Ngaba uziva ngathi amalungu akho ayatsha okanye ayarhawuzelela? Ngaba ngamanye amaxesha uziva udiniwe kakhulu nasemva kokwenza imisebenzi emincinci? Nangona ezi zinto zinokubonakala ngathi zizinto eziqhelekileyo, ngamanye amaxesha kunokubakho imeko engaqhelekanga yemfuza emva koku, njengesifo sikaFabry. Usenokuba awukaze uve ngeli gama. Kodwa kubaluleke kakhulu ukwazi ngalo. Masithethe ngalo namhlanje.
Ngamafutshane, yintoni iFabry Disease?
Isifo sikaFabry sisifo semfuza esifumaneka kwiintsapho zethu. Sinqabile kakhulu. Ngamafutshane, umntu onesi sifo akavelisi i-enzyme ebizwa ngokuba yi-alpha-galactosidase A (igama elifutshane elithi alpha-GAL) ngokufanelekileyo.
Ngoku usenokuba uyazibuza ukuba yintoni le enzyme. I-enzyme luhlobo lweproteni enceda kwiinkqubo ezahlukeneyo zeekhemikhali emzimbeni wethu. Umsebenzi ophambili wale enzyme ye-alpha-GAL kukuqhekeza uhlobo lwamafutha olubizwa ngokuba yi-sphingolipids emzimbeni wethu, oko kukuthi, ukuwagaya nokuwasusa emzimbeni.
Khawucinge nje, kwenzeka ntoni ukuba umqokeleli wenkunkuma akafiki endlwini yethu kangangeentsuku? Inkunkuma iqokelelana kuyo yonke indlu, akunjalo? Yiyo loo nto. Xa i-enzyme ye-alpha-GAL ingekho, uhlobo lwamafutha olubizwa ngokuba yi-sphingolipids luqala ukuqokelelana kwimithambo yegazi nakwizicubu zethu. Olu qokelelo lunokonakalisa intliziyo yethu, izintso, ubuchopho, inkqubo yemithambo-luvo kunye nolusu. Oku kukweqela lezifo ezibizwa ngokuba yi-lysosomal storage disorders.
Ziziphi iintlobo eziphambili zesi sifo?
Isifo seFabry sinokwahlulwa sibe ziintlobo ezimbini eziphambili, kuxhomekeke kwiminyaka apho iimpawu ziqala ukubonakala khona.
| Uhlobo lwesifo (Uhlobo) | Inkcazo |
|---|---|
| Uhlobo lweklasikhi | Kolu hlobo, iimpawu ziqala ebuntwaneni okanye ebusheni. Ngamanye amaxesha, iimpawu ezifana nokudumba kwezandla neenyawo zinokuqala kwasekuqaleni kweminyaka emi-2 ubudala. Iimpawu ziya zisiba mandundu kancinci kancinci ngokuhamba kwexesha. |
| Uhlobo lokuqalisa emva kwexesha/olungaqhelekanga | Abantu abalolu hlobo basenokungabi nazimpawu de babe neminyaka engama-30 okanye ngaphezulu. Ngamanye amaxesha esi sifo siqala ukufunyanwa emva kokuba kukho imeko embi, efana nokungasebenzi kakuhle kwezintso okanye isifo sentliziyo. |
Isifo sikaFabry sikhula njani? Ngaba sidluliselwa kwilifa?
Ewe, esi sisifo esizuzwe njengelifa ngokupheleleyo. Iijini zethu zifumaneka kwizinto ezibizwa ngokuba zii-chromosomes. Ijini enesiphene ebangela esi sifo ifumaneka kwi-chromosome X.
Abafazi bane-chromosomes ezimbini ze-X (XX) ngelixa amadoda ene-chromosome enye ye-X kunye ne-chromosome enye ye-Y (XY). Lo mahluko ukwachaphazela nendlela esi sifo esidluliselwa ngayo kwisizukulwana ukuya kwesinye.
Masiqonde ngokulula:
- Ukuba utata unesifo sikaFabry:
- Zonke iintombi zakhe zizuza ilifa le chromosome X enesiphene. Oku kuthetha ukuba zonke iintombi zakhe zinokuba nesi sifo.
