpawu kwaye ucinga ukuba usemngciphekweni, kulungile ukuthetha nogqirha wakho malunga novavanyo lwemfuza .
Xa usiya kugqirha, uza kukuxilonga aze akubuze imibuzo efana nale:
- Uziva njani?
- Zithini iimpawu zakho?
- Ziqale nini ezi zinto?
- Ngaba kukho umntu kusapho lwakho onayo nayiphi na kwezi meko?
Ngokusekelwe kolu lwazi, ukuba ugqirha ukrokrela ukuba esi sisifo sikaFabry, uza kukucela ukuba uhlolwe igazi (ukujonga inqanaba le-enzyme ye-alpha-galactosidase A endikhankanyileyo) okanye uvavanyo lwe-DNA .
Iphathwa njani?
Kukho iindlela ezimbini eziphambili zonyango lwesifo sikaFabry.
1. Unyango Lokutshintshwa Kwe-Enzyme (ERT): Le yindlela esetyenziswa kakhulu. Oku kuquka ukunika umzimba i-enzyme engekhoyo okanye engasebenzi kakuhle ngesisombululo se-saline. Oku kudla ngokwenziwa esibhedlele okanye ekliniki malunga neveki ezimbini. Olu nyango luyayekisa ukuqokelelwa kwamafutha emzimbeni kwaye lulawula iintlungu kunye nezinye iimpawu.
2. I-Migalastat (iGalafold): Eli liyeza elitsha elinokusetyenziswa njengepilisi. Lisebenza ngokuqinisa i-enzyme engasebenzi kakuhle nokuphucula ukusebenza kwayo.
Ukongeza kwezi ndlela zonyango ziphambili, ugqirha wakho unokucebisa ezinye iindlela zonyango ngokuxhomekeke kwiimpawu zakho.
- Izithomalalisi zentlungu ezibangelwa kukonakala kwemithambo-luvo.
- Amayeza eengxaki zesisu.
- Izinto zokunciphisa igazi ukuze kuthintelwe ukuqhekeka kwegazi.
- Amayeza oxinzelelo lwegazi oluphezulu kunye nokukhusela izintso.
Ukuba isifo sonakalise kakhulu izintso, i-dialysis okanye ukufakelwa izintso kungafuneka.
Uvavanyo olujonga imeko yakho
Ngexesha lonyango, ugqirha wakho uya kwenza iimvavanyo ezahlukeneyo rhoqo ukujonga imeko yakho.
| Uvavanyo | Ingcaciso elula |
|---|---|
| I-EKG (i-Electrocardiogram) | Ukulinganisa umsebenzi wombane wentliziyo, ukujonga isantya sentliziyo kunye nesingqisho. |
| I-Echocardiogram | I-ultrasound scan yentliziyo. Oku kulinganisa impilo kunye nokusebenza kwamalungu entliziyo. |
| I-MRI yobuchopho | Ukufumana imifanekiso eneenkcukacha zobuchopho kunye nezinye izitho zomzimba. |
| Iskeni ye-CT | Ukuthatha imifanekiso eneenkcukacha zangaphakathi lomzimba kusetyenziswa ii-X-ray. |
| Ezinye iimvavanyo | Uvavanyo lwegazi, umchamo, uvavanyo lwe-thyroid, uvavanyo lokuva nolokubona, uvavanyo lokusebenza kwemiphunga. |
Umyalezo Wokuya Ekhaya
- Isifo sikaFabry sisifo esidluliselwa ngemfuza, esidluliselwa kwimfuza. Asisuleli.
- Iimpawu ezininzi ezingadibaniyo zinokwenzeka kunye, njengentlungu eqatha emalungeni, amabala abomvu eluswini, kunye nokuncipha kokubila.
- Kungathatha ixesha ukufumanisa isifo, kodwa uvavanyo lwegazi nolwe-DNA lunokuqinisekisa ngokuqinisekileyo ukuba sisifo.
- Nangona esi sifo singenakunyangwa ngokupheleleyo, ngoku kukho unyango olusebenzayo (olufana ne-ERT) olunokulawula iimpawu, luthintele iingxaki ezinzulu, kwaye luncede abantu baphile ubomi obuqhelekileyo.
- Ungaze ulutyeshele unyango kunye novavanyo olunikwa ngugqirha wakho. Ukulandela imiyalelo kagqirha wakho rhoqo kubaluleke kakhulu kwimpilo yakho yexesha elizayo.
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