Gaucher chirwere (chinonzi "GO shay" chirwere) chirwere chemafuro ane zviratidzo zvakasiyana-siyana zvemakiriniki anokonzera zvirongwa zvezvikamu zvomuviri. Munzira yakajairika yeGaucher, vanhu vane zviratidzo zvinoporesa zvikuru. Mune dzimwe mhando dzezvirwere zveGaucher, zviratidzo zvakaoma uye zvakaoma kwazvo kubata. Chiremba wako achakubatsira iwe kudzidza zvaunotarisira mune imwe mamiriro ako.
Chii Chichikonzera Gaucher Disease?
Gaucher chirwere chetachiona chinokonzerwa nedambudziko nejeni rinonzi GBA . Iyi geni chikamu cheDNA yako, mazita ekuberekwa kwaunoita kubva kuvabereki vako.
IGBA gene inobatsira pakuita enzyme inonzi glucocerebrosidase. Mune vanhu vane chirwere cheGaucher, ino enzyme haina kukwana, kana inoshanda kusina zvakakodzera.
Kuti unzwisise kukosha kwe enzyme iyi, zvakakosha kuziva pamusoro penhengo yesero inonzi lysosome. Lysosomes iripo sezvikamu mukati memasero emuviri wako. Vanobatsira kuchenesa nekurasa zvinhu izvo muviri hazvikwanisi kuputsa. Vanoita basa rinokosha pakuputsa zvinhu zvinogona kuunganidza mumuviri. Glucocerebrosidase imwe yemakemikari anobatsira lysosomes kuita izvi.
Kazhinji, iyi enzyme inobatsira kudzokorora mafuta mumuviri unonzi glucocerebroside. Asi muGaucher chirwere, glucocerebrosidase haishande zvakanaka kwazvo.
Iyo enzyme ingasave yakashanda zvachose, kana inogona kunge yakaderera basa. Nemhaka yeizvi, glucocerebroside inotanga kuvaka munzvimbo dzakasiyana dzomuviri. Izvi zvinotungamirira kune zviratidzo zvechiitiko chacho.
Apo dzimwe masero ezvirwere zvemasununu anozadzwa nejlucocerebroside yakawanda, inonzi "Gaucher cells." Masero aya eGaucher anokwanisa kukonzera masero mashoma, achikonzera matambudziko.
Semuenzaniso, mazai eGaucher mashepa emapfupa anodzivirira muviri wako kuti usakwanisa kubudisa zviyero zvemasero matsva eropa ipapo. A buildup of glucocerebroside uye maGaucher masero inonyanya kuoma mubembe, chiropa, bone, uye uropi.
Zvinetso nemamwe marudzi e enzymes mu-lysosomes zvinogona kutungamirira kune dzimwe mhando dzematambudziko. Seboka, idzi dzinonzi lysosomal zvirwere zvokuchengetedza.
Zvirwere Zvakadini Gaucher Disease?
Gaucher chirwere chisingawanzoitiki. Inobata nechechecheche mwana mumwechete akaberekwa kunze kwezana 100,000. Zvisinei, mune mamwe madzinza, zvirwere zveGaucher zvinowanzoonekwa, zvakadai seAshkenazi vaJudha. Semuenzaniso, pamusoro peyese muvana vana makumi mana zvechizvarwa ichi vane gaucher zvirwere.
Gaucher chirwere ndicho chinonyanya kuwanda chezvirwere zvekuchengetedza lysosomal, izvo zvinosanganisira zvimwe zvinhu zvakadai seT Tay-Sachs uye zvirwere zvePompe .
Mafuti Gaucher Anowanikwa Sei?
Chiremba angatanga kutanga kushungurudza Gaucher chirwere chinobva pane zviratidzo zvemunhu uye zviratidzo zvekurapa. Kana munhu anozivikanwa kuti ane chirwere cheGaucher mumhuri yavo, izvo zvinowedzera kusafungirwa kwechirwere.
Vanhu vane chirwere cheGaucher vanowanzova nezviitiko zvisingawanzobereki zvebhishopi, zvakadai sepfupa remawere emapfupa. Izvi zvakawanikwa zvinogona kubatsira pakuratidza Gaucher.
Pane kune zvakasiyana-siyana zveimwe laboratori uye zviratidzo zvekufungidzira izvo chiremba wako angashandisa kuongorora humiro yeGaucher yako. Somuenzaniso, chiremba wako angada MRI kuti aongorore kuwedzera kwomuviri.
