Pompe chirwere: chii icho, zviratidzo uye kurapwa

Zvemukati

• Zviratidzo zvePompe Zvirwere
• Kuongororwa kwechirwere chaPompe
• Kwakadii kurapwa
• Physiotherapy yechirwere chaPompe

Chirwere chaPompe chisingawanzoitika neuromuscular kusagadzikana kwemajini kwakatangira kunoratidzwa nekufambira mberi kwemhasuru kushaya simba uye nemoyo uye nekufema shanduko, izvo zvinogona kuratidza mumwedzi gumi nemaviri yehupenyu kana gare gare panguva yehucheche, kuyaruka kana kukura.

Chirwere chePompe chinomuka nekuda kwekushomeka kweiyo enzyme inokonzeresa kuputsika kweglycogen mumhasuru uye chiropa, alpha-glucosidase-acid, kana GAA. Kana iyi enzyme isipo kana inowanikwa munzvimbo dzakadzika kwazvo, glycogen inotanga kuunganidzwa, izvo zvinokonzeresa kuparadzwa kwemasuru emhasuru, zvichitungamira pakuonekwa kwezviratidzo.

Chirwere ichi hachina mushonga, zvisinei zvakakosha kuti hutachiona huitwe nekukurumidza kuitira kuti pasave nekuvapo kwezviratidzo zvinokanganisa hupenyu hwemunhu. Kunyangwe pasina mushonga, chirwere chaPompe chinorapwa kuburikidza ne enzyme kutsiva uye physiotherapy zvikamu.

Zviratidzo zvePompe Zvirwere

Chirwere chaPompe chirwere uye hutachiona, saka zviratidzo zvinogona kuoneka chero zera. Zviratidzo zvinoenderana zvinoenderana nebasa reiyo enzyme uye huwandu hweiyo yakaunganidzwa glycogen: iyo yakaderera chiitiko cheGAA, yakakura huwandu hweglycogen uye, nekudaro, iyo yakakura kukuvara kwemaseru maseru.

Zviratidzo zvikuru nezviratidzo zvehosha yaPompe ndeizvi:

• Kufambira mberi kwemhasuru kushaya simba;
• Kurwadziwa kwetsandanyama;
• Kusagadzikana kusvetuka pane zvigunwe;
• Dambudziko rekukwira masitepisi;
• Kufema kunetseka nekuzotevera kukura kwekufema kutadza;
• Kuoma kutsenga uye kumedza;
• Motokari yekuvandudza inoshaya zera;
• Marwadzo muzasi kumashure;
• Zvakaoma kusimuka kubva pakugara kana kurara pasi.

Uye zvakare, kana paine zvishoma kana pasina chiitiko cheiyo GAA enzyme, zvinokwanisika kuti munhu ane moyo wakawedzera uye chiropa.

Kuongororwa kwechirwere chaPompe

Kuongororwa kwechirwere chaPompe kunoitwa nekunhonga ropa shoma kuti uongorore zvinoitwa neiyo enzyme yeGA. Kana zviwanikwa zvishoma kana kusawanikwa, kuongororwa kwemajini kunoitwa kuratidza chirwere.

Izvo zvinokwanisika kuongorora mwana achiri mudumbu, kuburikidza neamniocenteis. Bvunzo iyi inofanirwa kuitirwa vabereki vanenge vatove nemwana ane chirwere chePompe kana kana mumwe wevabereki achinge anonoka chirwere ichi. Kuongororwa kweDNA kunogona zvakare kushandiswa senzira yekutsigira pakuongorora chirwere chaPompe.

Kwakadii kurapwa

Kurapa kwechirwere chaPompe kwakanangana uye kunoitwa nekuiswa kweiyo enzyme iyo murwere isingagadzi, iyo enzyme alpha-glucosidase-acid. Nekudaro, munhu anotanga kudzikisira glycogen, ichidzivirira shanduko yekukuvara kwemhasuru. Iyo enzyme dose inoverengwa zvinoenderana nehuremu hwemurwere uye inoiswa yakanangana neiyo tsinga mazuva ese gumi nemashanu.

Mhedzisiro yacho ichave iri nani kutanga kuongororwa kunoitwa uye kurapwa kunoitwa, izvo zvinongo deredza kukuvara kwemaseru kunokonzerwa nekuunganidza glycogen, isingadzoreke uye, nekudaro, murwere achave nehupenyu huri nani.

Physiotherapy yechirwere chaPompe

Physiotherapy yechirwere chaPompe chikamu chakakosha chekurapa uye chinoshanda kusimbisa uye kuwedzera mhasuru kutsungirira, iyo inofanirwa kutungamirwa nehunyanzvi physiotherapist. Uye zvakare, zvakakosha kuti physiotherapy yekufema iitwe, nekuti varwere vazhinji vanogona kunetseka kufema.

Kurapa kwakaringana neyekurapa kwekutaura, pulmonologist uye cardiologist uye psychologist pamwe muboka rezvemhando dzakasiyana-siyana kwakakosha.