- Kodwa ngenxa yokuba oonyana bazuza i-chromosome Y kooyise, oonyana abazuzi esi sifo kooyise.
- Ukuba umama unesifo sikaFabry:
- Ngenxa yokuba umama unee-chromosomes ezimbini ze-X, ngamnye kubantwana bakhe (nokuba yintombi okanye unyana) unethuba elingama-50% lokufumana i-chromosome ye-X enesiphene. Oku kuthetha ukuba abanye abantwana banokuba nesi sifo, kwaye abanye basenokungabi naso.
Zithini iimpawu zesifo sikaFabry?
Iimpawu zingahluka kumntu nomntu. Amadoda adla ngokuba neempawu eziqatha kakhulu kunabafazi. Abanye abafazi banokuba neempawu ezibuthathaka kakhulu okanye bangabi nazo kwaphela.
Ezi ziimpawu eziqhelekileyo:
- Ukuba ndindisholo, ukurhawuzelela, okanye intlungu eqatha ezandleni nasezinyaweni .
- Intlungu egqithisileyo ngexesha lokuzilolonga okanye umsebenzi womzimba.
- Ukunganyamezelani nokubanda okanye ubushushu.
- Ukuncipha kokubila (hypohidrosis) okanye ukungabikho kokubila konke konke (anhidrosis).
- Iingxaki zesisu ezifana neentlungu zesisu, urhudo, kunye nokuqhina kwesisu.
- Isiyezi.
- Iimpawu ezifana nezo zomkhuhlane, ezinje ngomkhuhlane, iintlungu zomzimba, kunye nokudinwa.
- Ukulahlekelwa kukuva okanye ukukhala kweendlebe (i-tinnitus).
- Amaqhuma amancinci abomvu-mfusa (i-angiokeratomas) avela kulusu lwesifuba, umqolo, kunye nendawo yangasese.
- Ukudumba (ukudumba) kwemilenze, amaqatha, neenyawo.
- Ukwanda kwamanqanaba eeprotheyini kumchamo (proteinuria).
- Ipateni ekhethekileyo (i-cornea verticillata) ikhula ngaphakathi kweliso. Oku akuchaphazeli umbono. Ingabonakala kuphela ngovavanyo lwamehlo olukhethekileyo (uvavanyo lwesibane esiqhekekileyo).
Iingxaki eziyingozi ezinokwenzeka ngenxa yesi sifo
Olu hlobo lwamafutha (ii-sphingolipids) lunokuqokelelwa emzimbeni kangangeminyaka emininzi kwaye lunokonakalisa amalungu ethu aphambili. Oku kunokukhokelela kwiingxaki ezinokuba yingozi nakubomi.
- Isifo sentliziyo: ukubetha kwentliziyo okungahambelaniyo (arrhythmia), ukuhlaselwa yintliziyo, ukwanda kwentliziyo, kunye nokungasebenzi kakuhle kwentliziyo.
- Ukungasebenzi kakuhle kwezintso: Ekuhambeni kwexesha, i-dialysis okanye ukufakelwa kwezintso kunokufuneka.
- Istroke: Istroke okanye uhlaselo lwe-ischemic oludlulayo (TIA) lunokwenzeka ngenxa yokuvaleka kwemithambo yegazi eya engqondweni.
- Ukonakala kwemithambo-luvo (i-peripheral neuropathy).
Indlela yokuxilonga esi sifo?
Ukuba uneempawu ezinje, ugqirha wakho unokurhanela esi sifo aze akuthumelele uvavanyo oluninzi.
| Uvavanyo | Inkcazo |
|---|---|
| Uvavanyo lwe-enzyme | Olu luvavanyo lwegazi. Lulinganisa umsebenzi we-enzyme ye-alpha-GAL egazini lakho. Olu vavanyo luchanekile kakhulu kumadoda, kodwa aluchanekanga kangako kubafazi. |
| Uvavanyo lwemfuza | Olu lolona vavanyo lucacileyo. Uvavanyo lwe-DNA lunokuqinisekisa ukuba kukho utshintsho kwi-gene ye-GLA ebangela esi sifo. |
Zithini iindlela zonyango?
