Isifo se-Gaucher (esichazwa ngokuthi "GO shay") sisifo semfuyo kunye nemimandla ephakamileyo yeempawu zekliniki ezichaphazela iinkqubo ezininzi zomzimba zomzimba. Kwindlela eqhelekileyo ye-Gaucher, abantu banempawu eziphathekayo. Kwezinye iintlobo zesifo se-Gaucher, iimpawu zinzima kwaye zinzima kakhulu ukunyanga. Ugqirha wakho uya kukunceda ufunde oko ungalindela kwimeko ethile.
Yintoni Eyibangela Ukugula Kwegulcher?
Isifo se-Gaucher sisifo sofuzo esibangelwa yingxaki ngesifo esibizwa ngokuba yi- GBA . Lo mzimba uyingxenye ye-DNA yakho, izinto eziphathekayo ezizalisekayo kubazali bakho.
I- GBA gene ijongene nokwenza i-enzyme ebizwa ngokuthi i-glucocerebrosidase. Kubantu abanesifo se-Gaucher, le enzyme ayinalo, okanye ayisebenzi kunye nokufanele.
Ukuqonda ukubaluleka kwale enzyme, kubalulekile ukwazi malunga nenxalenye yeseli ebizwa ngokuba yi-lysosome. I-Lysosomes ikhona njengamalungu ngaphakathi kweeseli zomzimba wakho. Baya kunceda ukuhlambulula nokulahla impahla enokuthi umzimba awukwazi ukuwaphula. Benza indima ebalulekileyo ekudilizeni izinto ezinokuqokelela emzimbeni. I-Glucocerebrosidase yenye ye-enzymes ekunceda i-lysosomes yenza oku.
Ngokuqhelekileyo, le enzyme inceda ukubuyisela kwakhona into enamafutha emzimbeni obizwa ngokuba yi-glucocerebroside. Kodwa kwisifo se-Gaucher, i-glucocerebrosidase ayisebenzi kakuhle.
I-enzyme ayinakusebenza ngokupheleleyo, okanye inokunciphisa umsebenzi. Ngenxa yoko, i-glucocerebroside iqala ukwakha kwiindawo ezahlukeneyo zomzimba. Oku kukhokelela kwiimpawu zalo mqathango.
Xa amaseli athile omzimba azaliswa yi-glucocerebroside engaphezulu, abizwa ngokuba yi "Gaucher cell".
Ngokomzekelo, ukwakheka kweeseli ze-Gaucher kwindawo yomnatha wethambo kuvimbela umzimba wakho ukuba ungakwazi ukuvelisa inani eliqhelekileyo leeseli ezintsha zegazi apho. I-buildup ye-glucocerebroside kunye neeseli ze-Gaucher ngokukhethekileyo ingxaki kwi-spleen, isibindi, ithambo kunye nengqondo.
Iingxaki nezinye iindidi ze-enzymes kwi-lysosomes zingakhokelela kwezinye iintlobo zeengxaki. Njengeqela, ezi zibizwa ngokuba zizifo zokugcina i-lysosomal.
Ziyayifana Njani Nezifo Zesiqhwaba?
Isifo se-Gaucher sisimo esingavumelekanga. Ichaphazela intsana enye inzala engama-100,000. Nangona kunjalo, kwiintlanga ezithile, izifo ze-Gaucher ziqhelekile, njengamaYuda aseAshkenazi. Ngokomzekelo, malunga neyodwa kwi-450 iintsana zesi sifo semfuzo sinesifo se-Gaucher.
Isifo se-Gaucher sisona siqhelekileyo kwizifo zokugcina izilwanyana, eziquka ezinye iimeko ezifana neTay-Sachs nesifo sePompe .
Izifo Ze-Gaucher Zifumana Njani?
Ugqirha unokuqala ukukrokrela isifo se-Gaucher esekelwe kwimpawu zomntu kunye neempawu zonyango. Ukuba umntu uyaziwa ukuba unesifo se-Gaucher kwiintsapho zawo, okwandisa ukusola kwesifo.
Abantu abanezifo ze-Gaucher kaninzi banokufumana iziphumo zelabhu eziqhelekileyo, ezinjengefuthe lomnatha wethambo. Ezi ziphumo zinganceda ekubhekiseleleni kwiGaucher.
Kukho iintlobo zezinye iimvavanyo zelabhoratri kunye neengcamango ezingagqirha ugqirha wakho ukuvavanya isimo seGaucher yakho. Ngokomzekelo, ugqirha wakho unokufuna i- MRI ukuba iqaphele ukukhuliswa komzimba kwangaphakathi.
