Inherited Disorder With Varying Symptoms and Severity
Gaucher chirwere chinonzi genetic disorder umo rudzi rwemafuta ane mafuta, anozivikanwa seputi, rinotanga kuunganidza mumasero uye nhengo dzomuviri. Chirwere chacho chinorwara neanemia, nyore kuputika, mapfupa emapfupa, marwadzo eurological, uye kuwedzera kwechiropa uye spleen.
Chirwere chegaucher chinorondedzerwa sechinhu chinokonzera kushaya autosomal disorder , zvinoreva kuti ndiyo mamiriro ezvinhu akaberekwa nevabereki.
Inokonzerwa nekushanduka kweiyo inonzi GBA gene iyo inopfuura 380 kusiyana kwakasiyana. Zvichienderana nemhando dzeshanduko dzakagarwa nhaka, vanhu vanogona kuvaka imwe yemhando dzakasiyana-siyana dzechirwere.
Pakati pemhando mitatu yakawanda (rudzi rwekutanga, rudzi rwechipiri, uye firimu 3), zviratidzo zvinogona kubva pane zvinyoro uye zvinotarisirwa kutyisidzira upenyu. Hupenyu hunotarisirwa hunogonawo kuve nekukanganisa, kunyanya kune vanhu vane maitiro akasiyana-siyana echirwere.
Gaucher chirwere chinokanganisa mumwe wevabereki vose makumi mana makumi mana muUnited States, maererano nenhamba kubva kuDragville, Maryland-based National Gaucher Foundation. Anenge mumwe wevanhu 100 vanofungidzirwa kuva mutakuri weGBA mutation. Pakati pevaAshkenazi vaJudha, nhamba iri pedyo nemumwe wevamwe gumi nemashanu.
Zvirwere Zvingaita Sei Kurwara?
IGBA gene inopa mirairo yekuita rudzi rwe enzyme inozivikanwa se beta-glucocerebrosidase. Iyi ndiyo enzyme inokonzera kubvarura rudzi rwehutu hunonzi glucocerebroside.
Mune vanhu vane chirwere cheGaucher, beta-glucocerebrosidase haisisiri basa sezvinofanira. Pasina nzira yekuputsa lipids, maitiro anotanga kuwedzera mumasero, achiita kupisa uye anopindira nemagetsi ese anoshandiswa.
Kuunganidzwa kwemapidhi mumasero macrophage (avo vanoita basa iro rinoparadza muviri wedhaka) kunoita kuti vadzike kuvhara, "mapepa akaomeswa" maitiro anonzi pathologist anonzi "Gaucher cells".
Zviratidzo zvechirwere zvinogona kusiyaniswa nemhando dzechirikadzi dzinobatanidzwa:
- Kuunganidzwa kwemapfupa mumapfupa emapfupa, chiropa, spleen, mapapu, uye dzimwe nhengo zvinogona kutungamirira kuderedza kuderedzwa kwemasero matsvuku neropa machena ( pancytopenia ), chiropa chinoputika uye spleen, uye chirwere chemapapu chinoputika.
- Kuunganidza Gaucher masero mumapfupa emasese kunogona kutungamirira pakuonda kwechitarisiko chekunze chepfupa, pfupa, uye pfupa redu ( osteopenia ).
- Kuvhiringidzika kwemasero emagetsi muhutachiona hweganda kunogona kuita kuti kuonekwa kwechivara cheganda uye zvigadzirwa zvionekwe.
- Kuunganidzwa kwepombi mukati nepakati pese zvinokanganisa zvirwere zvinogona kukonzera kukanganisa kuvharidzirwa kwemasero emasero (myelin) uyewo masero emasero pachavo.
Mhando dzeGaucher Disease
Mhembwa yegaucher inonyatsorongedzerwa kuva imwe yemhando mitatu. Pamusana pehutano hwakasiyana-siyana hwekuchinja kweGBA, kuoma uye nzira yechirwere ichi chinogona kusiyanisa zvikuru mukati memhando imwe neimwe. Mhando dzinotsanangurwa se:
- Gaucher chirwere chinyorwa 1 (chinonziwo se-non-neuropathic Gaucher chirwere) chinonyanya kunyanya, chinotora zvikamu makumi mapfumbamwe nezviviri zvezviitiko zvose. Zviratidzo zvinowanzoonekwa mumunhu mukuru uye zvinonyanya kubata chiropa, spleen, uye bone. Uropi uye nervous system hazviratidzi kuonekwa.
- Gaucher chirwere chechipiri (chinonziwo chirwere chinonzi infaule infurole neuropathic Gaucher) chinokanganisa mumwe wevamwe vana 100 000 vana vane zviratidzo zvinowanzotanga mumwedzi mitanhatu yekuberekwa. Inobata miitiro yakawanda yechipfu, kusanganisira sangano remagetsi, uye kazhinji rinotungamirira kurufu vasati vava nemakore maviri. Nokuti vanorwara vari vaduku zvikuru, havanorarami kwenguva yakakwana kuti vawane pfupa risina kunaka.
