Isifo se-Gaucher (esabizwa ngokuthi "SIKHOLELA" isifo sezakhi zofuzo ezinezimpawu eziningi zemitholampilo ezithinta izinhlelo eziningana zomzimba zomzimba. Ngendlela ejwayelekile kakhulu ye-Gaucher, abantu banezimpawu eziphathekayo kakhulu. Kwezinye izinhlobo ze-Gaucher, izimpawu zinzima kakhulu futhi zinzima kakhulu ukuphatha. Udokotela wakho uzokusiza ukuthi ufunde ukuthi yini ongayilindela esimweni sakho esithile.
Yini Ebangelwa Izifo Zomtholampilo?
Isifo se-Gaucher yisifo sofuzo esibangelwa inkinga ngegesi ebizwa nge- GBA . Leli gciwane liyingxenye ye-DNA yakho, izinto eziphathekayo ezivela kubazali bakho.
Igayela le- GBA linesibopho sokwenza i-enzyme ebizwa ngokuthi i-glucocerebrosidase. Kubantu abanesifo se-Gaucher, le enzyme ayilutho, noma ayisebenzi ngendlela efanele.
Ukuze uqonde ukubaluleka kwalokhu ku-enzyme, kubalulekile ukwazi ngengxenye yeseli ebizwa ngokuthi i-lysosome. I-Lysosomes ikhona njengezingxenye ngaphakathi kwamaseli omzimba wakho. Basiza ukuhlanza nokulahla izinto ezibonakalayo ukuthi umzimba awukwazi ukuwohloka. Benza indima ebalulekile ekudilizeni izinto ezingakwazi ukuqoqa emzimbeni. I-Glucocerebrosidase ingenye ye-enzymes esiza i-lysosomes ukwenza lokhu.
Ngokuvamile, le enzyme isisiza ukubuyisela kabusha into enamandla emzimbeni obizwa ngokuthi i-glucocerebroside. Kodwa ezifweni ze-Gaucher, i-glucocerebrosidase ayisebenzi kahle kakhulu.
I-enzyme kungenzeka ingabi nhlobo nhlobo, noma kungenzeka ukuthi inciphise umsebenzi. Ngenxa yalokhu, i-glucocerebroside iqala ukwakha ezindaweni ezihlukahlukene zomzimba. Lokhu kuholela ezimpawu zesimo.
Lapho amasosha omzimba athile egcwele iglucocerebroside ngokweqile, abizwa ngokuthi "Amaseli e-Gaucher." Lawa maseli a-Gaucher angakwazi ukukhipha amaseli avamile, abangela izinkinga.
Isibonelo, i-buildup yamaseli we-Gaucher emnothweni wethambo avimbela umzimba wakho ukuba ungakwazi ukukhiqiza inani elivamile lamaseli egazi amasha lapho. I-glucocerebroside ne-Gaucher cell ikakhulukazi yinkinga ku-spleen, isibindi, amathambo nobuchopho.
Izinkinga nezinye izinhlobo ze-enzyme kuma-lysosomes zingaholela kwezinye izinhlobo zezinkinga. Njengeqembu, lezi zibizwa ngokuthi izifo zokulondoloza i-lysosomal.
Isifo Esinjani Isifo Sezinambuzane?
Isifo se-Gaucher yisimo esingavamile. Lithinta cishe isana elilodwa elizalwa ngaphandle kwezingu-100,000. Nokho, kwezinye izizwe, izifo ze-Gaucher zivame kakhulu, njengamaJuda ase-Ashkenazi. Isibonelo, cishe eyodwa kwezinganeni ezingu-450 zalesi sizinda sezifuzo zinesifo se-Gaucher.
Izifo ze-Gaucher zivame kakhulu izifo zokulondoloza i-lysosomal, ezihlanganisa nezinye izimo ezifana ne- Tay-Sachs nesifo sePompe .
Izifo Zama-Gaucher Zitholakala Kanjani?
Udokotela angase akhohlwe kuqala isifo se-Gaucher esekelwe izimpawu zomuntu nezibonakaliso zezokwelapha. Uma umuntu eyaziwa ukuthi unesifo se-Gaucher emndenini wabo, lokho kwandisa ukusola kwesifo.
Abantu abanezifo ze-Gaucher nabo bavame ukuthola izinto ezingavamile zokutholwa kwelabhorethri, njengezintambo zamathambo. Lokhu okutholakele kungase kusize ekukhomba ku-Gaucher.