Nangona kunjalo, ukuxilongwa okwenene, ugqirha wakho uya kufuna kwakhona ukuhlolwa kwegazi okanye i-biopsy yolusu. Le sampuli isetyenziselwa ukubona indlela i-glucocerebrosidase isebenza ngayo. Enye indlela i-bloodtic gene okanye uvavanyo lweethambo ezisetyenziselwa ukuhlaziya i-GBA gene.
Ngenxa yokuba isifo esinqabileyo, amaninzi amayeza awaqhelanga kakhulu neGaucher. Ngokwengxenye ngenxa yoko, ukuxilongwa kwesifo se-Gaucher ngamanye amaxesha kuthatha ixesha.
Oku kunokwenzeka ukuba akukho nanye kwintsapho sele eyaziwa ukuba nayo.
Ziziphi iindidi ezahlukeneyo zeGaucher Disease?
Kukho iintlobo ezintathu eziphambili zezifo ze-Gaucher: uhlobo 1, uhlobo lwesi-2, kunye nohlobo 3. Ezi ntlobo ziyahlukahluka kwezinye iimpawu zabo kunye nobuqili babo. Uluhlu 1 luhlobo olumnene lweGaucher. Ayichaphazeli inkqubo ye-nervous, ngokungafani nohlobo lwe-2 kunye nohlobo lwe-3 lwe-Gaucher. Uhlobo lwe-2 lwe-Gaucher isifo esiyingozi kakhulu.
Uninzi lwabantu abanesifo se-Gaucher bane-Type 1 yesifo. Phantse i-1 ekhulwini labantu abane-Gaucher bacingelwa ukuba banesifo sesibini. Phantse ama-5 ekhulwini labantu abane-Gaucher baye bafake isifo sesithathu.
Xa kuqwalaselwa iimpawu ze-Gaucher disease, kubalulekile ukukhumbula ukuba abantu bafumana ubuninzi beempawu ezinzima. Iimpawu ziyahlukana phakathi kweentlobo ezintathu.
Iimpawu zohlobo lwe-1 lwe-Gaucher Disease
Iimpawu kunye neempawu zolu hlobo 1 Isifo sokuhlawula kuqala sivela ebuntwaneni okanye sabantu abadala. Iingxaki zesifo zingabandakanya:
- Ubuhlungu benthambo engapheliyo
- Iintlungu zesantya ezinqabileyo
- Iphunga lesifuba
- Osteoporosis
- Arthritis
Uhlobo lwe-1 Uluhlu luyakuchukumisa ezinye zezitho zangaphakathi. Ingabangela ukwandiswa kwepeni nesibindi (esibizwa ngokuba yi-hepatosplenomegaly). Oku kuvame ukuba buhlungu kodwa kubangela ukusabalalisa kwesisu kunye nomvakalelo wokuzaliseka.
Uhlobo lwe-1 Umgcini-mhlaba udala into ebizwa ngokuthi yi- cytopenia . Oku kuthetha ukuba abantu abanezifo ze-Gaucher banamaqondo angaphantsi kwamazinga aqhelekileyo weeseli zegazi ezibomvu (kubangele i- anemia ), iiseli zegazi ezimhlophe kunye neeplatelet. Abantu abane-Gaucher banokunye okunye okungaqhelekanga kunye nokungaqhelekanga kokuzikhusela. Oku kunokukhokelela kwiimpawu ezifana:
- Ukukhathala
- Ukulapha okulula okanye ukutyhafaza
- Iimbopho
- Umngcipheko ophezulu wokusuleleka
Isifo se-Gaucher sinokuchaphazela imiphunga, ekhokelela kwiingxaki ezinjenge:
- Isifo sesifo semiphunga
- I-blood pressure
- Isiqhamo
- Ukuqhawukelwa ngumphefumlo
Ukongezelela, udidi lwe-1 Uluhlu lungabangela:
- Umngcipheko wokwanda kwama- gallstones
- Ukukhula kakubi kunye nophuhliso
- Iingxaki zengqondo, ezifana nokudandatheka
- Iintliziyo ezinzima (ezingaqhelekanga)
- Iingxaki zeengso (ezinqabileyo)
Abanye abantu abaluhlobo lwesifo se-Gaucher abanezifo ezinzima kakhulu kwaye abanako ukuphawula nayiphi na impawu. Nangona kunjalo, oogqirha banokubona ukungaqhelekanga ngokuncedisa iziphumo zebhubhoratri kunye neemvavanyo zengqondo.