- Gaucher chirwere chechipiri (chinonziwo chirwere chisingaperi chineuropathic Gaucher) chinowanikwa mune imwe yevabereki vose vanenge 100 000 uye inogona kukura chero nguva kubva pauduku kusvika pakukura. Inotaridzirwa sechimiro chakasimba, chinokurumidza-kufambira mberi chechimiro chevanhu 2. Vanhu vane chirongwa chema3 vanogara vachiri kuyaruka kana kuti vakura.
Zviratidzo
Zviratidzo zveGaucher zvirwere zvinogona kusiyana asi zvicharamba zvichiine imwe nhengo yeropa, spleen, kana chiropa chokubatanidzwa. Pakati pezviratidzo zvinowanzoonekwa:
- Kuneta kunokonzerwa neanemia
- Zviri nyore kuputika nekuda kwekapamusoro platelet count
- Madzi akaparadzana nekuda kwechiropa chinoputika uye spleen
- Tsvuku-tsvuku yeganda ruvara
- Dry, flaky skin ( ichthyosis )
- Kutambura kwepfupa, kurwadziwa kwakanyatsobatana, kuputika kwefupa, uye osteoporosis
Zviratidzo zvehutano zvinowanzoonekwa muchirongwa chechipiri uye chinyorwa chechirwere chetatu asi chinogonawo kuitika muchirongwa chekutanga 1. Zvinogona kusanganisira:
- Tora 1: kusagadzikana cognition uye pfungwa yekunhuwa
- Tanga 2: seizures , spasticity , apnea , uye kuchetedza mupfungwa
- Tora 3: misungo inokanganisa, kushungurudzika, kuora mwoyo , uye kusazviona kwemaziso
Vanhu vane chirwere cheGaucher vanoitawo sevanopinda mungozi ye myeloma (kenza yemaplasma masero mumapfupa emapfupa) uye chirwere chePalinson (ichocho chinowiriranawo neGBA gene mutations).
Genetic Risk
Sezvakakonzerwa nekugadzirisa zvinokonzera kuporesa, Gaucher inowanikwa apo vabereki vaviri vasina chirwere chimwe nechimwe vanogovera gadziriro yakakwana kune vana vavo. Vabereki vanoonekwa se "vatakuri" nokuti mumwe nomumwe ane rimwe rinowanzo (kanowanikwa) kopi yejeni uye imwe yakagadzikana (mutated) copy yejeni. Izvo chete kana munhu ane maitiro maviri akawandisa ayo Gaucher anogona kuitika.
Kana vose vabereki vari vatakuri, njodzi yemwana wavo yekuwana Gaucher ndeyotevera:
- 25 muzana mukana wekuwana nhaka maitiro maviri akawandisa (akabatwa)
- 50 muzana mukana weimwe yekutonga uye imwe rection gene (mutakuri)
- 25 muzana mukana wekutora maviri emagetsi makuru (asingabatsiri)
Genetics inogona kutsanangurazve njodzi yemunhu yekuva nemwana ane chirwere cheGaucher. Izvi zvinonyanya kuitika kune vaAkkenazi vaJudha vane ngozi yeGaucher inopetwa kazana pane iyo yevanhu vakawanda.
Zvinetso zvekudzivirira zvinyorwa zvinonyanya kurondedzerwa neinoti "muvambi wevanhu" umo chirwere chinotora nhaka chinogona kutarirwa kumunhu mumwechete. Pamusana pokushayikwa kwezvinhu zvakasiyana-siyana mukati memapoka aya, dzimwe shanduko dzinopfuurirwa nyore nyore kune vana, zvichiita kuti pave nematunhu akakwirira ezvirwere zvekudzivirira.
Kushandurwa kwevaAshkenazi vaJudha kunosanganiswa nerudzi rwechipiri uye kunogona kutevedzwa kusvika kare kusvika kuMiddle Ages.
Saizvozvowo, rwiyo rwechitatu runowanzoonekwa kuvanhu vanobva kuNorrbotten nzvimbo yeSweden uye rakadzoserwa kune mumwe muvambi uyo wakauya kuchamhembe kweSweden kana kuti asati asvika zana remakore rechi16.
Kuziva
Vanhu vanofungidzirwa kuti vane chirwere cheGaucher vachawana miedzo kuti vaone kutaridzika kwebhea-glucocerebrosidase muropa ravo. Nhamba dziri pasi pe15 muzana dzemazuva ose, pamwe chete nezviratidzo zvechipatara, kazhinji zvinokwana kutsigira kuongororwa. Kana pane kusava nechokwadi, ruzivo rwemagetsi rinogona kushandiswa kuzivisa GBA mutation.