Zvisinei, nokuda kwekutsvaga kwechokwadi, chiremba wako achadawo kuongororwa ropa kana ganda rinopisa. Ichi chiyeuchidzo chinoshandiswa kuona kuti glucocerebrosidase inoshanda zvakadini. Imwe nzira inoshandiswa ropa rinoshandiswa kuongorora gwaro reGBA.
Nemhaka yokuti chirwere chisingawanzoitiki, vanachiremba vazhinji havazivi zvikuru naGaucher. Chikamu nokuda kweizvi, kuongororwa kweGaucher chirwere dzimwe nguva kunotora nguva.
Izvi zvinonyanya kuitika kana pasina mumwe munhu mumhuri akatozivikanwa kuti ane.
Ndeapi Marudzi Akasiyana-siyana eGaucher Disease?
Kune zvitatu zvakakura zveGaucher zvirwere: rudzi rwekutanga, rudzi rwechipiri, uye rudzi rwemhando yechitatu 3. Aya maitiro akasiyana mune zvimwe zviratidzo uye mukuoma kwawo. Tora 1 ndiyo inonyanya kufanana neGaucher. Iyo haibatsiri hurongwa hwemagandanga, kusiyana nemhando yechipiri uye funga 3 Gaucher chirwere. Tora 2 Gaucher chirwere ndiyo yakanyanya kunyanya.
Ruzhinji rwevanhu vane chirwere cheGaucher vane Type 1 chirwere. Inenge 1 muzana yevanhu vane Gaucher vanofungidzirwa kuti vane chirwere chechipiri. Inenge 5 muzana yevanhu vane Gaucher vane chirwere chechitatu.
Paunofunga nezvezviratidzo zveGaucher zvirwere, zvinokosha kuyeuka kuti vanhu vanoona zviratidzo zvakasiyana-siyana zvakasimba. Zviratidzo zvinopindirana pakati pematatu aya.
Zviratidzo zveTsika 1 Gaucher Disease
Zviratidzo nezviratidzo zvechirwere 1 Chirwere chechecheche chinotanga kuonekwa muhuduku kana kuti munhu mukuru. Zvinetso zvepafu zvinogona kusanganisira:
- Kupora mapfupa asingagumi
- Zvichida episodes pfupa rinorwadza
- Bhuti rinoputsika
- Osteoporosis
- Arthritis
Ita 1 Gaucher inobatawo dzimwe dzenhengo dzomukati. Inogona kukonzera kukura kwepleen uye chiropa (inonzi hepatosplenomegaly). Izvi zvinowanzosuruvarisa asi zvinokonzera kubvisa kumimba uye kunzwa kwekuzara.
Tora 1 Gaucher inokonzera chimwe chinhu chinonzi cytopenia . Izvi zvinoreva kuti vanhu vane zvirwere zveGaucher vane pasi kudarika zviyero zvemasero matsvuku eropa (zvichikonzera anemia ), masero machena eropa, uye maplatelet. Vanhu vane Gaucher vanogona kunge vane humwe hutano uye hutachiona hwekuzvidzivirira pamwe chete. Izvi zvinogona kutungamirira kune zviratidzo zvakadai se:
- Kuneta
- Kubuda ropa nyore kana kupwanya
- Nosebleeds
- Kuwedzerwa njodzi yehutachiona
Gaucher chirwere chinogona kukanganisa mapapu, zvichiita kuti matambudziko akadai se:
- Interstitial lung disease
- Pulmonary hypertension
- Kukosora
- Kupfupika kwemhepo
Uyezve, faira 1 Gaucher inogona kukonzera:
- Kuwedzera kwengozi yemakumbo emakumbo
- Kukurira kukura uye kubudirira
- Zvinetso zvepfungwa, zvakadai sekuora mwoyo
- Mwoyo zvinetso (zvisingawanzoitiki)
- Zvinetso zvepyiyo (zvisingawanzoitiki)
Vamwe vanhu vane chirwere chekuchechera 1 chirwere chechicheche vane zvirwere zvakanyanya uye vangasaona zviratidzo. Zvisinei, vanachiremba vanogona kuona humwe hutsika husina kunaka nekubatsirwa kwema laboratori nekuongorora mifananidzo.