Kunezinhlobonhlobo zezinye izivivinyo zama-laboratory nezithombe zokucabanga ezidinga ukuthi udokotela wakho angasebenzisa ukuhlola isimo se-Gaucher wakho. Isibonelo, udokotela wakho angase afune i- MRI ukuhlola ukukhuliswa komzimba wangaphakathi.
Nokho, ukuze uthole ukuxilongwa kwangempela, udokotela wakho uzodinga ukuhlolwa kwegazi noma i-biopsy yesikhumba. Lesi sampuli sisetshenziselwa ukubona ukuthi i-glucocerebrosidase isebenza kahle kangakanani. Okunye okunye ukuhlolwa kwegazi noma isisindo somzimba esetshenziselwa ukuhlaziya isakhi se-GBA.
Ngenxa yokuthi isifo esingavamile, odokotela abaningi abajwayelene kakhulu ne-Gaucher. Ingxenye ngenxa yalokhu, ukuxilongwa kwesifo se-Gaucher ngezinye izikhathi kuthatha isikhashana.
Lokhu kungenzeka ikakhulukazi uma akekho omunye emkhayeni osevele eyaziwa ukuthi unayo.
Yiziphi Izinhlobo Ezihlukahlukene Zesifo Sezinkukhu?
Kunezinhlobo ezintathu ezinkulu zezifo ze-Gaucher: uhlobo 1, uthayiphe u-2, bese uthayipha 3. Lezi zinhlobo zihlukile kwezinye izibonakaliso zabo nangobunzima babo. Uhlobo 1 luhlobo olumnene kakhulu lwe-Gaucher. Akuthinti isimiso sezinzwa, ngokungafani nohlobo lwe-2 futhi uthayiphe isifo se-Gaucher 3. Thayipha isifo sesi-2 se-Gaucher yilona uhlobo olunzima kakhulu.
Iningi labantu abanezifo ze-Gaucher baneSifo 1. Cishe amaphesenti angu-1 abantu abane-Gaucher bacatshangwa ukuthi banesifo sohlobo lwe-2. Cishe amaphesenti angu-5 abantu abane-Gaucher baye bacubungula izifo ezintathu.
Uma ucabangela izimpawu zesifo se-Gaucher, kubalulekile ukukhumbula ukuthi abantu bathola ubunzima obuhlukahlukene bezimpawu. Izimpawu ziyahlangana phakathi kwalezi zinhlobo ezintathu.
Izimpawu zohlobo lwe-1 lwe-Gaucher
Izimpawu nezimpawu zohlobo lwe-1 I-Gaucher isifo sokuqala zivela ebuntwaneni noma ekukhuleni. Izinkinga ze-bone zingabandakanya:
- Ubuhlungu besifuba esingapheliyo
- Izifo eziphuthumayo zamathambo
- I-bone fracture
- I-osteoporosis
- I-arthritis
Thayipha umhloli we-1 futhi uthinta ezinye zezingaphakathi zangaphakathi. Kungabangela ukwandiswa kwesipere nesibindi (okuthiwa i-hepatosplenomegaly). Lokhu kuvame ukungabi nabuhlungu kodwa kubangela ukuhlukaniswa kwesisu nangomzwelo wokugcwele.
Thayipha umhloli we-1 futhi ubangela okuthiwa yi- cytopenia . Lokhu kusho ukuthi abantu abanezifo ze-Gaucher banamazinga aphansi kunejwayelekile avamile amangqamuzana egazi abomvu (okwenza i- anemia ), amangqamuzana egazi amhlophe, namaplatelet. Abantu abane-Gaucher bangase babe nezinye izinto zokugcoba nokuzivikela okufanayo. Lokhu kungaholela ezimpawu ezifana nalezi:
- Ukukhathala
- Ukuphuma okulula noma ukulimaza
- I-Nosebleeds
- Ingozi eyengeziwe yokutheleleka
Isifo se-Gaucher singathinta namaphaphu, okuholela ezinkingeni ezifana nalezi:
- Isifo sesifo samaphaphu
- Umfutho wegazi ophezulu we-pulmonary
- Isikhukhula
- Ukuphelelwa umoya
Ukwengeza, thayipha u-Gaucher 1 ongabangela:
- Ingozi ekhuphuka yezinhlamvu zamagciwane
- Ukukhula okuncane nokuthuthukiswa
- Izinkinga zengqondo, njengemizwelo ecindezelekile
- Izinkinga zenhliziyo (ezingavamile)
- Izinkinga zezinso (ezingavamile)
Abanye abantu abanesifo sohlobo lwe-Gaucher 1 banezifo ezincane kakhulu futhi bangase bangaboni izimpawu. Kodwa-ke, odokotela bangathola ukungafani okuncane ngosizo lwezokutholwa kwe-laboratory nokuhlolwa kwe-imaging.
