Fabry chirwere: zviratidzo, kurapwa, mapikicha

The chirwere anokonzerwa kushaya rinokosha enzayemu Alpha-galactosidase A anonzi Fabry chirwere, mushure musayendisiti muzvirongwa kudzidza uye akarivhura. Kokutanga imwe mutation ari Gene kwave zvinotsanangurwa muna 1989 mu England.

Under kwomuzvarirwo ezvinhu, enzayemu ichi aripo mune zvinenge masero ose muviri uye zvinobatanidzwa kubudiswa lipids. Vanhu vanenge nhaka chakaremara Gene, pane buildup kuti mafuta zvinhu zviri lysosomes. Pakupedzisira, chirwere zvinotungamirira kuparadzwa vascular rusvingo masero uye munyama. Fabry chirwere - isingawanzowanikwi nemagene nyonganyonga, hunonziwo "zvirwere lysosomal chekuchengeta".

zviratidzo

The chirwere, maererano zvokurapa pakuongorora, anotanga kuoneka vakuru nevana vari pre-uye kuyaruka.

Symptomatology chirwere riri sezvinotevera:

• Kupisa uye soreness zvisaitike wamativi, kuwedzerwa mumuviri nesimba uye kuonana inopisa. Marwadzo kunowanzoguma munhu kwokupisa inoti.
• Kuneta. Kakawanda, Zviratidzo izvi achiperekedzwa yakaderera mwoyo, kufunganya, Kufunganya. Varwere kunzwa kufara kuderera uye kushaya chivimbo muna nemano avo, izvo zvinoderedza zvikuru mararamiro.
• Ungaderedza iratidzike seiri kubuda.
• Kuneta makumbo nemaoko. Man, pamwe kukura chirwere, haagoni kunyange vanhuwo zviito sezvo kusangana kugara kuneta. Pamwe inorwadza nezvekufadza zviratidzo zvakadai vanotungamira kupedza rubatsiro.
• Proteinuria. Zvakawanda zvive, achiperekedzwa yakawedzerwa mapuroteni excretion iri weti. Kazhinji chiratidzo kunokonzera kururama kuongorora chirwere.
• Education rashes ari magaro, panosangana makumbo, miromo, minwe.
• Autonomic zvirwere.

Ingangoita-muzvitatu vana panguva iyoyo pamwe chete pamusoro zviratidzo kuva kwemajoini syndrome. Child zviitiko kukura tsandanyama marwadzo, kuderera muchiratidzo, kushaya zvemwoyo muviri. Sezvo kuchiita enzayemu kushaikwa ari kuchengetwa cheitsvo, cheBP. Kunyange zvakadaro vana chirwere kwakadaro kwava kushoma chaizvo, nokuti ndizvo kukosha kwose kuzoitawo nenyanzvi nzvimbo kuti miedzo ropa panguva majini chechetere.

Ndiani nhaka chirwere?

Vanhu vazhinji vanoshamisika kuti Fabry chirwere kunoratidza pacharo, chii ichocho? Maererano zvidzidzo, vanachiremba vava zvinotevera mhedziso:

• The chirwere unogona kuva munhu, zvisinei chechikadzi.
• Majini anokonzera kukura maperembudzi vemunyika mune X-chromosome. Varume vane chete X-chromosome, uye kana rine njodzi Gene, mukana dzichiri zviratidzo chaizvo. Munhu haagoni kuparadzira chirwere vanakomana, asi vanasikana vake vose nhaka kuremara ichi.
• Vakadzi vane miviri X-okutodza, saka ndingangokuvara kuparadzira chirwere kuti vana kana pabonde 50/50%.
• Zviratidzo kazhinji dzinoitika pauduku uye kuyaruka, uyewo vechidiki.
• The chakaremara Gene unowanika rimwe 12 000 kuzvarwa vachirarama, kuti kwava kushoma.

chirwere chirwere

Rairira chirwere nyore nokuti chirwere hariwanikwi uye inoratidza yose-siyana yokuora zviratidzo. Varwere vanofungidzirwa Fabry chirwere panoongororwa ne vanachiremba akasiyana zvekuchipatara munzvimbo.

Practical zvinoratidza kuti pakati pokuiswa zviratidzo uye yokupedzisira zvokuongorora Paavhareji zvinotora anenge 12 makore. Zvakakosha chaizvo kuti ndisimbise chirwere sezvo mangwanani sezvo zvichiita kuti kurapwa.

Dzehutano vanofanira chifungidziro kuvapo ichi nemagene lesion, kana munhu awana mubatanidzwa zviratidzo zvinopfuura maviri. Ari mucheche kuti Fabry chirwere (mufananidzo njodzi chromosome anoratidzwa pazasi), anenge hariwanikwi, saka nechirwere inogona kwakaoma.

Chirwere chirwere nevanhu

Zvinotevera Zviitiko dzinoitirwa vanhurume:

• Pedigree pachisara mazita muti. Vakapiwa nhaka yezvakaita lesion, chikuru kukosha nechirwere munhu muunganidzwa zvenhoroondo yemhuri. Asi nhengo imwe mhuri chirwere anogona kuramba harimboonekwi.
• A kudzidza pamusoro zviri enzayemu galactosidase muropa.
• DNA ongororo - rinoitwa pakuparwa zvakawanda migumisiro nokukanganisika tsvakurudzo. DNA inogona kutorwa kubva zvinhu chero vokubereka.

