Hunter chirwere - isingawanzowanikwi nemagene chirwere

In mushonga, pane nhamba yose zvisingawanzoitiki zvirwere, zvinosanganisira uye Hunter syndrome (Mucopolysaccharidosis mhando 2), izvo Somuenzaniso, chete anenge 50 vanhu achirwara Russia. The chirwere kuvabereki uye wabva amai kusvika vakomana. All hwake amai angasava ziva kuti ndiyo mutakuri ukama Gene. The ndingangokuvara Kuberekwa mwana pamwe zvokurwara vakadzi ava - 50%. Asi zvinogona kuitika neapo (apo neapo) mutation ari majini ari mudumbu, asi vabereki vasina abnormalities.

Hunter urwere, kuti mashandiro okukura

Muvanhu pane zviuru metabolic yakasiyana pezvakaitwa kuti pave "tsvina zvinhu" ndiyo goho kunze. Apo Hunter chirwere akambokanganiswa Exchange mucopolysaccharides (glycosaminoglycans) zvisina kuratidzwa, asi kuunganidza zvose nyama dzomuviri. Izvi imhaka yokuti hapana enzayemu iduronatsulfataza. Zviri pachena kuti mumamiriro ezvinhu akadaro kuti nhengo uye hurongwa kurega ishande zvakanaka, pane kutyorwa.

Hunter urwere, chiremba mufananidzo

Kumboda zviratidzo vanotanga kuonekwa chete pashure maviri matatu, vana vakaberekwa vari kuipa, uye vabereki vasingazivi chirwere yavo. Chiso zvinhu zvinova zvinonyadzisa inzwi, zvakare, kufema inova ruzha, uye mwana anotanga vanorwara kakawanda kufema zvirwere zvinokonzerwa nemavhairasi. The pakuonekwa mukomana ndechokuti gobvu ganda kumeso, pfupi mutsipa, isingawanzowanikwi mazino, makobvu miromo, rurimi uye mhuno. vana vose Hunter chirwere ndiko saka chakafanana mumwe, kuti vari kutora hama.

Mushure mbudzana nhatu kana ina makore anova zvakaoma kufamba, kuomarara pakati mapfundo kuva, anorasikirwa kufambisa, anogona kuwira. The yose skeletal hurongwa ari kuchinja.

Tangai zvinetso zviri psyche, mwana anogona kuva akatsamwa kana hasha. Vamwe vana nematanga. Unyanzvi kuti mwana awana kuti zera ravo, vakarasika. Anova kuzvibatsira, hauchafambi kutaura.

Anenge varwere vose zvarinoita mwoyo, metabolic chigadzirwa rinoungana iri mavharuvhu, zvichiita kuti thicken. In kuyaruka, kuchinja ndivo imperceptible, mavambo kutyorwa rwunoverengerwa kuti akura.

Kune akasiyana zviviri: A Hunter nehosha zviratidzo uye B. In wokutanga chimiro, kufambira mberi nokukurumidza, kunouya mupfungwa retardation, uye chimiro wechipiri nyore kana mwana akatiponesa njere. Zvichienderana Chirwere upenyu hunotarisirwa vanhu vanogona kusvika makore 50-60. Zvisinei, pamwe kwazvo marudzi avana kurarama makore 8-9.

chirwere chirwere

Akakodzera musiyano wezvinyorwa kuziva miedzo enhaka zvirwere - zvidzidzo majini of mudumbu. Asi kuongorora kwakadaro hakusi, saka, haabatanidzi pre-kushoma nepfungwa hazvibviri.

Mune weti wevarwere yakaratidza yakawanda heparan sulfate uye dermatan.

X-ray Mufananidzo skeletal ino - vakawanda dysostosis (anomalies pakati skeletal pakukura).

Hunter urwere kurapwa

Drug nokuti pakurapa mucopolysaccharidosis mhando 2 kunge synthesized uye ndicho chinhu chisipo enzayemu. "Elapraza" rinoreva nzira. Zvisinei, zvinoita kuwana kwete varwere vose, zvinodhaka mari ndiwo zvinodhura chaizvo uye zvinowanikwa chete kunze.

Treatment vana vane Hunter chirwere inofanira kubhadharwa nehurumende, asi zviremera akaramba navo, sezvo wepagore kudyiwa pamunhu akafanana kuti bhajeti yokuzvigadzirisa yose kiriniki. Asi kurapwa vana ava kuti upenyu, unogona kuenzaniswa chirwere cheshuga mishonga kana munhu nguva dzose anofanira jekiseni. Munhu wose anoziva kuti pasina jekiseni shuga havazorarami refu, mamiriro chete uye zvokurwara ichi. Vabereki vachiri kubata zvimwe kuwana mushonga (Sponsors, rudo), vanoti mwana ari nani, kutanga kufamba zvakare uye kurarama zvakawanda zvakajairika muupenyu.