Wilson-Konovalov chirwere muvakuru

Chimwe chezviratidzo zvinonyanya kuzivikanwa zvechirwere ndeye pathological kuunganidzwa kwemhangura munzvimbo yenhengo dzakasiyana-siyana, kukuvara kwenyama, kunyanya chiropa, matambudziko ehurongwa hwetsinga, shanduko muiris yeziso.

Chii chinonzi Wilson-Konovalov chirwere?

Izwi rokuti Wilson-Konovalov's disease inhaka yehutano. Zvinoitika kana vabereki vakapfuudza jena rakaremara (ATP7B) kumwana wavo. Mamiriro acho anoreva autosomal recessive pathologies, ndiko kuti, inoitika kana mumwe nemumwe wevabereki akatakura jena rakafanana mumasero avo uye mwana anotora magene ese kamwechete - kubva kuna amai uye kubva kuna baba.

Iri jena rakaremara rinopa mirairo yekuumbwa kweprotein inogadzirisa kuchinjana uye kutakurwa kwemhangura mukati memuviri. Nekuremara kwayo, mhangura inoungana muchiropa, inoisa mutsinga ganglia, uye inoiswa muiris yeziso. Pathology haina kujairika, dzimwe nguva zvakaoma zvikuru kuziva, kunyanya kana pasina varwere vakadaro mumhuri.

Zvikonzero zveWilson-Konovalov chirwere muvakuru

Nzira yakakosha mune iyi pathology inhaka yejeni rakaremara kubva kuvabereki. Inowanikwa pane 13th chromosome uye inogadzirisa metabolism yemhangura.

Paavhareji, muviri wevakuru une angangoita 50-70 mg yemhangura uye haidi inopfuura 2 mg yechinhu pazuva, chinobva muchikafu.

Iyo yakawanda yakawanda ye microelement (95%) inotamiswa muhukama hwepedyo neprotein yeplasma, ceruloplasmin. Iyo inogara ichiumbwa nechiropa, uye inenge 5% chete yemhangura inotakurwa pamwe chete nealbumin.

Mhangura inodiwa kutora chikamu mune metabolic maitiro, kusanganisira oxidative. Kana chirwere chaWilson chichikura, kubuda kwayo kunovhiringidzika, kuwedzera mu plasma kunowedzera, kubva ipapo kunopararira kune matishu. Iko kuunganidza kukuru kwemhangura kunoitika muuropi, munharaunda yeiris, mukati mechiropa, uyewo muitsvo. Kuwandisa kwe microelement kune chepfu.

Zviratidzo zveWilson-Konovalov chirwere muvakuru

Zvinogoneka zviratidzo zvakasiyana kwazvo. Kazhinji kazhinji, chiropa chinotambura (inenge 40 - 50% yezviitiko), uye mune dzimwe nguva, maronda europi uye matambudziko epfungwa anogona kuonekwa. Nekukuvadzwa kwehurongwa hwetsinga uye chiono, chiratidzo chinowanzoitika - kuratidzwa kwemhete yeKaiser-Fleischer (inoitika nekuda kwekuiswa kwemhangura muiris neyakaomeswa brown staining).

Muchirwere chedumbu chechirwere, zviratidzo zvinowanzoonekwa pedyo nezera remakore makumi mana.

• cirrhosis yechiropa;
• chisingaperi kana fulminant (fulminant) hepatitis.

Muhuduku, iyo yakaoma-arrhythmohyperkinetic yakasiyana yechirwere inoitika kakawanda. Kunotanga nekuoma (kutsikirira, kusateerera zvakanaka) kwetsandanyama, kukanganiswa kwechiso, kusagadzikana kwekutaura, matambudziko ekuita mafambisirwo anoda hunyanzvi hwemotokari, uye kumwe kuderera kwenjere. Chirwere chacho chinopfuurira zvishoma nezvishoma, nenguva yekuwedzera uye kuregererwa.

Musiyano wekuzunungusa chirwere chaWilson chinowanzoitika pakati pemakore gumi kusvika makumi matatu kusvika makumi matatu nemashanu emakore. Panogona kuva nezviratidzo zvakadai sekudedera, kuderera kwekufamba, kutadza kutaura, kubatwa nepfari, matambudziko epfungwa.

Nzira isingawanzoitiki yechirwere ndeye extrapyramidal-cortical disorders. Izvo zvakafanana nemhando dzose, mukuwedzera pachava nekugumburwa kwekugumburwa, matambudziko makuru epfungwa, kusagadzikana kwekufamba.

Kurapa kwechirwere cheWilson-Konovalov kune vanhu vakuru

Kukurumidza kuongororwa kwakakosha pakurapa kunoshanda. Izvi hazvisi nyore nguva dzose, kunyanya mumamiriro ezvinhu apo pasina zviratidzo zvinowanzoitika uye maronda eiris ane chitarisiko chemhete. Kazhinji kazhinji, varwere vanouya kune weurologist, gastroenterologist, kana dambudziko rinoonekwa neophthalmologist.

Diagnostics

Kana isu tichitaura nezve kuratidzwa kwezviratidzo zveziso, chiremba anotanga kuongorora mamiriro emeso nemwenje wakatsemuka kuitira kusimbisa kuvepo kweKaiser-Fleischer mhete.

Kugadzwa kwekuongorora kwebiochemical yeropa uye urini kunoratidzwa, izvo zvicharatidza kuwedzera kwemhangura mumuguta uye kuderedzwa kwe ceruloplasmin muropa replasma.

CT kana MRI icharatidza maitiro atrophic muuropi uye cerebellum, kukuvadza kune basal nuclei.

Pamusoro pezvo, kubvunzana naana geneticist uye akati wandei ma genetic test anoona akaremara majini anoitwa.

Mishonga yemazuva ano

Nzira huru yekurapa chirwere ichi ndeyekugadzwa kwemishonga yetiol, kunyanya unithiol kana D-penicillamine, cuprenil. Mishonga inotorwa kwenguva yakareba, chiremba anosarudza iyo yakanyanya kunaka dose, iyo ichadzivisa migumisiro.

Uyezve, chiremba anogona kushandisa zvinodhaka kubva muboka reurouroleptics, ine tsandanyama rigidity - levodopa kana carbidopa.

Mumatambudziko akaoma, kuiswa kwechiropa uye immunosuppressive therapy inoratidzwa. Zvinogoneka kushandisa biohemoperfusion ine yakasarudzika yehupenyu cellular maelementi espleen nechiropa.

Uyezve, zvinodikanwa kutevera kudya kunze kwezvokudya zvine mhangura yakawanda.

Kudzivirirwa kwechirwere chaWilson-Konovalov muvakuru kumba

"Nekuda kwekudzivirira pathology," anodaro. chiremba wetsinga Valentina Kuzmina, - zvakakosha kuomerera kune kudya Nhamba 5, uyewo kuderedza kudya kwemhangura kusvika 1 g pazuva - kusabvisa marimu, michero yakaomeswa, chokoti, crayfish, mabhisikiti, gorosi rose. Inokurudzirwawo kutora mishonga yevhitamini B6 boka, unithiol, trientine.

Mibvunzo nemhinduro dzakakurumbira

Takataura nezvematambudziko echirwere cheWilson-Konovalov, matambudziko ayo uye mukana wekuzvirapa wega. chiremba wetsinga Valentina Kuzmina.