Rare Disorder Genetically Linked to Certain Groups
Tay-Sachs chirwere chisingawanzovi chinonzi genetic disorder iyo inowanzovharirwa kune mamwe marudzi emarudzi. Iyo inoratidzirwa nekuparadzwa kwemasero emagetsi mukati mehutano hwehutano uye zvinogona kutungamirira kuhupofu, matsi, uye kurasikirwa kwepfungwa nemagetsi.
Tay-Sachs inoshandiswa pakuzvidzivirira kwechiremba, zvinoreva kuti chirwere chinotora nhaka kubva kuvabereki vako.
Chirwere chacho chinosanganiswa nekuchinja kwemuviri mu HEXA gene iro rine mazana anopfuura zana akasiyana. Zvichienderana nezvinoshanduka kuchinja, chirwere chacho chinogona kutora maitiro akasiyana-siyana, zvichikonzera chirwere munguva yehucheche, huduku, kana kuti munhu mukuru.
Rufu runowanzoitika kune vana mukati pemakore mashomanana ezviratidzo zvokutanga, sezvo kuparadzwa kwemasero emagetsi kunovasiya vasingagoni kufamba kana kunyange kumedza. Muchikwata chepamusoro, vana vachawedzera kukurumidza kutapukirwa. Vakawanda vanofa kubva kune zvinetso zvepineumonia kana zvimwe zvirwere zvekupema.
Kunyange zvazvo zvisingawanzoitiki muhuwandu hwevanhu, Tay-Sachs inowanzoonekwa muAshkenazi vaJudha, Cajuns yekumaodzanyemba kweLouisana, vaFrance vechiCanada vokuSouthern Quebec, uye veIrish America.
Maitiro Anokonzera Kurwara
IHeXA gene inopa mirayiridzo yekuita rudzi rwe enzyme inozivikanwa se hexosaminidase A. Iyi enzyme inokonzera kuputsa mafuta ane mafuta anonzi GM2 ganglioside.
Mune vanhu vane Tay-Sachs chirwere, hexosaminidase A haisisiri basa sezvinofanira. Pasina nzira yekuputsa mafuta aya, utachiona hunotanga kuwedzera mumasero ehutano eropi uye musipinha, pakupedzisira kuaparadza uye kutungamirira kune zviratidzo zvechirwere.
Infantile Tay-Sachs Disease
Zviratidzo nezviratidzo zveTay-Sachs zvirwere zvakasiyana kana zviratidzo zvinotanga kuitika.
Rudzi rwakanyanya kunyanya rudiki rwechidiki Tay-Sachs chirwere, zviratidzo zvekutanga zvichaonekwa pakati pemakore matatu nematanhatu. Ino ndiyo nguva apo vabereki vanotanga kuona kuti kukura kwevana vavo uye kufamba kwadzo kunononoka.
Nenguva ino, mwana anogona kunge asingakwanisi kudzoka kana kugara. Kana mwana wacho akwegura, angave akanetseka kutamba kana kusimudza ruoko. Vacharatidzawo kuwedzeredza, kutyisidzika kutendeuka kumanzwi makuru uye vangaita seasina kunyanya kana kuti lethargic. Kubva ipapo, kuora kwekuita kwepfungwa uye kwepanyama kunowanzosingaperi uye kwakanyanya.
Zviratidzo zvinowanzobatanidza:
- Kugumburwa
- Chiratidzo kurasikirwa uye upofu
- Kunzwa kurasikirwa uye matsi
- Kuderedza uye kuoma kukumedza ( dysphagia )
- Utsi hwakasimba uye kupararira
- Muscle atrophy
- Kurasikirwa kweunyanzvi nekugogodza
- Paralysis
- Rufu
Rufu, kunyange nekunakisisa kwekurapa, kazhinji kunowanikwa isati yava nemakore mana.
Pasina Maitiro Akafanana
Nepo infantile Tay-Sachs ndiyo inonyanya kumira yechirwere ichi, pane mhando dzisina kufanana dzinoonekwa muvana nevakuru. Nguva yekutanga kwechirwere ichienderana zvikuru nekubatanidzwa kwemajeni akagara nhaka kubva kuvabereki.
Pamhando mbiri dzisina kufanana:
- Chirwere cheJuvenile Tay-Sachs chinowanzoratidza zvirwere zvirwere kubva kune makore maviri kusvika kune gumi. Sezvo nevana vechidiki Tay-Sachs, kufambira mberi kwechirwere hakuregi, zvichikonzera kuora kwehutano hwekuziva, kutaura, uye kushungurudzika kwemasimba uye dysphagia uye kupararira. Rufu kazhinji runowanikwa pakati pemashanu ne15.