Izimpawu zohlobo lwe-2 nohlobo lwe-3 lwe-Gaucher Disease?
Cishe zonke izinhlelo ezifanayo zomzimba ezithintekayo uhlobo lwesifo 1 zingabangela nezinkinga ngohlobo lwe-2 futhi zifake izifo ezintathu. Nokho, izinhlobo ezimbili no-3 nazo zinezimpawu ezengeziwe zezinzwa. Lezi zimpawu zinzima kakhulu ezigulini ezinezinhlobo ezimbili zesifo. Lezi zivame ukufa ngaphambi kweminyaka engama-2. Esifweni esingavamile kakhulu sesifo, izingane zifa maduze nje noma ngemva nje kokuzalwa. Kubantu abanomhlobo we-Gaucher we-type 3, lezi zinkinga azizona ezinzima, futhi abantu bangase bahlale kuma-20s, 30s, noma ngaphezulu.
Izimpawu ze-neurological ezitholakala ngohlobo lwama-2 bese uthayipha izifo ezintathu eziningi zifaka:
- Ukungalungiswa kweso (strabismus)
- Izinkinga ngezinto zokulandelela noma ukubuka okuguqukayo
- Ukuzizwa
- Ukuqina kwemisipha
- Ubuthakathaka bemisipha
- Izinkinga ngokulinganisela nokunyakaza okudidiyelwe
- Izinkinga ngokukhuluma nokugwinya
- Ukuphuza kwengqondo
- I-Dementia
I-subset yabantu abanohlobo lwe-2 noma uthayipha i-Gaucher 3 futhi unezimpawu ezengeziwe. Izibonelo zifaka izinguquko zesikhumba, izinkinga nge-cornea yazo, nokubalwa kwe-valve yenhliziyo.
I-Gaucher ne-Secondary Secondary Illness
Isifo se-Gaucher futhi sandisa ingozi yezinye izifo. Isibonelo, abantu abane-Gaucher banengozi ephakeme ye- Parkinson . Amanye amakhemikhali angase avame kakhulu kubantu abanezifo ze-Gaucher, kufaka phakathi:
- Amagciwane egazi
- I-myeloma eminingi
- Umdlavuza wesibindi
- Umdlavuza wezinso
Abantu abane-Gaucher nabo basengcupheni yezinye izinkinga ezincane, njenge-influction ye-splenic (ukungabi khona kwegazi okugeleza ku-spleen, okubangela ukufa kwesisu kanye nobuhlungu obukhulu besisu).
Ukwelashwa kwezifo ze-Gaucher
Isimiso sokwelashwa kwesifo se-Gaucher yisifo se-enzyme sokushintsha esikhundleni (ngezinye izikhathi esibizwa nge-ERT). Le ukwelashwa kwashintsha ukwelashwa kwe-Gaucher.
Ku-ERT, umuntu uthola uhlobo oluhlanganisiwe lwe-glucocerebrosidase ngesimo sokumnika okufakwe ngaphakathi. Izinhlobo ezahlukene ze-ERT manje zisemakethe ngokuthengisa, kodwa zonke zihlinzeka nge-enzyme yokubuyisela. Lezi izi:
- i-gluccerase (yabizwa ngo-Cerezyme)
- i-velaglucerase alfa (i-VPRIV)
- i-taliglucerase alfa (i-Elelyso)
Lezi zokwelapha ziyasebenza kakhulu ekunciphiseni izimpawu zethambo, izinkinga zegazi, nesibindi kanye nokwandiswa kwamapule. Noma kunjalo, asebenzi kahle ekuthuthukiseni izimpawu zezinzwa ezitholakala ngohlobo lwe-2 bese uthayipha izifo ezintathu ze-Gaucher.
I-ERT isebenza kahle ekunciphiseni izimpawu zohlobo lwe-1 Umthengisi, nokunciphisa ezinye zezimpawu zohlobo lwe-Gaucher. Ngeshwa, ngoba uhlobo lwe-Gaucher 2 lunezinkinga ezinkulu ze-neurological, i-ERT ayinconywa ngalolu hlobo. Abantu abanohlobo lwe-2 Umthengisi ngokuvamile bathola ukwelashwa okusekelayo kuphela.
