Mucopolysaccharidosis I (MPS-1) - A yereditary ype yeMorecular Storage Disease
Kana wakadzidza kuti mwana wako kana mwana wemunhu waunoda ane Hurler syndrome, zvimwe unodedzwa uye unotya. Izvi zvinorevei?
Tsanangudzo
Hurler syndrome ndiyo chirwere chekuchengetedza chirwere mumuviri chinokonzerwa nekushaiwa kweimwe enzyme. Iyo enzyme isina kukwana, alpha -L-iduronidase (IDUA) inokonzerwa neine gene gene mutation muGENU yeAIDS, geni iri pane chromosome 4.
Mamiriro acho ezvinhu anosiyana nekuoma, asi inongoramba iripo inosanganisira zvirongwa zvakawanda zvemuviri.
Kunzwisisa Mucopolysaccharidoses (MPS)
Mucopolysaccaridoses (MPS) iboka rezvirwere zvepabonde umo muviri wakakura wemakemikari (makemikari) hauna kana huripo muhuwandu hwakakwana. MPS Ini chirwere chinokonzerwa nekushayikwa mune imwe enzyme inonzi alpha-L-iduronidase (IUDA).
Iyo enzyme alpha-L-iduronidase inoputsa maketani marefu emashumoke ega kuitira kuti mutumbi unogona kuvadzira. Pasina enzyme, makuru makuru emashuga anovaka uye inoparadza zvishoma nezvishoma chikamu chemuviri.
Iko kuumbwa kwemamolekoro (glycosaminoglycans kana GAGs) kunowanikwa mu lysosomes (imwe nhengo inokosha mumasero ane hutachiona hwemakemikari). Izvo chaizvo GAGs izvo zvinovaka mumakirosomes zvakasiyana pane imwe neimwe yakasiyana-siyana yePSS chirwere.
Hurler Syndrome kana Hurler Disease ndiyo izwi rezvinyorwa zvevhesi yakanyanya yePMS.
Hurler ndiro zita rekupedzisira rechiremba uyo akatanga kutsanangura chirwere chacho.
Mwana acharatidza zviratidzo zvishomanana zvechirwere paanenge aberekwa asi mukati memwedzi mishomanana (kamwe ma molecules anotanga kuvaka mumasero) zviratidzo zvinotanga. Matsipa anokwanisa kuonekwa. Mwoyo nemapfupa ekufema zvinokanganisa, sezvimwe kune dzimwe nhengo dzomukati dzinosanganisira uropi.
Mwana wacho anokura asi anoramba ari shure mune zvose mumuviri uye mupfungwa kukura kwezera rake.
Mwana angangodaro achinetseka kutamba uye kufamba, uye zvinetso nemajoini ake zvinokura, zvichiita zvikamu zvemuviri semaoko ake kuti zvikwanise kururamisa. Vana vane Hurler syndrome vanowanzotarisana nezvinetso zvakadai sekushaya mwoyo kana kuti pneumonia.
Kuziva
Kuonekwa kweHurler syndrome kunobva pane zviratidzo zvemuviri zvemuviri. Kazhinji, zviratidzo zveMPS zvakanyanya Ndichange ndiripo mugore rokutanga rehupenyu, asi zviratidzo zvekuregererwa kweMPS ndinoonekwa muhuduku. Kuedza kunogona kuona kuora kwebasa re enzyme. Izvo zvinogona kuva zvakare kugona kuziva chirwere chema molecular genetic test
Kuedzwa
Kuongororwa kwepabonde kweMPS Ini ndiri chikamu cheBhuku rinonzi Uniform Screening Panel rinoshandiswa pamangwana maawa makumi maviri nemaviri. Mutakuri wekutengesa kune ngozi mumhuri yemhuri aripo, asi chete kana zvose zviri zviviri zveIUDA zvakawanikwa mumhuri.
Nyanzvi dzakawanda dzinobatanidzwa mukuchengetwa kwemunhu ane MPS I. Anopa mazano anopa mazita anogona kutaura nemhuri uye hama pamusoro pezvipingamupinyi zvekupfuura chirwere.
Aina
Kune 7 mhando dzemuviri weMPS chirwere uye MPS ini ndiyo mutsara wekutanga (vamwewo vari MPS II (Hunter syndrome), MPS III (Sanfilippo syndrome), MPS IV, MPS VI, MPS VII, uye MPS IX).
Zviratidzo
Chimwe chezvipembenene zveMPS zvinogona kukonzera zviratidzo zvakasiyana-siyana, asi zvirwere zvizhinji zvinoshandisa zviratidzo zvakafanana, zvakadai se:
- Corneal clouding (matambudziko eziso)
- Mutsara mutsva (dwarfism kana pasi pemusoro wakakosha)
- Unyoro huri pamwe
- Hurukuro nekunzwa matambudziko
- Hernias
- Zvinetso zvemwoyo
Zviratidzo zvinowanzoenderana Hurler syndrome (uye Scheie neHurler-Scheie syndrome) dzinosanganisira:
- Chimiro chechimiro chisingaoneki (kutarisa kunetseka kwemaziso) kunotsanangurwa se "course"
- Kuwedzera kwepleen nechiropa
- Nzira yepamusoro yokumhanya kwemhepo
- Skeletal deformities
- Kuwedzera uye kuomesera kwemutsipa wemwoyo ( cardiomypathy )
Incidence
Munyika yose, MPS yakanyanya ine simba inowanikwa munenge 1 mumarudzi ose ekuberekwa 100 000 uye yakakamurwa kuva mapoka matatu maererano nerudzi, kubata, uye nzira iyo zviratidzo zvinopfuurira.