- Chiremba-chetatu Tay-Sachs chirwere (inozivikanwawo sevanhu vakuru Tay-Sachs) inonyanya kushamisika uye inowanzokura mune vanhu vakuru pakati pe30 ne40. Kusiyana nemamwe maitiro echirwere, kazhinji haisi kuuraya uye icharega kusimuka pashure peimwe nguva yenguva. Munguva ino, munhu angava nekuderera kweunyanzvi hwepfungwa, kusagadzikana, kutaura kwekutaura, dysphagia, kuparadzanisa, uye kunyange schizophrenia-se psychosis. Vanhu vanononoka-kutora Tay Sachs vanogona kuvharwa zvachose uye vanoda nguva yakazara yevasimbe.
Genetics uye Nhaka
Sezvakaita chero upi noupi hutachiona hwehutano hwakanaka, Tay-Sachs inowanikwa apo vabereki vaviri vasina chirwere chimwe nechimwe vanogovera retre gene gene .
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 Tay-Sachs anogona kuitika.
Kana vabereki vose vari vatakuri, mwana ane 25 mukana wekodzero yekuwana maitiro maviri ekuzvidzivirira (uye kuwana Tay-Sachs), 50 muzana mukana wekuwana imwe yakanyanya uye imwe yero retero (uye inotakura), uye 25 muzana mukana yekuwana maitiro maviri makuru ejeni (uye kuramba asingabatsiri).
Nemhaka yokuti kune kusiyana kwakasiyana-siyana kweHeXA mutation, kusiyana kwakasiyana-siyana kunogona kupedzisa zvinoreva zvinhu zvakasiyana zvakasiyana. Mune zvimwe zviitiko, kusanganiswa kuchapa kukurumidza kufambira mberi nekukura kwechirwere chetachiona uye, pane dzimwe nguva, gare gare inotanga uye inononoka kufambira mberi kwezvirwere.
Kunyange zvazvo masayendisiti ari pedyo nekunzwisisa kuti kuwirirana kunoratidzei kuti ndeapi maitiro echirwere ichi, kune zvimwe zvipuka zvakakura mumararamiro edu ekugadzirisa Tay-Sachs mune zvayo zvose.
Njodzi
Sezvisingakoshi saTay-Sachs ari munharaunda yevanhu vakawanda-inoitika munharaunda imwe yevamwe vanhu vanenge zviuru makumi matatu nezviviri zvevana-kune humwe huwandu huri pangozi yakakwirira zvikuru.
Ngozi inonyanya kudzivirirwa kune avo vanonzi "muvambi wevanhu" umo mapoka anogona kutevera midzi yechirwere kudzokera kune imwechete, madzitateguru. Pamusana pokushayikwa kwezvinhu zvakasiyana-siyana mukati memapoka aya, dzimwe shanduko dzinopfuurirwa nyore nyore kune vana, zvichiita kuti pave nematunhu akakwirira ezvirwere zvekudzivirira.
Ndiina Tay-Sachs, tinoona izvi nemapoka mana akajeka:
- VaAshkenazi vaJudha vane ngozi yakawanda yeTay-Sachs, uye mumwe wevanhu vose 30 vari kutakura. Mhando chaiyo yekuchinja mutema yakaonekwa mukati mevanhu (inonzi 1278insTATC) inotungamirira kumwana wechidiki Tay-Sachs chirwere. MuUnited States, chimwe chevana 3,500 veAshkenazi vachakanganiswa.
- Cajuns iri kumaodzanyemba kweLouisana vanobatwawo nekuchinja kwakafanana uye vane unhu huwandu hwematambudziko. Masayendisiti ave akakwanisa kutsvaga madzitateguru evatakuri kudzokera kuzana remakore rechi18 kune mumwe muvambi wekutanga muFrance vakanga vasiri vaJudha.
- VaFrance vechiCanada muQuebec vane mungozi yakafanana saKajuns neAshkenazi vaJudha asi vanokanganiswa nezviviri zvisingatauriki. Pakati pehuwandu hwevanhu, imwechete kana kuti misi miviri inotendwa inofanirwa kuti yakaunzwa kubva kuNormandy kana Perche kusvika kune imwe nyika yeNew France imwe nguva yakapoteredza zana remakore rechi17.
- Vanhu veIreland America havawanzovhiringidziki asi vachiri nevanenge vakakomberedzwa mune imwe mukana 50 yekuva mutakuri. Ngozi inowanikwa kuva yakakura pakati pemadzimai vane vana vanamai vatatu veIrish pakati pavo.