Fabry chirwere: chirwere kuti maronda vakadzi

Zvinotevera mabasa vakatakudzwa kubva kune hadzi chechikadzi:

• Pedigree kuongorora.
• DNA kuongorora.
• The zviri enzayemu muropa hakusi chikuru chinoratidza chirwere, izvo zviri kukonzerwa activation of asymmetric X-chromosome. Zvingava mune kuipa siyana, kunyange kana ari mukadzi ari chirwere aripo.

pamuviri kuongorora chirwere

Research kuitwa nokuyera padanho enzayemu ari fetus munyama. Izvi zvinokosha kana amai anotambura kubva nemagene chirwere, kana pane fungidziro kuti mwana anogona nhaka Fabry chirwere. Zviratidzo zviri chirwere dzinenge ndisipo pashure pokuberekwa uye anozviratidza paya muupenyu.

zvinogona yematambudziko

Kana murwere asina vakapfuura nechirwere, uye chirwere haagoni murapwe kazhinji, kukudziridza zvinotevera matambudziko:

• Chenjera renal kukundikana. Man inongogara kurasikirwa mapuroteni iri weti, kureva kuva proteinuria.
• Kuchinja chimiro uye mwoyo. Paunoteerera padzakacherechedza insufficiency mwoyo mavharuvhu, spasmodic marwadzo.
• Impairments ropa riyerere muuropi. Murwere anosangana kakawanda dzungu, kwakakomba kuomesa yokuenda sitiroko.

mabatiro

Persons vaifungidzirwa kuva Fabry chirwere vanotumirwa kune unyanzvi hwakasiyana nzvimbo, apo pane ruzivo pakurapa zvirwere lysosomal chekuchengeta. In nemasangano aya akasimbisa kuvapo zvokurwara uye rakatangwa zvakakodzera kurapa.

Kusvika 2000s, zvinokosha kuchirapa musimboti akanga zvainanga kukurira kuora ezvinhu kukura kuchiita chirwere. Panguva iyoyo, imwe nzira inoshandiswa kubatsira kubvisa kwete chete zviratidzo kuti anokonzera Fabry chirwere. Treatment chinosanganisira enzayemu yokutsiva mishonga. Varwere prescribers yeAlpha, Beta-galactosidase.

Fabry chirwere (Zviratidzo uye tsvakurudzo anobvumirwa kumisa zvakarurama zvokuongorora) riri pasi kurapwa pakarepo. Zvinonzi kuitwa jekiseni, murwere anogamuchira ose mavhiki maviri. Nzira iyi inogona chinozoiswa tichibatsirwa mukoti vari kiriniki kana kumba, kana munhu ari tsime kushivirira aizomupa. Treatment anobvumira kuti normalize muviri, anobvisa dzokororo zviratidzo, kudzivisa kukura chirwere.

Mukuru mushonga rakashandiswa kuzvitsinhanisa anonzi "Replagal." The mhinduro yakanga asunungurwa mukati ndiro 5 Rine mamiririta. Means ane tolerability zvakanaka, mune zvisingawanzoitiki zviitiko panowanikwa nemishonga: kuvaviwa, abdominal marwadzo, fivhiri.

Kana chirwere chinokonzera kurwadziwa, varwere vanogona Uyezve basa anticonvulsants, analgesics, vasiri steroidal Anti-anogumbura mumiririri.

Nyanzvi dzakawanda dzinofunga kuti zvakarurama zvokuongorora uye vabatwe Fabry chirwere vanokwanisa kuchinja kwomuzvarirwo weboka chirwere. Kushandisa kuzvitsinhanisa kunokwanisa kumisa kukura kwayo.

rabhoritari zvichiongororwa

On pakanyorwa kosi zvinokosha kuti tiite quantitative kutsunga tseramidtrigeksozida. In inobudirira kurapwa, ayo yevasungwa kunoderedza. Mune kumwe kuongorora kurapwa, kuita paakati ndiyo padanho sphingosine globotriaozil.

Majekiseni hadzina yakatarwa panguva pamuviri uye lactation, kana mukadzi haana zvimwe zvirwere varipo kukuisa pangozi upenyu.

zvabuda

Fabry chirwere - chakakomba nemagene nepfungwa achiperekedzwa marwadzo, kuwedzera kunaka upenyu uye zvichiita kuti nokukuvadzwa pamutemo vachikanganisa. A yakawanda varwere hamugamuchiri zvakakodzera kurapwa, saka havakwanisi zvinobudirira kushanda, kudzidza, chokunyunyuta pamusoro nepfungwa kushushikana, kurukutika, kuora mwoyo, kunetseka.

Kwokuomerwa zvingaratidza achiipa zuva iri kukura chirwere, uye hunotarisirwa vanhu zvaanokuita upenyu, nokuda avhareji yemakore 15 zvishoma kupfuura choruzhinji. Asi Fabry chirwere - harisi mutongo rufu, pamwe chirwere, akapa yokutsiva kurapa, anogona kurarama upenyu huzere.