Unoziva nezvechirwere cheSandhoff here? Ngatitaurei nezvechirwere ichi chisingawanzoitiki!

Wakambonzwa nezvechirwere chinoshamisa uye chisingawanzoitiki here? Dzimwe nguva vacheche vanoberekwa vaine hutano, asi mushure memwedzi mishoma, vanochinja kukura kwavo. Nhasi tichataura nezvechimwe chirwere chisingawanzoitiki asi chakakomba chinonzi chirwere cheSandhoff . Zita iri ringave idzva kwauri. Asi zvakakosha kuziva nezvacho, kunyanya kana mumwe munhu mumhuri medu aine chirwere ichi.

Chii chinonzi Sandhoff Disease?

Zvichitaurwa zviri nyore, chirwere cheSandhoff chirwere chisingawanzoitiki chinoparadza masero etsinga muuropi hwedu nemumusana . Chinowanzoonekwa muhucheche. Kureva kuti, mwana anotanga kuratidza zviratidzo mukati memwedzi mishoma yekuzvarwa. Zvisinei, kashoma, chirwere ichi chinogona kuonekwa muhudiki kana kuti muhukuru.

Kutaura chokwadi, ichi i'lysosome storage disorder '. Zvino ungave uchishamisika kuti aya malysosome chii. Fungidzira kuti sero rega rega mumuviri wedu rine 'nzvimbo diki yekuchengetedza marara' mukati maro. Tinodaidza aya kuti 'lysosomes' . Mukati memalysosome aya mune marudzi akawanda emaenzyme. Basa remaenzyme aya nderekuputsa, kugaya, uye kuchenesa marudzi akasiyana-siyana emamorekuru anopinda musero.

Vanhu vane chirwere cheSandhoff havagadzi enzyme yakakosha inonzi beta-hexosaminidase yakakwana. Pasina enzyme iyi, mamwe marudzi emafuta, anonzi lipids , anotanga kuungana mukati memasero. Zvakafanana nemarara asingabviswi. Kana mafuta aya akaungana zvakanyanya, anokuvadza uropi nemamwe masisitimu emuviri. Zvinosuwisa kuti, chirwere ichi chinowanzo konzera rufu vachiri vadiki.

Chirwere cheSandhoff chinozivikanwawo sechirwere chakakomba cheTay-Sachs, chimwe chirwere cheLysosomal.

Chirwere cheSandhoff hachiwanzoitiki kangani?

Ichi chirwere chisingawanzoitiki . Zvinonzi munhu mumwe chete pavanhu miriyoni ndiye anorwara nechirwere ichi. Saka hazvishamisi kuti ndakanga ndisati ndambonzwa nezvacho.

Ndiani ari panjodzi huru yekubatwa nechirwere ichi?

Nekuti chirwere cheSandhoff chirwere chinokonzerwa nemajini, kana mumwe munhu mumhuri yako aine chirwere ichi, uri panjodzi huru yekubata chirwere ichi . Zvakare, chirwere ichi chinowanikwa zvakanyanya mune mamwe mapoka emadzinza. Izvi zvinosanganisira:

• Vanhu vechiJudha vechiAshkenazi
• Vanhu vechiCreole vekuchamhembe kweArgentina
• Vanhu vekuEastern Europe
• Vanhu vekuRebhanoni
• MaIndia eMetis muSaskatchewan, Canada

Izvi zvinoreva kuti kana dzinza rako riine hukama nemapoka aya, panogona kunge paine njodzi diki. Asi yeuka, izvi hazviwanzoitiki.

Chikonzero cheizvi chii?

Chii chinokonzera chirwere cheSandhoff?Zvinokonzerwa nekuchinja-chinja kwejini kunonzi HEXB. Jini ibhuku diki rinochengeta ruzivo mumuviri wedu. Kana paine chikanganiso, kana kuti kuchinja, mujini iri reHEXB, muviri haugone kugadzira enzyme yakakwana ye beta-hexosaminidase. Pasina iyi enzyme, muviri haugone kuputsa mamwe marudzi emafuta. Zvadaro mafuta iwayo anoungana kusvika padanho rine chepfu, kunyanya mumasero etsinga dzeuropi nemuzongoza.

Ndezvipi zviratidzo zvechirwere ichi?

