Zvaakazoita Gaucher: zvikonzero uye kurapwa

Zvaakazoita Gaucher - chirwere nemagene hunhu, iyo inobva kushaya ane enzayemu munyaya metabolic pezvakaitwa panguva cellular chechetere. With kukura chirwere pane inotungamirwa pathological sero kuwanda mu nyama uye nhengo dzomuviri.

Nhoroondo Pfupi

Zvaakazoita Gaucher - chii? The chirwere yakatanga kuzivikanwa shure muna 1882, apo chiremba wokuFrance Philippe Gaucher Charles akatsanangura zviratidzo ake ari kushivirira awanda chirwatata.

Muna 1924, vanachiremba vakakwanisa synthesize mumwe mafuta chete zviri masero kanganisika, nokudaro pokubatana pfungwa chikuru causative mutumwa chirwere.

Muna 1965, nyanzvi weAmerican National Institutes of Health zvakaratidza kuti paumbwe masero hakuvaki imhaka nhaka kushayiwa iri muviri enzayemu glucocerebrosidase. vakabudirira chirwere zvabuda akapa hwaro pakuumba munhu bedzi kurapa nzira kuzvitsinhanisa makemikari. The nzira itsva kurapwa zvisingaiti kubvisa chirwere zvachose, asi akapa mukana kuderedza zvikuru ayo chitarisiko.

Zvaakazoita Gaucher evanhu. Chii?

zvidzidzo Sociological dzinoratidza kuti vanhu 100 000 vanhu pamusana asingasviki 1% yevanhu vane pathological nhodzera kuti chinokonzera chirwere. Vanoverengeka akati yakawedzera kakawanda pakati vechiJudha - vatama kubva Eastern nharaunda European. Saka, zvinofungirwa kuti Gaucher mhinduro mabasa nhaka chirwere kumiririrwa kwavanobva. Kutaura zvazviri, imwe pathological nekuratidza rakapararira ine kakawanda sezvo chete hemophilia nezvimwe zvirwere umo sei muchitokisi lysosomes.

mhando

Nyanzvi anozivisa mhando dzakawanda chirwere:

1. Pasina neuropathy - vakawanda nehosha, iyo vanhu vakawanda asymptomatic mhando. Kana kwakaderera muviri simba kunoratidzwa nokukurumidza ikure mwero tishu. Panguva iyoyowo, iyo kunaka masero regai kukanganisa tsinga uye pfungwa.
2. With chenjera neuropathic kuratidzwa - chinhu apo neapo mhando chirwere. Dzinoratidzwa panowanikwa chetsinga pathologies mumakore okutanga oupenyu. Nhamba dzinoratidza kuti pasina zvakakwana nenguva chirwere uye kukura zvakakodzera kwomuchipatara rufu kunoitika pamberi makore maviri.
3. With chisingaperi neuropathy - chirwere akaratidza kunonoka mberi pathologic zvinozonzi, nokuvapo neurologic zviratidzo mwero hunhu. In akazotevera okukura masero hakuvaki kunotungamirira nokuwedzera zvomukati, ari kufema hurongwa kukundwa kuva dementia. How chakakomba chirwere anoita Gaucher mhinduro? Wemagariro evanhu inoratidza kuti vakawanda varwere vararame kwacho.

Diagnostics

Kuziva pathological vanofanira kuitisa zvakaoma muviri ongororo. Kunyanya, yakarurama zvokuongorora kunoda kushanya kuna chiremba wetsinga, mumwe wevana, nyanzvi mune genetics. Pari kushandiswa nzira dzinoshanda, migumisiro iro vanokwanisa kuratidza kukura chirwere:

1. Blood - yakarurama kwazvo chirwere nzira chinopa mukana kuti huwandu enzayemu glucocerebrosidase zvinosanganisira nemaziso leukocyte uye fibroblast.
2. DNA ongororo - anozivisa magene muchitokisi kunotouraya. Chirwere zvinogoneka iri nzira kusvika 90% panguva padariro kukura ari mudumbu mudumbu.
3. Mwongo ongororo - nechinangwa achizivisa chinoratidza chirwere Kumwe kuchinja kunotanga mu tishu mamiriro. The Kushandiswa chirwere nzira runoita kuzosimbisa chirwere, asi hazvigoni kuona nzvimbo foni - vatakuri mutated majini.

