Yintoni iFabry Disease? Masifunde ngale meko ingaqhelekanga ngamazwi alula

Ngaba ngamanye amaxesha ufumana iimvakalelo zokutsha ezinganyamezelekiyo ezintendeni nasezinyaweni zakho ngaphandle kwesizathu? Okanye uzive udiniwe kakhulu kwaye ungabila, kwaye unamabala amancinci abomvu eluswini lwakho? Usenokucinga ukuba ezi zizinto eziqhelekileyo. Kodwa ezi zinokuba ziimpawu zesifo esingaqhelekanga semfuza esibizwa ngokuba yiFabry Disease , esingazivanga kangako ngaso. Ungakhathazeki, siza kuthetha ngokuba lithini eli gama, kutheni le nto senzeka, zithini iimpawu, kwaye ingaba kukho unyango, kweli nqaku namhlanje.

Yintoni kanye kanye iFabry Disease?

Ngamafutshane, isifo sikaFabry sisifo esibangelwa sisiphene semfuza emzimbeni wethu. Okwenzekayo kukuba ukuveliswa kwe-enzyme ebalulekileyo emzimbeni wethu kunciphile okanye akukho kwaphela. Igama lale enzyme yi -alpha-galactosidase A , okanye `(alpha-GAL)` ngamafutshane.

Khawucinge nje ukuba imizimba yethu inenkqubo efana nenkampani yokulahla inkunkuma. Le enzyme ebizwa ngokuba yi-'alpha-GAL' ngumsebenzi okrelekrele kakhulu kuloo nkampani. Umsebenzi wayo kukucoca nokuqhekeza ii-sphingolipids ngokufanelekileyo, uhlobo lwamafutha (ngokuthe ngqo, into efana namafutha) eveliswa ngaphakathi kwiiseli zethu.

Ngoku, emzimbeni womntu onesifo sikaFabry, lo msebenzi ukrelekrele, i-enzyme ethi `alpha-GAL`, ayanelanga. Kwenzeka ntoni ke ngoko? La mafutha afana nenkunkuma abizwa ngokuba yi-`sphingolipids` aqala ukuqokelelana emzimbeni. Njengenqwaba yenkunkuma eqokelelana endlwini ukuba inkunkuma ayisuswa. Olu hlobo lwamafutha luqokelelana kakhulu kwimithambo yegazi yethu, entliziyweni, kwizintso, ebuchotsheni, kwinkqubo yemithambo-luvo nakwisikhumba. Xa amafutha eqokelelana ngolu hlobo ngokuhamba kwexesha, loo malungu aqala ukonakala. 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.

Ingaba esi sifo sixhaphakile? Ngubani osifumanayo?

Isifo sikaFabry sisifo esingaqhelekanga. Ngokwezibalo, uhlobo oluqhelekileyo lwenzeka kwindoda enye kwi-40,000. Nangona kunjalo, uhlobo lokuqalisa emva kwexesha luqheleke kancinci. Lunokuchaphazela phakathi kwendoda enye kwi-1,500 kunye ne-4,000.

Kunzima ukutsho ukuba esi sifo sixhaphake kangakanani phakathi kwabasetyhini, njengoko abanye abafazi bengenazo iimpawu konke konke, okanye ezingabonakaliyo kuphela, ngoko ke baphila ngaphandle kokufunyanwa ukuba banesi sifo.

Le yindlela eyenzeka ngayo kwizizukulwana ngezizukulwana.

Esi sisifo semfuza, oko kuthetha ukuba sidluliselwa kubazali ukuya ebantwaneni. I-gene enesiphene ebangela oku ikwi -chromosome yethu eyi-X . Makhe sibone ukuba oku kwenzeka njani kwiintsapho.

• Ukuba utata unesifo: Utata onesifo sikaFabry udlulisela i-chromosome yakhe ye-X kuzo zonke iintombi zakhe . Oku kuthetha ukuba zonke iintombi zakhe ziya kufumana i-gene mutation yesi sifo. Kodwa oonyana abakho semngciphekweni . Oku kungenxa yokuba oonyana bafumana i-chromosome ye-Y kuyise, kungekhona kwi-chromosome ye-X.
• Ukuba umama unesifo: Umama onesifo sikaFabry unethuba elingama-50% lokudlulisela i-chromosome X enesiphene kubantwana bakhe bonke (nokuba yintombi okanye unyana) . Kufana nokuphosa ingqekembe yemali. Omnye umntwana usenokusifumana esi sifo, omnye angasifumani.

Zithini iimpawu zesifo sikaFabry?

Iimpawu zingahluka kakhulu kumntu nomntu. Abanye abantu baneempawu ezibuthathaka kakhulu, ngelixa abanye benokuba neempawu eziqatha. Amadoda ngokubanzi aneempawu eziqatha ngakumbi kunabafazi.