Zviratidzo zveTsika 2 uye Tsika 3 Gaucher Disease?
Munenge maitiro ose akafanana emutumbi anokonzerwa nechirwere chekutanga chirwere chinogona kukonzera matambudziko mumhando yechipiri uye chetatu zvirwere. Zvisinei, mhando dzechipiri uye 3 dzinowedzerawo zviratidzo zvehutano. Zviratidzo izvi zvakaoma kwazvo kune varwere vane chirwere chechipiri. Ava vana vanowanzofa vasati vava nemakore maviri. Mune chimiro chisingawanzoitiki chechirwere, vana vanofa nguva pfupi vasati vasvika kana nguva pfupi mushure mekuberekwa. Muvanhu vane mutauro 3 Gaucher, matambudziko aya haasi akaoma, uye vanhu vanogona kugara mumakore avo makumi maviri, makumi matatu, kana kupfuura.
Zviratidzo zvehutano zvakaratidzwa muchirongwa chechipiri uye chinyorwa 3 zvirwere zvizhinji zvinosanganisira:
- Maziso asina kumira maziso (strabismus)
- Zvinetso nekutsvaga zvinhu kana kutarisa
- Kugumburwa
- Tsvina yakasimba
- Utsi husina simba
- Matambudziko nekuenzanisa uye kurongeka kunoitwa
- Zvinetso nokutaura uye kumedza
- Kuora mwoyo kwepfungwa
- Dementia
Chikamu chevanhu vane rudzi rwechipiri kana rudzi rwechitatu Gaucher vanewo zvimwe zviratidzo. Mienzaniso inosanganisira ganda rinoshanduka, zvinetso ne cornea, uye moyo valve calcification.
Gaucher uye Zvirwere Zvirwere
Chirwere chegaucher chinowedzerawo ngozi dzeimwe zvirwere. Semuenzaniso, vanhu vane Gaucher vane huwandu hunopfuura huwandu hwehupenyu hwePasinson . Zvimwe zvirwere zvekenza zvinogonawo kuva zvakanyanya kune vanhu vane chirwere cheGaucher, kusanganisira:
- Ropa kanzira
- Multiple myeloma
- Chirwere cheropa
- Chirwere chepyiyo
Vanhu vane Gaucher zvakare vari pangozi yezvimwe zvinetso zvechipiri, zvakadai sa splenic infarction (kusakwana kweropa kunopinda kune chironda, zvichikonzera kufa kwechifu uye kurwadziwa kwakanyanya mumimba).
Kurapa kweGaucher Disease
Muenzaniso wekurapa kweGaucher chirwere inyanzvi yezve enzyme replacement therapy (dzimwe nguva inonzi ERT). Iyi kurapa yakashandura kurapwa kwaGaucher.
Mune ERT, munhu anogamuchira chimiro chekugadzira glucocerebrosidase muchimiro chekudzivirira mukati. Mhando dzakasiyana dzeEER dziri ikozvino pamusika zviri zvekutengeserana, asi zvose zvinopa shanduro yekunyora enzyme. Izvi ndezvi:
- maglucerase (aitengesa seCerezyme)
- velaglucerase alfa (VPRIV)
- taliglucerase alfa (Elelyso)
Aya marapa anobudirira chaizvo pakuderedza zviratidzo zvepafu, zvinetso zveropa, uye chiropa uye kuwedzera kwepleen. Zvisinei, haashandi zvakanaka pakuvandudza zviratidzo zvehutano zvakaratidzwa muchirongwa chechipiri uye chinyorwa 3 Gaucher chirwere.
ERT inoshanda zvikuru pakuderedza zviratidzo zvechikwata 1 Gaucher, uye nekudzikisa zvimwe zvezviratidzo zvechikwata 3 Gaucher. Zvinosuruvarisa, nokuti rudzi rwechipiri 2 Gaucher ane matambudziko akadai ehutano hwehutano, ERT haina kukurudzirwa pamhando iyi. Vanhu vane mutauro 2 Gaucher vanowanzogamuchira rubatsiro rwekusimbisa chete.