Zviratidzo uye zviratidzo chirwere

Sezvatamboona, mukutanga zvokukura Gaucher norudaviro asymptomatic. Panyaya iyi, kushaya glucocerebrosidase enzayemu asingadi kukanganisa zvomukati uye kunokanganisa tsinga.

In azara chirwere chiri chakasimba, mberi hunhu. Panguva iyi, murwere anonzwa zvakawanda zvive, neapo chirwere abdominal marwadzo, sezvo kukura masero pathological chinobata zvikurukuru chiropa uye chirwatata. mitumbi aya akawedzera kwenzwi uye pasina zvakakodzera nechirwere uye kurapa kazhinji pasi kukuparadzai tishu.

Izvi zvinoratidza Gaucher mhinduro. In evanhu, ichi izwi hakuwaniki, kunyange zvazvo Uilla Smita hunhu kubva firimu "Focus" akadaro akatarisana.

Kuratidzwa zviratidzo hosha pauduku kazhinji kunotungamirira kune kukura mapfupa chirwere. mapfupa mwana akure zvishoma nezvishoma, pane sokunonoka iri kukura uye paumbwe marangwanda.

Zvaakazoita Gaucher: kwepfungwa

Mumwe mukuru matambudziko anotarisana nevanhu panguva majini chirwere - chimiro vakawanda zvakawanda zvive. Izviwo, rinoita yakawanda yose nezvinetso zvepfungwa. Vanhu vanotambura chirwere ichi muna rikwanise chimiro, vanonzwa vaneta kunyange pashure usiku zvizere kuti zororo.

In vana, Gaucher norudaviro hunokonzera kusava nesimba uye mumisasa. Nokuda kwechikonzero ichi, zvakaoma kukurukura nevezera ravo, kutamba neshamwari, kutamba mitambo, kuisa pfungwa chekudzidza basa, kubatanidzwa muupenyu paruzhinji.

Kutungamirira kudzikira mune epfungwa murwere anogona kuchinja chitarisiko. Mwana anogona seka nokuda kukwana kukura, kuzara, underdevelopment tsandanyama. Vanhu pasi kuratidzwa hosha iri rikwanise chimiro, kazhinji vanotambura kusiyana zvimwewo Data vaida mufananidzo pachako. Help kubvisa pamusoro matambudziko anokwanisa mupfungwa mazano.

pezvingazoitika

Kana untreated, migumisiro chirwere vari yemanyorero:

• kunonyengedza ropa iri zvomudumbu zvomukati;
• zvakakanganisika chiropa rinenge uye chirwatata;
• laryngeal kurwadza kwacho, kusvikira kwakakwana kumira kufema;
• pave kufema kukundikana, kakawanda mabayo;
• pezvakaitwa inoparadza mukufamba pfupa mitswe;
• mwongo chirwere.

mabatiro

Kwete kare, kurapa hakungorevi kubviswa chikuru zviratidzo chirwere. Sezvo 90-ies wekupedzisira remakore sezvo huru nzira kurapwa vakatanga kushandisa yokutsiva fermentoterapii, unosanganisira okusuma kupinda muviri dzakachinjwa muchitokisi glucocerebrosidase. Chakagadzirwa enzayemu makopi mashandiro chaiwo chinoumba muropa anozadza marongerwo wayo kushayiwa mumuviri. Majekiseni pamwechete zviri pafuma anogona kubvisa akaipa zviratidzo chirwere, uye mune zvimwe zviitiko kumisa paumbwe masero mwero zvavo.

Kuti zviite mukuru mamiriro vairwara vanhu waakaudzwa analgesics. With kuchiita chirwere unodzokera kubvisa chikamu chiropa kana chirwatata. Mune zvimwe zviitiko, kugadzirisa dambudziko waibvumira mwongo nokuisazve.

In mhedziso

Zvaakazoita Gaucher - chii? Sezvinogona kuoneka, asi zvokurwara ndiye contravention zvakakwana Undefined zviratidzo. On kurapwa kubudirira chinozivisa zvokurwara mukuvamba mumatanho, vokutanga kutanga kuzvitsinhanisa kurapwa iri zvakananga hwairatidza. The belated norudaviro dambudziko kunotungamirira pave zvakakomba yematambudziko, uye mugumisiro kushaya kurapwa kazhinji anova zvinouraya.