Nazi ezinye zeempawu ezibonakala rhoqo:

• Intlungu ezandleni nasezinyaweni: Izandla nasezinyaweni zinokuziva ngathi azinamsebenzi, ziyarhawuzelela, okanye ziyatsha. Le ntlungu inokuba mandundu ngexesha lokuzilolonga.
• Uvakalelo kubushushu: Ukungakwazi ukunyamezela ubushushu obugqithisileyo okanye ukubanda kakhulu.
• Ukuncipha kokubila: Abanye abantu babila kancinci kakhulu (hypohidrosis) . Abanye ababila kwaphela (anhidrosis) .
• Utshintsho lolusu: Amabala amancinci, aphakanyisiweyo, abomvu okanye amfusa avela kwiindawo ezifana nesifuba, umqolo, kunye nendawo yangasese. Ezi zibizwa ngokuba yi -angiokeratoma .
• Utshintsho lwamehlo: Kukho ipateni ekhethekileyo ekhula kwi- cornea yeliso. Oku kubizwa ngokuba yi -cornea verticillata . Nangona kunjalo, oku akuchaphazeli umbono nangayiphi na indlela. Ngugqirha kuphela onokukubona oku ngesixhobo esikhethekileyo (isibane esitshixwayo).
• Iingxaki zenkqubo yokugaya ukutya: Iingxaki ezifana neentlungu zesisu, ukudumba, urhudo, okanye ukuqhina kwesisu zihlala zisenzeka.
• Iimpawu eziqhelekileyo: Ukudinwa, isiyezi, umkhuhlane, kunye neentlungu zomzimba (ezifana nomkhuhlane) zinokwenzeka.
• Iingxaki zokuva: Ukulahlekelwa kukuva okanye ukukhala kweendlebe (i-tinnitus) kunokwenzeka.
• Iziphumo kwizintso: Ukwanda kwamanqanaba eeprotheyini kumchamo (proteinuria) .
• Ukudumba: Imilenze, amaqatha, kunye neenyawo ziyadumba (i-edema) .

Ziziphi iingxaki ezinobungozi ezinokubakho ngenxa yesi sifo?

Kwiminyaka emininzi, ukuqokelelwa kwala mafutha abizwa ngokuba yi-'sphingolipids' emzimbeni kunokubangela umonakalo omkhulu kwimithambo yegazi kunye namalungu omzimba. Oku kunokukhokelela kwiingxaki ezinokuba yingozi nakubomi.

Iingxaki eziphambili zezi:

• Isifo sentliziyo: Iimeko ezifana nokubetha kwentliziyo okungahambelaniyo (i-arrhythmia) , ukuhlaselwa yintliziyo, ukwanda kwentliziyo, kunye nokungasebenzi kakuhle kwentliziyo .
• Ukungasebenzi kakuhle kwezintso: Ukonakala kwezintso kunokukhokelela ekulahlekelweni ngokupheleleyo komsebenzi wazo.
• Iingxaki zemithambo-luvo: Ukonakala kwemithambo-luvo engaphandle (i-peripheral neuropathy) kunokubangela iintlungu ezingakumbi kunye nokungaziva mnandi kwamalungu omzimba.
• Ukubetheka: Ukuvaleka kwemithambo yegazi ebuchotsheni kunokubangela ukukhubazeka okanye ukuhlaselwa yi-ischemic okuhamba kancinci (TIA) .

Ungasixilonga njani esi sifo? (Ukuxilongwa)

Ukuba ugqirha wakho urhanela ukuba unesifo sikaFabry, uya kuyalela iimvavanyo ezininzi ukuqinisekisa ukuba unesifo eso.

• Uvavanyo lwe-enzyme:Olu luvavanyo lwegazi. Olu lulinganisa inqanaba le-enzyme ethi `alpha-GAL` egazini lakho. Ukuba eli nqanaba lingaphantsi kwe-1%, kurhanelwa ukuba esi sifo sikhona. Nangona kunjalo, olu vavanyo lunokuthenjwa kuphela kumadoda. Oku akufanelekanga kubafazi, njengoko amanqanaba abo e-enzyme anokutshintshatshintsha ngamaxesha aqhelekileyo.
• Uvavanyo lwemfuza: Le yeyona ndlela ilungileyo yokuqinisekisa isifo. Itekhnoloji yokulandelelanisa i-DNA inokufumanisa ngokuchanekileyo ukuba kukho utshintsho, okanye isiphene, kwi-gene ye-GLA , eyalela ukuveliswa kwe-enzyme ethi `alpha-GAL`.
• Ukuhlolwa kweentsana ezisandul’ ukuzalwa: Kwamanye amazwe, iintsana ezisandul’ ukuzalwa ziyahlolwa ezi zifo.

Ziziphi iindlela zonyango zesifo sikaFabry?