Enye indlela yokwelashwa esanda kushayelwa uhlobo lwe-Gaucher 1 yindlela yokunciphisa i-substrate. Lezi zidakamizwa zikhawulelisa ukukhiqizwa kwezinto izinto ze-glucocerebrosidase zehla. Lezi izi:
- miglustat (Zavesca)
- i-eliglustat (i-Cerdelga)
I-Miglustat iyatholakala njengendlela yokukhetha abantu abangenakuthatha i-ERT ngesizathu esithile. U-Eliglustat uyisidakamizwa somlomo esiyindlela yokukhetha kwabanye abantu abane-Type 1 Umqashi. Liyisidakamizwa esisha, kodwa ubufakazi obunye bubonisa ukuthi busebenza kahle njengezokwelapha ze-ERT.
Lezi zokwelapha ze-Gaucher zingabiza kakhulu. Iningi labantu kuzodinga ukusebenza eduze nenkampani yabo yomshuwalense ukuze ubone ukuthi bangathola ukutholakala okufanele kokwelapha.
Abantu abanezifo ze-Gaucher kufanele baphathwe ngumchwepheshe onolwazi nesimo. Laba bantu badinga ukulandelwa njalo nokuqapha ukuze babone ukuthi isifo sabo sisabela kanjani empilweni. Isibonelo, abantu abane-Gaucher bavame ukudinga ukuhlolwa kwethambo okuphindaphindiwe ukuze babone ukuthi lesi sifo sithinta kanjani amathambo abo.
Abantu abangakwazi ukuthola i-ERT noma i-substrate yokunciphisa ukwelashwa okungasetshenziswa kungadinga ukwelashwa okwengeziwe ngezimpawu ze-Gaucher. Isibonelo, laba bantu bangadinga ukumpontshelwa ngegazi ngenxa yokuphuma kwegazi okukhulu.
Izifo Zama-Gaucher Zizuzwa Njani?
Isifo se-Gaucher yisimo sezakhi zofuzo ezithintekayo . Lokho kusho ukuthi umuntu onesifo se-Gaucher uthola ikhophi yesakhi se- GBA esithintekile kumzali ngamunye. Umuntu onokuphela kwekhophi yesakhi se- GBA esithintekile (esizuzwe ngefa lomzali oyedwa) kuthiwa ophethe isimo. Laba bantu banokusebenza okwanele kwe-glucocerebrosidase ukuthi abanayo izimpawu. Abantu abanjalo ngokuvamile abazi ukuthi bangabantu abathwala izifo ngaphandle uma othile emndenini wabo ethola ukuthi unesifo. Abathwali basengozini yokudlulisela ikhophi ethintekile yegeni ezinganeni zabo.
Uma wena nomlingani wakho kokubili nithwala imithi ye-Gaucher, kunamathuba amaphesenti angu-25 ukuthi ingane yakho izoba nesifo. Kukhona namaphesenti angama-50 amathuba okuthi ingane yakho ngeke ibe nalesi sifo kodwa futhi izoba yithwala yenkinga. Kukhona ithuba lamaphesenti angu-25 ukuthi ingane yakho ngeke ibe nalesi sifo noma ibe yithwala. Ukuhlolwa kokubeletha kuyatholakala ezimweni lapho ingane isengozini ye-Gaucher.
Khuluma nodokotela wakho uma ukhathazeka ngokuthi ungase ube ngumthwali wesifo se-Gaucher esekelwe emlandweni womndeni wakho. Uma othile emndenini wakho enezifo ze-Gaucher, ungase usengozini. Izivivinyo ze-Genetic zingasetshenziselwa ukuhlaziya izakhi zakho zofuzo bese ubona ukuthi uyisithwala yini.
Izwi elivela
Kungaba mkhulu ukuzwa ukuthi wena noma othandekayo unesifo se-Gaucher. Kukhona okuningi okumele ufunde mayelana nokuphatha lesi simo, futhi akudingeki ukwenze konke ngesikhathi esisodwa. Ngenhlanhla, kusukela ekutholakaleni kwe-ERT, abantu abaningi abanesifo se-Gaucher bangabangela ukuphila okujwayelekile.
> Imithombo:
> Isifo se-Nagral A. Gaucher. Journal of Clinical and Experimental > Hepatology. > 2014; 4 (1): 37-50. > doi >: 10.1016 / j.jceh.2014.02.005.
> Pastores GM, i-Hughes DA. Isifo Sokuhlanza. 2000 Jul 27 [Kubuyekezwe ngo-2015 Feb 26]. Ku: MP MP, Ardinger HH, Pagon RA, et al., Abahleli. GeneReviews® [Inthanethi]. Seattle (WA): University of Washington, Seattle; 1993-2018. Itholakala kusuka: https://www.ncbi.nlm.nih.gov/books/NBK1269/