Chirwere cheSandhoff chinowanzoonekwa muvacheche . Vanoratidzika sevane hutano hwakanaka pakuzvarwa, asi vanotanga kuratidza zviratidzo pakati pemwedzi mitatu kusvika mitanhatu yekuzvarwa . Zviratidzo izvi zvinosanganisira:

• Kusakura zvakanaka kwemapfupa : Kusakura zvakanaka kwemapfupa.
• Kufamba kusinganzwisisike : Paunofambisa makumbo ako kana kuedza kufamba, zvinhu zvinoitika nenzira inoshamisa uye isingachinji.
• Mavara e "Cherry-red" mumaziso : Paunotarisa mukati meziso, unogona kuona donda dzvuku rakafanana neruvara rwecherry. Ichi chiratidzo chechirwere ichi.
• Kukura kwemusoro (macrocephaly) kana kukura kwenhengo dzemukati (organomegaly) : Nhengo dzemuviri, kunyanya chiropa nespleen, dzinogona kukura kupfuura zvakajairika.
• Mhinduro yekushamisika : Mwana anotanga uye anotya kunyange kana ruzha rudiki diki rwasvika.
• Zvirwere zvekufema zvinogara zvichiitika : Izvi zvinoreva kuti zvirwere zvine chekuita nemapapu zvinoitika kakawanda.
• Kunonoka kukura kwehunyanzvi hwekufamba kwemuviri : Zvinhu zvakaita sekukambaira, kugara, uye kukunguruka zvinozoitika mushure menguva yevamwe vacheche.
• Kushaya simba kwetsandanyama, kuoma kudzora tsandanyama (ataxia) kana kusvetuka-svetuka kwetsandanyama (myoclonus) : Kunzwa kushaya simba, kurasikirwa nepfungwa dzakanaka, uye dzimwe nguva kusvetuka-svetuka kwetsandanyama.

Kana chirwere cheSandhoff chikanyanya, vacheche vanowanzosangana nezvinotevera:

• Kurasikirwa nekunzwa
• Kuremara kwepfungwa
• Kuoma mitezo
• Pfari ( pfari )
• Kurasikirwa nekuona
• Zvinosuwisa kuti rufu rwacho rwava mudiki .

Kashoma, vamwe vanhu vanogona kubatwa nechirwere cheSandhoff vachiri vadiki kana kuti vakuru. Zviratidzo zvacho zvakafanana, asi kazhinji hazvina kunyanya kuipa sezvakaita vacheche.

Chirwere ichi chinoonekwa sei?

Vanachiremba vanoongorora chirwere cheSandhoff nekufunga nezvezvinhu zvinotevera:

• Kuongorora zviratidzo uye kuti zvakatanga riini : Unofanira kukurukura zvakadzama nachiremba pawakatanga kuona shanduko mumwana wako uye kuti zviratidzo izvozvo chii.
• Kukurukura nezvenhoroondo yemhuri uye dzinza : Zvakakosha kuziva kana paine munhu mumhuri yako ane zvirwere izvi uye kana dzinza rako rine hukama nemapoka emadzinza ataurwa pamusoro apa.
• Kuongororwa kwemuviri: Chiremba anoongorora mwana.
• Kuongororwa kweropa : Kuongororwa kweropa kunoitwa kuti kuonekwe kana beta-hexosaminidase enzyme isina kukwana kana kuti isipo zvachose.
• Kuongororwa kwemajini : Kuongororwa kwemajini kunoitwa kuti kusimbiswe kana HEXB gene mutation iripo.

Ndezvipi zviri kurapwa?

Zvinosuwisa kuti hapana mushonga wechirwere cheSandhoff . Mishonga iripo parizvino inotarisa pakuderedza zviratidzo uye kubatsira varwere kuti vagare vakasununguka sezvinobvira. Izvi zvinogona kusanganisira:

• Mishonga inorwisa pfari inodzora pfari dzine pfari.
• Kupa chikafu chakanaka .
• Kuchengetedza mvura yakakwana mumuviri.
• Kubatsira kuchengetedza nzira yekufema yakavhurika (kuderedza matambudziko ekufema).

Kunyange hazvo pasina mushonga usingaperi wechirwere ichi, vanachiremba nevaongorori vari kutsvaga mishonga mitsva nguva dzose. Ndiyo tariro huru.

Kune nzira dzakasiyana-siyana dzekurapa dziri kuongororwa parizvino uye dzinogona kubatsira mune ramangwana:

• Kuisirwa mapfupa emongo
• Kurapa majini : Izvi zvinoedza kugadzirisa majini asina kunaka.
• Kurapa kwekuderedza substrate : Izvi zvinosanganisira kushandura mamorekuru ane chekuita nechirwere uye kuyedza kumisa kufambira mberi kwechirwere.
• Kurapa nemasero estem

Zvakakosha kuti mhuri dzine chirwere cheSandhoff dzitaure nenyanzvi dzezvemajini kana vapi vemazano ezvemajini . Vanogona kubatsira kusarudza kana paine mumwe munhu mumhuri anofanira kuongororwa kuti ane majini aya here kana kuti kwete.