Kutongwa kweMPS Ndisina kufanana, inoitika mumasana anopfuura 1 muvana vevana 500 000.
Nhaka
Hurler syndrome inotora nhaka muzvinyorwa zvisinganzwisisiki , zvichireva kuti mwana anofanirwa kugamuchira makopi maviri ejeni reMPS I, mumwe kubva kumubereki mumwe nomumwe, kuitira kuti awedzere chirwere.
Sezvo mamiriro acho ari nhaka, vabereki vakawanda vane mwana ane Hurler syndrome vanotya kuti vamwe vana vanogonawo kuberekwa neine enzyme isipo. Sezvo mamiriro acho ari kuzviita zvakanyanya, vabereki vose vanowanzoonekwa se "vatakuri." Izvi zvinoreva kuti ivo vane kopi imwe yejeni inobereka iyo enzyme kazhinji, uye imwe kopi isingaiti. Mwana anofanira kutora nhaka yezvakaberekwa zvipembenene kubva kuvabereki vose.
Dambudziko rekuti vabereki vaviri avo vanotakura vachava nomwana ane MPS ini ndiri 25 muzana. Panewo 25 muzana yemukana wekuti mwana achagara nhaka yemakopi ose ejeni. Hafu yenguva (50 kubva muzana) mwana achagara nhaka yepfini yakakosha kubva kune mumwe mubereki uye mutema unowanikwa kune umwe. Vana ava havangave nehumwe zviratidzo, asi vachave vatakuri vehutano sevabereki vake.
Ranges
MPS ini ndinofunga kuti ndiripo pane zvishoma kubva kune zvinyoro (zvakanyatsotarisirwa) kusvika kune zvakanyanya: Pane kuwirirana kunokosha pakati peizvi uye kwete kwekusiyana kwezvinhu zvakasiyana-siyana zvehupenyu zvakaratidzwa pakati peizvi.
- Nhengo yePMS ine unyoro, kana yakadzivirirwa I inozivikanwa seSyime syndrome kana MPS IS : Vana vanoberekerwa nefomu iyi vane njere dzakanaka uye vanogona kurarama kuva vanhu vakuru.
- Iyo yakaoma miviri yePMS ini inozivikanwa seHurler syndrome kana MPS IH : Vana vanobatwa nechimiro chakakomba vangave nekutsamwa kwepfungwa, nguva shoma, mazamu akaoma, kutaura uye kusimba kwekunzwa, chirwere chemwoyo, uye kurarama kwenguva shoma. Vana ava vanowanzoita sechinhu chakanaka pakuberekwa nezviratidzo zvisiri izvo zvakasimbiswa mukati megore rokutanga rehupenyu. Somuenzaniso, mugore rokutanga rehupenyu vanogona kunge vane zvirwere zvekupemha kana mutezo wembilical, mamiriro ezvinhu anowanikwa kakawanda kune vana vasina chirwere. Zviso zvemaziso zvinowanikwa mukati megore rokutanga, zvinoteverwa nehutachiona hwematambudziko. Nenguva yekukura katatu kazhinji inowedzera kunonoka uye zvinetso zvekunzwisisa nekunzwa zvinoonekwa.
- Vamwe vana vangave vane njere dzakanaka uye vane unyoro kune zviratidzo zvepanyama zvakanyanya; iyi inogona kunzi Hurler-Scheie syndrome kana MPS I HS .
Zviratidzo izvi zvakafanana zvikuru nezviya zveMPS II (Hunter syndrome) , asi zvirwere zveHurler zvirwere zvinowedzera kukurumidza kupfuura Hunter syndrome type A.
Kurapa
Iko kusati kwave nekurapa kweMPS I, saka kurapwa kwave kwakanyanya pakuderedza zviratidzo.
Mishonga - Aldurazyme (laronidase) inotsiva enzyme isina kukwana muPPS I. Aldurazyme inopiwa nekunyanyisa kwemaawa kamwechete kwevhiki kwehupenyu kune vanhu vane MPS I. Aldurazyme inobatsira kuderedza zviratidzo asi haisi mushonga.
Stem cell cell transplant - Imwe mushonga unowanikwa weMPS Ndine marora marrow transplant , iyo inoisa masero anowanzo mumuviri achaita iyo enzyme isipo. Zvisinei, vana vakawanda vane Hurler syndrome vane chirwere chemwoyo uye havakwanise kudarika chemotherapy inoda kudiwa. Simba rekushandiswa kwemasero, kana zvichibvira, rinogona kuvandudza kupona, kukanganisa kweunyanzvi, uye kushaya mwoyo uye kuporesa, asi hazvibatsiri mukubata nezvirwere zvechirwere.
Sources:
Jameson, E., Jones, S., uye T. Remmington. Enzyme Replacement Therapy naLaronidase (Aldurazyme) Yokurapa Mucopolysaccharidosis Rudzi I. Cochrane Database yekuongorora kwakarongeka . 2016. 4: CD009354.
Wraith, J., uye S. Jones. Mucopolysaccharidosis Rudzi I. Chiremba Endocrinology Reviews . 2014. 12 Kubatsira 1: 102-6.
Wolf, D., Banerjee, S., Hackett, P., Whitley, C., McIvor, R., uye W. Low. Gene Therapy yeNeurologic Zviratidzo zveMucopolysaccharidoses. Expert Opinion muDrug Delivery . 2015. 12 (2): 283-96.