Kuziva
Kunze kwechiratidzo nemagariro ehutano hwechirwere, chimwe chezviratidzo zvinotaurira vana nderechinhu chisingaoneki chinonzi "cherry spot". Mamiriro acho, anozivikanwa nehova, tsvuku tsvuku pamusoro wetina , inowanikwa nyore nyore panguva yekuongorora kwemaziso. Nzvimbo yeruchiva inowanikwa kune vose vacheche vane chirwere cheT Tay-Sachs pamwe nevamwe vana. Hazvionekwi kuvanhu vakuru.
Kubva pane zvakaitika mumhuri uye kuonekwa kwezviratidzo, chiremba achasimbisa kuongororwa nekuronga kuongorora ropa kuti aongorore mazinga e hexosaminidase A, iyo inogona kuva yakaderera kana isipo. Kana paine kusava nechokwadi kupi pamusoro pekuongororwa, chiremba anogona kuita chiedza chekuberekwa kuti ave nechokwadi chekuchinja kwe HEXA .
Kurapa
Hakuna mushonga weTay-Sachs chirwere. Kurapa kunonyanya kunyorerwa kutungamirirwa kwezviratidzo, izvo zvinogona kusanganisira:
- Kurwisa-kugunura mishonga yakadai se gabapentin kana kuti lamotrigine
- Mishonga inorwisa mabhakitiriya kunodzivirira kana kubata chirwere chinopisa
- Chifu chechipiotherapy kuporesa kuporesa kusanganisa
- Kurapa kwepanyama kuchengetedza majoini kuchinja
- Mishonga yakadai sa trihexyphenidyl kana glycopyrrolate kuti igadzire kugadzirwa kwemate uye kudzivirira drooling
- Kushandisa mabhodha echeche akagadzirirwa vana vane mafuro ekubetsera kuti vabatsire pakuedza
- Tsvina inozorodza se diazepam kuti ubate kuoma uye kupwanya
- Kudyisa mabhesi kunogona kuponeswa kuburikidza nemhino ( nasogastric ) kana kuputirwa mukati momuviri (percutaneous endoscopic gastrostomy, kana PEG tube)
Kunyange zvazvo chirwere chejeni uye tsvakurudzo yekushandura remapirisa ari kuongororwa senzira yekurapa kana kuderedza kufambira mberi kweTay-Sachs chirwere, vakawanda vari mukutanga kwepakati pekutsvakurudza.
Kudzivirira
Pakupedzisira, nzira chete yekudzivisa Tay-Sachs ndeyekuona vakaroorana vari pangozi yakawanda uye vanovabatsira pakuita sarudzo dzakakodzera dzokubereka. Zvichienderana nemamiriro ezvinhu, kupindira kunogona kuitika kare kana panguva yekudzivirira. Mune zvimwe zviitiko, pangava nehutsika kana hwemitemo yekutsika.
Pakati pezvaunogona kuita:
- Panguva yekudzivirira, amniocentesis kana chorionic villus sampling (CVS) inogona kushandiswa kutora masero e fetal for test gene. Vakaroorana vanogona kusarudza kana kubvisa pamuviri zvichienderana nemigumisiro.
- Vakaroorana vari kuitika mu vitro fertilization (IVF) vanogona kuita kuti mazai akaberekwa awane maitiro asati agadzirwa. Nokuita kudaro, vaviri vacho vanogona kuva nechokwadi chokuti mazai ane hutano chete anotamirwa muchibereko. Kunyange zvazvo ichishanda, IVF inoshandiswa zvikuru.
- Mune dzimwe nzvimbo dzechiJudha dzechiJudha, boka rinonzi Dor Yeshorim rinoita zvisingazivikanwi kuongorora kweTay-Sachs chirwere kuchikoro chesekondari. Vanhu vanowanikwa kuongororwa vanopiwa nhamba yekutora mazita matanhatu. Apo pavanowana munhu angada kuroorana naye, vaviri vacho vanogona kudana hotline uye vanoshandisa nhamba dzavo dzeAIDS vachiongorora "kushamwaridzana" kwavo. Kana vose vari vatakuri, vangadai vakasarudzwa se "vasingawirirani."
Shoko Rinobva
Kana uchitarisana nechiitiko chakanaka cheTay-Sachs chirwere-sekutakura kana kuti mubereki-zvakakosha kutaura nemumwe chiremba anyanzvi kuti anzwisise zvakanzwisisika zvinorevei uye kuti chii chaunosarudza. Hapana kana kusaruramisa kana kusarudzo kwakarurama, kungofanana iwe pachako iwe neyemukodzani mune kodzero yekuchengeta zvakavanzika uye kuremekedza.
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