Akukho nyango lwesifo sikaFabry okwangoku. Kodwa ungalilahli ithemba. Ngoku kukho unyango olusebenzayo kakhulu olunokulawula iimpawu, lunciphise ukuqokelelwa kwamafutha emzimbeni, kwaye luthintele iingxaki ezinkulu.
Kukho iindlela ezimbini eziphambili zonyango:
1. Unyango Lokutshintshwa Kwe-Enzyme (ERT)
Oku kuquka ukukunika inguqulelo ye-alpha-GAL enzyme eyenziwe elebhu, engaveli ngumzimba wakho. Eli yeza linikwa njenge-IV infusion, njenge-saline, rhoqo kwiiveki ezimbini.Olu nyango luyayekisa ukuqokelelwa kwamafutha emzimbeni.
2. Unyango lwe-Oral Chaperone
Le yipilisi oyithathayo. Eli yeza lisebenza ngokulungisa i-enzyme ye-alpha-GAL engalunganga emzimbeni wakho kwaye liyenze isebenze kwakhona. Nangona kunjalo, olu nyango alusebenzi kuwo wonke umntu. Kuxhomekeke kuhlobo lotshintsho lwemfuza yakho. Ugqirha wakho uya kugqiba ukuba oku kulungile na kuwe.
Ukongeza kwezi ndlela zonyango ziphambili, amayeza ahlukeneyo anokunikwa iintlungu, isisu esibuhlungu, kunye nezinye iimpawu.
Ufanele uye nini kugqirha?
Ukuba ufunyaniswe unesifo sikaFabry, kufuneka uqhagamshelane nogqirha wakho ngoko nangoko ukuba ufumana naziphi na kwezi mpawu zilandelayo:
- Iimpawu zokuhlaselwa yintliziyo ezifana neentlungu zesifuba, ukuphefumla kancinci, kunye nokubetha kwentliziyo okungahambelaniyo (ukuba oku kuyenzeka, yiya kwiSebe lezeMpilo eziNgxamisekileyo (ETU) lesibhedlele ngoko nangoko).
- Ukudumba okugqithisileyo.
- Iimpawu zokukhubazeka ezifana nesiyezi esigqithisileyo, utshintsho embonweni, kunye nobunzima bokuthetha (yiya kwi-ETU ngoko nangoko kule meko).
- Ukulahlekelwa kukuva ngequbuliso.
- Intlungu ebuhlungu yesisu okanye ukudumba.
Kuqhelekile ukuba uzive usoyika kwaye uxhalabile xa ufunyaniswa ukuba unesifo sikaFabry. Usenokuba neenkxalabo malunga nekamva lakho kunye nabantwana bakho. Nangona kunjalo, unyango olusebenzayo ngoku luyafumaneka kwaye uphando olutsha lusemnyango. Ngokulandela isicwangciso sakho sonyango ngokusondeleyo kunye nokusebenzisana ngokusondeleyo nogqirha wakho, unokulawula iimpawu zakho kwaye uthintele umonakalo wexesha elide.
Umyalezo Wokuya Ekhaya
- Isifo sikaFabry sisifo esingaqhelekanga esibangelwa yimfuza (esizuzwe njengelifa).
- Ukuqokelelwa kwamafutha emzimbeni kungonakalisa amalungu omzimba afana nentliziyo, izintso kunye nengqondo.
- Iimpawu ezinje ngokutsha kwamalungu omzimba, ukudinwa kakhulu, ukurhawuzelela kwesikhumba, kunye nokungabila zezona ziphambili.
- Nangona kungekho nyango lupheleleyo loku, unyango lwee-enzyme kunye namanye amayeza anokulawula esi sifo kwaye andise ubomi.
- Ukuba wena okanye umntu osapho lwakho unezi mpawu, kubaluleke kakhulu ukufuna ingcebiso kagqirha ngokukhawuleza.
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