Akukho nyango lwesifo sikaFabry. Nangona kunjalo, kukho unyango olusebenzayo olunokunceda ukulawula iimpawu kunye nokucothisa ukuqokelelana kwamafutha ayingozi emzimbeni. Injongo ephambili yale nyango kukuthintela isifo sentliziyo, isifo sezintso, kunye nezinye iingxaki ezinzulu.

Ukongeza kwezi ndlela zonyango ziphambili, kunikwa amayeza ahlukeneyo eentlungu neengxaki zesisu. Izazinzulu zikwaphuhlisa unyango olutsha zisebenzisa iteknoloji yobunjineli bemfuza.

Buza kuba njani ubomi ngesi sifo? (Imbono)

Isifo sikaFabry sisifo esiqhubekayo. Oku kuthetha ukuba umngcipheko weempawu kunye neengxaki uyanda ngokuhamba kweminyaka. Esi sifo sinokunciphisa ixesha lokuphila. Ngokomyinge, amadoda anesimo esiqhelekileyo aphila ade afikelele kwiminyaka yawo yokugqibela yama-50 kwaye abafazi bade bafikelele kwiminyaka yabo yama-70.

Kodwa eyona nto ibalulekileyo kukuba ngokufumana unyango olufanelekileyo, ingakumbi ngokunyamekela impilo yentliziyo kunye nezintso, ungongeza iminyaka emininzi ebomini bakho.

Ngaba esi sifo singathintelwa ukuba singasasazeki kumalungu osapho?

Ekubeni esi sisifo semfuza, ukuba umntu kusapho lwakho une-gene mutation enxulumene nesi sifo, kukho umngcipheko wokuba abantwana bakho baza kusifumana njengelifa. Ke ngoko, ukuba wena okanye umntu kusapho lwakho unesi sifo, kubaluleke kakhulu ukudibana nokuthetha nomcebisi wemfuza .

Ingcali enjalo ingachaza amathuba okuba abantwana bakho bafumane ilifa le-gene. Bangathetha nangeendlela onokukhetha kuzo ukuba uceba ukuba nabantwana. Umzekelo, kukho inkqubo ebizwa ngokuba yi -Preimplantation Genetic Diagnosis (PGD) . Le nkqubo ivavanya ii-embryos ngaphambi kokuba zidluliselwe kumama ngexesha le -In Vitro Fertilization (IVF) ukuze kukhethwe ii-embryos eziphilileyo ezingenayo i-gene enesiphene.

Xa kufuneka ubone ugqirha ngoko nangoko

Ukuba ufunyenwe unesifo sikaFabry kwaye ufumana naziphi na iimpawu ezilandelayo, bona ugqirha wakho ngoko nangoko okanye uye kwiSebe lezeMpilo eziNgxamisekileyo (ETU) elikufutshane nawe.

• Iintlungu zesifuba, ukubetha kwentliziyo okungahambelaniyo, ubunzima bokuphefumla (ezi zisenokuba ziimpawu zokuhlaselwa yintliziyo).
• Ukudumba okugqithisileyo okanye ukugcinwa kolwelo emzimbeni.
• Isiyezi esinzima, iingxaki zokubona, utshintsho kwintetho (ezi zinokuba ziimpawu zestroke).
• Ukulahlekelwa kukuva ngequbuliso.
• Ukuqaqamba okukhulu kwesisu okanye urhudo.

Imibuzo ebalulekileyo yokubuza ugqirha wakho

Xa ufunyaniswa ukuba unesi sifo, kuyinto eqhelekileyo ukuba nemibuzo emininzi. Ungalibali ukubuza le mibuzo xa ubona ugqirha wakho.

• Ndingayifumana njani isifo sikaFabry?
• Luhlobo luni lwesifo sikaFabry endinaso?
• Loluphi unyango olungcono kum?
• Zithini iingozi kunye nemiphumo emibi yezo ndlela zonyango?
• Ingaba usapho lwam lusengozini yokufumana esi sifo? Ngaba kufuneka sivavanywe ngokwemfuza?
• Ziziphi iindlela zonyango kunye novavanyo ekufuneka ndiqhubeke ndizifumana?
• Zeziphi iimpawu zeengxaki ekufuneka ndizixhalabele ngakumbi?

Kuqhelekile ukuba uzive ulusizi kwaye uxhalabile xa ufunyaniswa ukuba unesifo sikaFabry. Usenokuba ukhathazekile ngekamva kunye nabantwana bakho. Kodwa khumbula, ngoku kukho unyango olusebenzayo kakhulu lokulawula esi sifo. Kwaye kukho uphando oluninzi oluqhubekayo olusinika ithemba ngekamva. Ngokulandela isicwangciso sakho sonyango ngokusondeleyo kunye nokusebenzisana ngokusondeleyo nogqirha wakho, unokulawula iimpawu zakho, uthintele umonakalo wexesha elide, kwaye uphile ubomi obuphumelelayo.