Chiremba aizoitawo miedzo kuti aongorore kukanganisa kwemapfupa, spleen, kana chiropa. Izvi zvinogona kusanganisira chiropa chekushanda kwedzidzo , imwe -simba-ray X-ray absorptiometry (DEXA) kuongorora kuverenga masimba emapfupa, kana maginetic resonance imaging (MRI) scan kuti iongorore mamiriro eropa, spleen, kana marrow bone.
Treatment Options
Kana munhu ane chirwere cheGaucher chirwere 1 kana rudzi rwechitatu, kurapa kunosanganisira enzyme replacement therapy (ERT). Izvi zvinosanganisira kuburitsa maitiro e beta-glucocerebrosidase kuburikidza nekudonha kwemavara.
IU.S. Food and Drug Administration (FDA) yakagamuchira mishonga mitatu yakadaro nokuda kwekushandisa uku:
- Cerezyme (maglucerase)
- Elelyso (taliglucerase)
- Vpriv (velaglucerase)
Kunyange zvazvo ERT iri kubudirira mukuderedza ukuru hwechiropa uye chepleen, kuderedza marwadzo asina kukodzera, uye kuchinja zvimwe zviratidzo zvechirwere, zvinodhura zvikuru (zvinodarika madhora 200 000 pagore). Icho hachikwanise kudarika ropa-brain-barrier , zvinoreva kuti zvingave zvisina kubudirira mukurapa kukanganiswa kwakakomba kwehuropi.
Uyezve, nokuti Gaucher chirwere chisingawanzozivikanwi, hapana munhu anonyatsoziva kuti zvii zvinodiwa kuti zvibudirire zvakakosha kunze kwekuwedzeredza chirwere ichi.
Kunze kweEEE, mishonga miviri yemuromo yakagamuchirwa neRDA kuvhara kubudiswa kwemapidhi kune vanhu vane chirwere chechirwere 1 Gaucher:
- Zavesca (miglustat)
- Cerdelga (eliglustat)
Zvinosuruvarisa, hakuna hunobudirira hwehutano hweGaucher chirwere chechipiri 2. Kuedza kunogona kuiswa pakugadzirisa zviratidzo zvechirwere uye zvinowanzobatanidza kushandiswa kwemishonga inorwisa mabhakitiriya, mishonga inorambidza, inobatsira kupemha, nekudyisa tubhu .
Genetic Screening
Nokuti chirwere cheGaucher chirwere chakanyanya kudarika kubva kuna vabereki kusvika kune vana, vazhinji vakura havazive kuti ivo vatakuri nokuti havana chirwere pachavo.
Kana iwe uri weboka rakanyanya ngozi uye uine mhuri yeGaucher chirwere, iwe unogona kunge uine zvirwere zvekuongorora maitiro ekuziva kuti iwe unotakura chii. Zvisinei, muedzo unogona kungoona hutano hune hutano hweGBA uye hune zvingakwanisi pane zvaunogona kukuudza pamusoro pengozi yako chaiye.
Vakaroorana vane njodzi dzinonyatsozivikanwa kana kuti vanofungidzirwa vanogonawo kusarudza kuva nemaitiro ekuberekwa pakuita pamuviri kuburikidza nekubvisa masero e fetal ane amniocentesis kana chorionic villus kuongorora (CVS). Kana Gaucher ane hanya yakataurwa, kumwe kuongorora kwakajeka kunogona kuitwa kuti zviri nani kuziva rudzi rwacho.
Kana chiitiko chakanaka chidzorerwa, zvinokosha kutaura nemumwe chiremba wezveruzhinji kuti anzwisise zvakakwana zvinoratidzirwa zvinorevei uye kuti ndezvipi zvaunosarudza. Hakuchina kusarudzo kwakarurama kana kusina kunaka, kungofanana iwe pachako iwe newawakaroorana naye mune kodzero yekuvanzika uye nekuremekedza.
> Sources:
> Campbell, T. naChoy, R. "Chirwere cheGaucher uye synucleinopathies: kuchenesa ukama." Orphanet J Rare Dis. 2012: 7:12. DOI: 10.1186 / 1750-1172-7-12.
> Nagral, A. "Gaucher Disease." J Clin Exp Hepatol . 2014; 4 (1): 37 -50. DOI: 10.1016 / j.jceh.2014.02.005.
> National Gaucher Foundation. "Chii Chinonzi Gaucher Disease?" Rockville, Maryland.
> National Institutes of Health. "Gaucher disease." Genet Home Ref. Bethesda, Maryland; yakarongedzwa naJanuary 30, 2018.