Iimpawu zohlobo lwe-2 kunye nohlobo lwe-3 lwe-Gaucher Disease?
Phantse zonke iinkqubo ezifanayo zomzimba ezichaphazelekayo ngohlobo lwesifo 1 zingabangela iingxaki zohlobo lwe-2 kunye nohlobo lwesithathu kwisifo. Nangona kunjalo, iintlobo ze-2 kunye ne-3 zinezinye iimpawu ze-neurological. Ezi zimpawu zinzima kakhulu kwizigulane ezinezifo zesibini. Aba bantwana bafa ngaphambi kokuzalwa kweminyaka engama-2. Kwimeko eqhelekileyo yesi sifo, abantwana bayafa kungekudala ngaphambi kokubeleka. Kubantu abanohlobo lwe-3 le-Gaucher, ezi ngxaki azikho nzima, kwaye abantu banokuhlala kwi-20s, 30s okanye ngaphezulu.
Izimpawu ze-neurological ezibonwa ngohlobo lwe-2 kwaye zifake izifo ezininzi ezininzi zibandakanya:
- Ukungalungi kweeyeso (i-strabismus)
- Iingxaki ngezinto zokulandelela okanye ukujonga ubuso
- Ukuxhamla
- Ukuqina komzimba
- Ubuthakathaka obuthathaka
- Iingxaki kunye nokuhamba kunye nokuhambelana
- Iingxaki ngokuthetha nokugwinya
- Ukulahlwa kwengqondo
- Dementia
I-subset yabantu abanomhlobo wesi-2 okanye uhlobo lwe-Gaucher nabo baneempawu ezongezelelweyo. Imizekelo ibandakanya ukutshintsha kwesikhumba, iingxaki kunye ne-cornea yabo, kunye ne-calcification heart valve.
I-Gaucher kunye neSifo esiSekondari
Izifo ze-Gaucher zandisa ingozi kwezinye izifo. Ngokomzekelo, abantu abane-Gaucher banomngcipheko ophezulu kune- Parkinson . Ezinye ii-cancer ziyakwazi ukugqithisa kakhulu kubantu abanezifo ze-Gaucher, eziquka:
- Iidumbu zegazi
- Myeloma ezininzi
- Umhlaza wesifo
- Umhlaza wesifo
Abantu abane-Gaucher nabo basengozini yezinye iingxaki zesibini, ezifana ne-splenic infarction (ukungabikho kwegazi ukuhamba kwipeni, kubangela ukufa kwesisu kunye nobuhlungu obukhulu besisu).
Unyango lwe-Gaucher Disease
Umgangatho wonyango lwe-Gaucher isifo yonyango yokutshintshwa kwe-enzyme (ngamanye amaxesha kuthiwa yi-ERT). Olu unyango lwaguqula unyango lweGaucher.
Kwi-ERT, umntu ufumana ifom ye-glucocerebrosidase ngendlela ehlanganiswayo ngendlela efakwe kwi-infusion intravenous. Iifom ezahlukeneyo ze-ERT ngoku ziyakhweba ngokuthengisa, kodwa zonke zibonelela nge-enzyme yokubuyisela. Zezi:
- iblucase (ebizwa ngokuba nguCerezyme)
- velaglucerase alfa (VPRIV)
- taliglucerase alfa (Elelyso)
Ezi zonyango ziphumelela kakhulu ekunciphiseni iimpawu zeethambo, iingxaki zegazi, kunye nesibindi kunye nokwandiswa kwebhanti. Nangona kunjalo, asebenzi kakuhle ekuphuculeni iimpawu ze-neurological eziboniswe ngohlobo lwe-2 kunye nohlobo lwe-3 lwe-Gaucher.
I-ERT isebenze kakhulu ekunciphiseni iimpawu zolu hlobo lwe-Gaucher, kunye nokunciphisa ezinye zeempawu zoluhlobo lwe-Gaucher. Ngelishwa, kuba uhlobo 2 lwe-Gaucher lunengxaki ezinzulu zeengxaki ze-neurological, i-ERT ayikhuthazwa kulolu hlobo. Abantu abanomhlobo wesi-2 Umgcini-mboleko bafumana unyango kuphela.