Remangwana revanhu vane chirwere ichi rakaita sei?

Kutaura chokwadi, ramangwana revanhu vane chirwere cheSandhoff harina tariro, uye nguva yekurarama ipfupi . Kana vacheche vakawana chirwere ichi, mamiriro avo anokurumidza kuipa uye vanofa pazera remakore matatu kana mana. Kazhinji, zvinokonzerwa nematambudziko anokonzerwa nezvirwere zvekufema. Ndinoziva kuti izvi zvinosuwisa kunzwa.

Tinogona kudzivirira chirwere ichi here?

Zvinosuwisa kuti hapana nzira yekudzivirira chirwere cheSandhoff nekuti chine chekuita nemajini. Zvisinei, nyanzvi dzezvemajini nevapi vemazano ezvemajini vanogona kukubatsira kuona kana mumwe munhu mumhuri mako ari panjodzi yekubatwa nechirwere ichi. Ruzivo irworwo runogona kubatsira, semuenzaniso, pakusarudza kana uchida kuva nevana.

Kana mwana wangu aine chirwere cheSandhoff, chii chandinofanira kubvunza vanachiremba?

Kana mwana wako akaonekwa kuti ane chirwere cheSandhoff, unogona kubvunza vanachiremba mibvunzo yakaita seiyi:

• Rudzii rwekuremara rwatingatarisira?
• Hupenyu hwemwana weduZvichave zvakadii?
• Tinofanira kuona nyanzvi dzerudzii ? Tinofanira kuvaona kangani?
• Ndingachengetedza sei mwana wangu akasununguka ?
• Vamwe vemhuri vanofanirawo kuongororwa majini here?

Ndeipi nzira yakanakisisa yekurapa chirwere cheSandhoff?

Pane zvinhu zvakawanda zvinogona kukubatsira iwe nemhuri yako kutsungirira mamiriro ezvinhu akaoma aya:

• Kupa Mazano : Kupa mazano kuchakubatsira kuti urambe wakasimba mupfungwa uye utsungirire kushungurudzika uku.
• Kubatana nemasangano anotsigira varwere uye tsvakurudzo.
• Mapoka ekutsigirana : Mapoka aya anobatsira zvikuru pakutaura nevamwe vabereki vari kusangana nemamiriro ezvinhu akafanana newe uye kugovana zvakaitika.

Chirwere cheSandhoff chirwere chisingawanzoitiki chinokonzera mafuta kuungana kusvika pahuwandu hwechepfu mumasero etsinga muuropi nemumusana. Vana vane chirwere ichi vanotanga zviratidzo zvakakomba uye vanofa vachiri vadiki. Tsvagiridzo iri kuenderera mberi kuti tinzwisise chirwere cheSandhoff uye nzira dzachinogona kurapwa nadzo.

Mharidzo Yekupedzisira Yekuenda Kumba

Ndinovimba manzwisisa zvatakurukura nezvechirwere cheSandhoff. Zvinhu zvakakosha zvekurangarira ndeizvi:

• Ichi chirwere chisingawanzoitiki chemajini .
• Izvi zvinokonzera kukuvara kwemasero etsinga , kunyanya muhucheche.
• Chikonzero chikuru ndechekushomeka kwe enzyme beta-hexosaminidase .
• Hapasati pave nemushonga wechigarire , asi kune mishonga yekudzora zviratidzo uye kupa nyaradzo.
• Kutsvagurudza kuri kuitika kunogona kutipa tariro yeramangwana.
• Kana mumwe munhu mumhuri yako aine njodzi iyi, zvakakosha zvikuru kutsvaga mazano ezvemajini .
• Mumamiriro ezvinhu akadai, kuwana rubatsiro rwepfungwa nerutsigiro zvichave simba guru kwauri nemhuri yako.

Kana ruzivo urwu rwakakubatsira, zvakanaka. Kana uine mimwe mibvunzo nezvenyaya iyi, usazeza kutaura nachiremba.

" Chirwere cheSandhoff, chirwere cheSandhoff, zvirwere zvemajini, masero etsinga, beta-hexosaminidase, chirwere chekuchengetedza lysosomal, zviratidzo zvemwana asati aberekwa, kuyedzwa kwemajini."