Chirwere cheKrabbe chirwere chinokanganisa chinokanganisa hurongwa hwemagetsi
Chirwere cheKrabbe, chinonziwo globoid cell leukodystrophy, chirwere chinokonzera muviri chinokanganisa chirwere chetsitsi. Vanhu vane chirwere cheKrabbe vane mamiriro ekuchinja kweGALC. Nemhaka yezvinhu izvi zvinochinja, hazviiti zvakakwana zve enzyme galactosylceramidase. Izvo zvinoshaya zvinotungamirira mukurasikirwa kunofambira mberi kwekuchengetedza kwemafuro akavhara masero emasero, anonzi myelin .
Pasina izvi zvidziviriro, mitsipa yedu haigone kushanda zvakanaka, inokuvadza ubongo hwedu uye hurongwa hwedu hwemagetsi.
Chirwere cheKrabbe chinokanganisa inofungidzirwa 1 mu100 000 vanhu munyika yose, ine zviitiko zvakakwirira zvinoratidzwa mune dzimwe nzvimbo muIsrael.
Zviratidzo zveKrabbe Disease
Kune zvikamu zvina zvechirwere cheKrabbe, mumwe nomumwe ane mazamu ake uye zviratidzo.
| Tora 1 | Infantile | Inotanga pakati pemwedzi 3 kusvika ku6 yemakore |
| Tora 2 | Late Infantile | Inotanga pakati pemwedzi mitanhatu nemakore matatu |
| Tora 3 | Juvenile | Inotanga pakati pemakore matatu kusvika pamakore gumi nemana |
| Tora 4 | Munhu mukuru anotanga | Inotanga nguva ipi neipi mushure memakore gumi nemana |
Sezvo chirwere cheKrabbe chinokanganisa masero emagetsi, mazhinji emararamiro ayo anokonzera ndeeurological. Tora 1, iyo infantile fomu, inokwana 85 kusvika ku90 muzana yematambudziko. Tora 1 inofambira mberi kuburikidza nhanho nhatu:
- Chikamu chekutanga: Chinotanga kumwedzi kwemwedzi mitatu kusvika kumatanhatu mushure mokuberekwa. Vana vanocheche vanorega kusimba uye vanogumburwa. Vane musimba wekutaura (misungo yakaoma kana kuti inononoka) uye kunetseka kudyisa.
- Chikamu chechipiri: Kukurumidza kushandiswa kwemasero masero kunowanzoitika, zvichiita kuti kurasikirwa kushandiswa kwemasimba, kuwedzera mushutu toni, kuvhara shure, uye kukuvadza kwemaonero. Kukunda kunogona kutanga.
- Chikamu chechitatu: Mucheche anova bofu, matsi, asingazivi nzvimbo dzakapoteredza, uye akagadzikana mumamiriro akaoma. Upenyu hwevana vane Rudzi rwekutanga hunenge gumi nemwedzi.
Imwe mhando dzechirwere cheKrabbe dzinotanga mushure menguva yekuvandudza kwekugara. Izvozvi marudzi anofambira mberi zvishoma kudarika Tsika 1 inobata. Vana kazhinji havasi kurarama makore anopfuura maviri mushure mekunge Tsika 2 inotanga. Upenyu huripo hweMhando 3 uye 4 hunosiyana, uye zviratidzo zvingasave zvakaoma.
Maitiro eCrabbe Anowanikwa sei
Kana zviratidzo zvemwana wako zvinoreva chirwere cheKrabbe, kuongororwa ropa kunogona kuitwa kuti vaone kana vane chirwere chegalactosylceramidase, kusimbisa chirwere cheKrabbe chekucherechedza. Chirwere chinokonzera mutsvuku chinogona kuitwa kuti shandise cerebrospinal fluid. Zvipfeko zvakanyanya zveprotini mazinga zvinogona kuratidza chirwere chacho. Kuti mwana aberekwe nemamiriro acho ezvinhu, vabereki vose vanofanira kutakura mutered mutene - uri pa chromosome 14. Kana vabereki vakatakura geni, mwana wavo asati aberekwa anogona kuongororwa kushaya galactosylceramidase. Mamwe magwaro anopa kuongorora patsva kwechirwere cheKrabbe.
Kurapa
Hakuna mushonga wechirwere cheKrabbe. Zvidzidzo zvenguva pfupi zvakaratidza hematopoietic stem cell transplantation ( HSCT ), masero emadzimai anowanzova masero eropa, seanogona kurapwa kwemamiriro acho ezvinhu. HSCT inoshanda zvakanyanya apo inopiwa kuvarwere vasina kuve varatidze zviratidzo kana kuti vane zviratidzo zvishoma. Mishonga inoshanda zvakanyanya apo inopiwa mumwedzi wokutanga wehupenyu.
HCST inogona kubatsira avo vane nguva yekurumidza kusvika kana zvirwere zvishoma nezvishoma nezvishoma uye vana vane chirwere chechidiki-chinokonzerwa kana vachipiwa kare zvakakwana. Kunyange zvazvo HCST isingarapiki chirwere chacho, inogona kupa humwe hutano hwehupenyu hwakanaka - kunonoka kukura kwezvirwere uye kuwedzere kutarisira upenyu. Zvisinei, HCST inouya nehuwandu hwayo pachayo uye ine chirwere chekufa kwe 15 muzana.
Tsvakurudzo yezvino inotsvakurudza mishonga inobata zvirwere zvinoputika, enzyme replacement therapy, gene therapy, uye neural stem cell transplantation. Izvi zvipatara zvose zviri mumatangi avo ekutanga uye havasati vashandura zviyero zvemakiriniki.
Tsanangudzo yenyaya ino yakatorwa kubva:
Tegay, DH (2014). Chirwere cheKrabbe. eMedicine.