Kana iwe wakadzidza kuti iwe kana munhu waunoda ane mwana ane chirwere chePompe, unogona kunge wakatya. Chii chaizvoizvo chirwere ichi? Ndezvipi zvakasiyana-siyana zvechirwere? Uye inoongororwa sei uye inobatwa sei?
Pompe Disease kana Glycogen Storage Disease II (GSD-II)
Pumpe chirwere, chinonziwo glycogen chirwere chechirwere chechipiri II (GSD-II) kana kushayikwa kwemaaltase asidi, chimwe chezvinhu 49 zvinonzi lysosomal storage storage.
Zita rokuti Pompe chirwere inobva kuDutch dhologist JC Pompe, uyo akatanga kurondedzera mucheche ane chirwere muna 1932. Chirwere chePompe chinokanganisa vanhu vanosvika 5 000 kusvika ku10 000 pasi pose. MuUnited States, inofungidzirwa kuchinja 1 pa 40 000 vanhu.
Pumpe chirwere chinokonzerwa nekushaikwa kana kukwana kwakakwana kwe enzyme inonzi acid alpha-glucosidase. Kana iyo enzyme isingashandi zvakanaka, glycogen, shuga yakaoma, inovaka mumasero emumuviri uye inokonzera kukanganisa kwomuviri uye yehutu. Izvi zvinowanzokonzera musimba wemuviri, zvichiita kuti kupararira kwemaviri kusapararira. Izvi zvinokonzerwa ne enzyme zvinogona kutyisidzira upenyu apo kufema uye moyo wemasumbu zvakakanganiswa. Mamiriro acho ndiwo maitiro, uye vabereki vose vanofanira kutakura mutambo wekutengesa wemwana wavo kuti uwane nhaka.
Kune miviri miviri yePompe chirwere - infantile-allt uye nguva yekupedzisira-zvose izvo zvinokonzera musimba kushaya simba. Kuti chirwere chacho chinopfuurira chinotsamira sei pakukura kwacho kutanga.
Infantile-Onset Pompe Disease
Infantile-yoset inonzi inoratidzika sehutachiona hwePompe chirwere. Mamiriro acho anowanzoonekwa mukati memwedzi mishoma yekutanga yehupenyu. Vana vacheche vasina simba uye vane dambudziko rekusimudza misoro yavo. Mwoyo yavo misungo inova nehosha uye mwoyo yavo inokura uye isina simba. Vangave vanewo mazita makuru, anoputika uye chiropa chakawedzerwa.
Zvimwe zviratidzo zvinosanganisira:
- Kukundikana kukura nekuwana uremu (kusakwanisa kubudirira)
- Mwoyo kukanganisa uye kusagadzikana kwepfungwa
- Kuoma kufema kufema kunogona kusanganisira kupera simba
- Kudyisa zvinetso uye kumedza
- Kusina matanho ekufambira mberi kufanana nekuputika kana kutamba
- Zvinetso zvichifamba maoko nemakumbo
- Kunzwa kurasikirwa
Chirwere ichi chinokurumidza kukurumidza, uye vana vanowanzofa nemoyo kusakatika uye kuporesa kusimba vasati vaberekwa kwekutanga. Vana vanotambura vanogona kurarama kwenguva yakareba nekugadzirisa kwakakodzera kwechiremba.
Kutevedza-Kutsetseka Pompe Disease
Chirwere chemazuva ekupedzisira Chirwere chePompe chinowanzotanga nezviratidzo zvemutsipa utera izvo zvinogona kutanga chero nguva kubva paudiki kubva paudiki kusvika pakukura. Utachiona husina simba hunovhiringidza hafu yepamuviri kupfuura muviri wepamusoro. Chirwere ichi chinopfuurira zvishoma nezvishoma kupfuura chimiro chechidiki, asi vanhu vachiri kuve nekurarama kwenguva shoma.
Hupenyu hunotarisirwa hunotarirwa kana hutano hutanga uye kuti zviratidzo zvinokurumidza sei. Zviratidzo zvakadai sokuoma kwakafamba kana kukwira makwidza kunotanga uye kufambira mberi zvishoma nezvamakore. Kufanana nekutanga-kutanga, vanhu vane nguva yekupedzisira vanogonawo kuva nematambudziko ekufema. Sezvo chirwere chacho chichifambira mberi, vanhu vanogara vanogara newiricheya kana vakavata pamubhedha uye vangadirei kupfutidza kufema.
Kuziva
Pomppe chirwere chinowanzoongororwa mushure mekunge zviratidzo zvichifambira mberi. Muvanhu vakuru, chirwere chePompe chinogona kuvhiringidzika nezvimwe zvirwere zvisingaverengeki muswere zvakadai sa multiple sclerosis . Kana chiremba wako achifungira chirwere chePompe, vanogona kuongorora basa re enzyme acid alpha-glucosidase mumatokisi eganda akakura. Muvanhu vakuru, kuongororwa ropa kunogona kushandiswa kugadzirisa kuderedza kana kusavapo kwei enzyme.
Kurapa
Mumwe munhu ane chirwere chePompe achada kurapwa kwakanyatsonaka kubva kune geneticists, nyanzvi dzemagetsi, uye maurorologist. Vanhu vazhinji vanowana kudya kweprotini yakakura kuti ibatsire, pamwe chete nekurovedza muviri kwezuva nezuva.
Kuongororwa kuongororwa kwehutano kunokosha sezvo chirwere chacho chichipfuurira.
Muna 2006, European Medicines Agency (EMEA) neU.S. Food and Drug Administration (FDA) vose vakapa kubvumidzwa kwekutengeswa kwechirwere Myozyme kuporesa chirwere chePompe. Muna 2010, Lumizyme yakabvumidzwa. Myozyme ndeyevatano vasati vadarika makore 8 apo Lumizyme inobvumirwa kune avo vanopfuura makore gumi nemasere. Mishonga yose inotsiva inzyme isipo, saka kubatsira kuderedza zviratidzo zvechiitiko chacho. Zvose Myozyme uye Lumizyme zvinonunurwa mukati mevhiki rimwe nerimwe.
Sources:
Nhoroondo yePompe DiseasePompe Community. 2005. Genzyme Corporation.
AMD - Acid Maltase Deficiency - Pompe Disease. 1997. Acid Maltase Deficiency Association.
National Organisation for Rare Diseases (NORD). Pompe Disease (2013).