Imwe mitsva inoshandiswa pakutsvaga yerudzi rwekutanga 1 Gaucher iri substrate kuderedza therapy. Izvi zvinoderedza kushandiswa kwezvinhu izvo glucocerebrosidase inoputsa. Izvi ndezvi:
- miglustat (Zavesca)
- chikwata (Cerdelga)
Miglustat inowanikwa senzira yevanhu vasingagoni kutora ERT pane chimwe chikonzero. Eliglustat chirwere chemuromo chinosarudzwa kune vamwe vanhu vane rwiyo 1 Gaucher. Iyo mushonga mutsva, asi humwe uchapupu hunoratidza kuti hunobudirira sekurapa kweE ERT.
Izvi zvipatara zveGaucher zvinogona kudhura zvikuru. Vanhu vazhinji vachada kushanda pamwe nekambani yavo ye inshuwarisi kuti vaone kuti vanogona kuwana kuwanika kwakakwana kwemishonga.
Vanhu vane chirwere cheGaucher vanofanira kuporerwa neyanyanzvi vane ruzivo nemamiriro ezvinhu. Vanhu ava vanoda nguva dzose kutevera uye kutarisa kuona kuti chirwere chavo chiri kupindura sei kurapwa. Semuenzaniso, vanhu vane Gaucher vanowanzoda kudzokorora mapfupa emapfupa kuti vaone kuti chirwere ichi chinokanganisa sei mapfupa avo.
Vanhu vasingakwanisi kugamuchira ERT kana kuti mutsva mutsva unoderedza chirwere chinogona kuwedzera kurapa kwezviratidzo zveGaucher. Somuenzaniso, vanhu ava vangada kuwedzerwa ropa nekuda kweropa rakanyanya.
Gaucher Dzaase Inotorwa Sei?
Gaucher zvirwere ndezvokuzvidzivirira kwemajini zvinokonzera. Izvozvo zvinoreva kuti munhu ane chirwere cheGaucher anowana kopi yeGG inogadziriswa kubva kune mumwe mubereki. Munhu ane kambani imwe chete yeGBA yakagadzirirwa (yakagarwa kubva kune mumwe mubereki) inonzi kune mutakuri wemamiriro acho. Vanhu ava vane zvakakwana kushanda glucocerebrosidase zvokuti havana zviratidzo. Vanhu vakadaro kazhinji havazivi kuti ivo vanotakura zvirwere kunze kwekuti mumwe munhu mumhuri yavo aone kuti ane chirwere. Vanotakura vari pangozi yekupfuura ikopi yakakanganiswa yejeni kuvana vavo.
Kana iwe newawakaroorana naye mose mutakuri weGaucher chirwere, kune 25 muzana yemukana wekuti mwana wako ane chirwere chacho. Panewo 50 muzana yeruzivo kuti mwana wako haazove nechirwere asi achavawo mutakuri wemamiriro acho. Pane 25 muzana yemukana wekuti mwana wako haazove nechirwere kana kutakura. Kuongororwa kwepabonde kunowanika munharaunda iyo mwana ari pangozi yeGaucher.
Taura nachiremba wako kana iwe uchizvidya mwoyo kuti iwe unogona kutakura chirwere cheGaucher kubva pane zvakaitika mumhuri yako. Kana mumwe mhuri yako ane chirwere cheGaucher, unogona kunge uri pangozi. Maitiro eGenetic anogona kushandiswa kuongorora majini ako uye kuona kana uri chirwere chetachiona.
Shoko Rinobva
Zvinogona kukuvadza kuziva kuti iwe kana munhu waunoda ane chirwere cheGaucher. Pane zvakawanda zvaunogona kudzidza pamusoro pekutarisira mamiriro acho ezvinhu, uye haufaniri kuzviita kamwechete kamwe. Nenzira yakanaka, sezvo kuwanikwa kweE ERT, vanhu vazhinji vane chirwere cheGaucher vanogona kutungamirira upenyu hunoenderana.
> Sources:
> Nagral A. Gaucher chirwere. Zvinyorwa zveKliniki uye Ongororo > Hepatology. > 2014 (4): 37-50. > doi >: 10.1016 / j.jceh.2014.02.005.
> Pastores GM, Hughes DA. Gaucher Disease. 2000 Jul 27 [Updated 2015 Feb 26]. Mune: Adhamu MP, Ardinger HH, Pagon RA, uye al., Vanyori. GeneReviews® [Indaneti]. Seattle (WA): University of Washington, Seattle; 1993-2018. Inowanikwa kubva kune: https://www.ncbi.nlm.nih.gov/books/NBK1269/