Olunye ukhetho olutsha olusandul 'uhlobo lwe-1 Le-Gaucher yonyango lokunciphisa unyango. Ezi zi yobisi zinciphisa umveliso wezinto ezidlulayo i-glucocerebrosidase. Zezi:
- miglustat (Zavesca)
- eliglustat (Cerdelga)
I-Miglustat ifumaneka njengendlela yokukhetha abantu abangenakuthatha i-ERT ngesizathu esithile. U-Eliglustat isilwanyana esisemthethweni esona khetho kwabanye abantu abane-type 1 Gaucher. Ingumuthi omtsha, kodwa obunye ubungqina bubonisa ukuba lusebenza ngokufanelekileyo njenge-ERT zokwelapha.
Ezi zonyango kwi-Gaucher zingabiza kakhulu. Uninzi lwabantu luya kufuneka lusebenze ngokusondeleyo nenkampani yabo yomshuwalense ukuze ibone ukuba banokufumana inkxaso efanelekileyo yonyango.
Abantu abanezifo ze-Gaucher kufuneka baphathwe ngugqirha onamava kunye nesimo. Aba bantu bafuna ukulandelwa rhoqo kunye nokubeka esweni ukujonga ukuba isifo sabo sisabela njani kunyango. Ngokomzekelo, abantu abane-Gaucher badla ngokufuna iimfono eziphindaphindiweyo zokubona ukuba isifo sifuthe njani amathambo abo.
Abantu abangenako ukufumana i-ERT okanye unyango olutsha lokunciphisa unyango lungadinga unyango olongezelelweyo lweempawu zeGaucher. Ngokomzekelo, aba bantu bangadinga ukumpontshelwa igazi ngenxa yokuphuma kwegazi.
Izifo ZeGaucher Zizuzwa Njani?
Isifo se-Gaucher sisimo se- autosomal se- genetic. Oko kuthetha ukuba umntu onesifo se-Gaucher ufumana ikopi yomgubo weGBA ochaphazelekayo kumzali ngamnye. Umntu onelinye ikopi ye- GBA yesifo esithintekileyo (ifa elivela kumzali omnye) kuthiwa ngumphathiswa wemeko. Aba bantu banokwanela ukusebenza glucocerebrosidase ukuba abanalo iimpawu. Abantu abanjalo bahlala bengazi ukuba bayabathwala izifo ngaphandle kokuba umntu onentsapho yakhe afunyanwe nesifo. Abathwali basengozini yokudlulisela ikopi echaphazelekayo yomthwalo kubantwana babo.
Ukuba wena kunye nomlingani wakho bobabini bezithuthi ze-Gaucher izifo, kukho ithuba elingu-25 lokuba umntwana wakho uya kuba nesifo. Kukho amathuba okuba ngamashumi ama-50 ukuba umntwana wakho akayi kuba nesifo kodwa uya kuba ngumphathisi-mqathango kwimeko. Kukho ithuba leepesenti ezingama-25 ukuba umntwana wakho akayi kuba nesifo okanye abe ngumthwali. Ukuvavanywa kokubeleka kufumaneka kwiimeko apho umntwana usemngciphekweni weGaucher.
Thetha ugqirha wakho ukuba ukhathazeka ukuba unokuba ngumthwali wesifo se-Gaucher esekelwe kwimbali yakho yentsapho. Ukuba umntu osentsapho yakho unesifo se-Gaucher, unokuba usengozini. Iimvavanyo ze-Genetic zingasetyenziselwa ukuhlalutya izityalo zakho zegeni kwaye ubone ukuba ungumthambo wesifo.
ILizwi
Kunokumangalisa ukufunda ukuba wena okanye othandekayo unesifo se-Gaucher. Kuninzi ukufunda malunga nokulawula imeko, kwaye akumele uyenze konke ngokukhawuleza. Ngethamsanqa, ekubeni ukufumaneka kwe-ERT, abaninzi abantu abanesifo se-Gaucher bangakhokelela ubomi obuqhelekileyo.
> Imithombo:
> I-Nagral A. Gaucher izifo. Umbhalo Wezonyango kunye neengcaphephe > I-Hepatology. > 2014; 4 (1): 37-50. > i-doi >: 10.1016 / j.jceh.2014.02.005.
> Pastores GM, Hughes DA. Izifo zeGaucher. 2000 Julayi 27 [Kuhlaziywa ngoFebruwari 26 Feb]. Ku: iPhalamende likaAdam, i-Ardinger HH, i-Pagon RA, kunye ne-al, abahleli. GeneReviews® [Intanethi]. Seattle (WA): Yunivesithi yaseWashington, Seattle; 1993-2018. Kufumaneka ukusuka: https://www.ncbi.nlm.nih.gov/books/NBK1269/