Propionic acidemia chirwere chisingawanzoitiki uye chakakomba chemajini chinokanganisa masisitimu akawanda emuviri, kusanganisira uropi nemoyo. Kazhinji kacho chinowanikwa nguva pfupi mushure mekuzvarwa. Chinobata vanhu 3,000 kusvika 30,000 muUnited States.
Nekuda kwekusakwana kwemajini, muviri haugone kugadzirisa zvakanaka zvimwe zvikamu zvemapuroteni nemafuta. Izvi zvinozopedzisira zvaita kuti pave nezviratidzo zvechirwere ichi. Kana chikasaonekwa uye chikarapwa nenguva, chinogona kukonzera kukotama uye kunyange rufu.
Chinyorwa chino chinotsanangura zviratidzo zvepropionic acidemia uye maitiro ekuongorora chirwere ichi. Chinotaura nezvekurapa chirwere ichi, mamwe matambudziko ehutano ane chekuita nacho, uye ruzivo rwakawanda nezvehupenyu hunotarisirwa hwepropionic acidemia.
Kazhinji, zviratidzo zvepropionic acidemia zvinoonekwa mukati memazuva mashoma ekuzvarwa. Vana vanozvarwa vaine hutano asi vanokurumidza kuratidza zviratidzo zvakaita sekushaya kudya kwakakwana uye kusashanda zvakanaka kwemuviri. Kana zvikasaonekwa uye zvikarapwa, zvimwe zviratidzo zvinogona kutanga.
Kashoma kazhinji, zviratidzo zvinogona kutanga kuonekwa pazera rehudiki, kuyaruka, kana kuti pazera rekukura. Propionic acidemia inogonawo kukonzera matambudziko asingaperi, zvisinei nekuti inotanga riini.
Propionic acidemia i "chikanganiso chekuberekwa nacho chemetabolism". Iri iboka rezvirwere zvisingawanzoitiki zvinokonzerwa nezvikanganiso zvakasiyana-siyana zvemajini. Zvinogona kukonzera matambudziko nemetabolism, iyo nzira iyo zvinovaka muviri mukudya zvinoshandurwa kuita simba.
Kugayiwa kwemasero mumuviri kunoitika kuburikidza nekuita kwakawanda kwakaomarara uye kwakarongeka zvakanaka kwemakemikari, saka matambudziko nemajini akasiyana-siyana anogona kukonzera kukanganiswa kwemaitiro akajairwa ega ega ega ega ega.
Propionic acidemia inhengo yeboka rezvirwere izvi zvinonzi organic aciduria. Matambudziko aya emajini anokonzerwa nekusashanda zvakanaka kwemamwe marudzi emaamino acids (zvinovaka mapuroteni) uye zvimwe zvikamu zvemakabhohaidhiretsi nemafuta.
Nekuda kweizvozvo, huwandu hwemamwe maasidhi anowanzo kuwanikwa mumuviri hunogona kutanga kukwira kusvika padanho risingatarisirwi.
Kukanganisika kwema enzyme akasiyana kunokonzera mhando dzakasiyana dze organic aciduria. Semuenzaniso, chirwere che maple syrup chimwe chirwere chisingawanzoitiki muchikamu ichi. Chakatumidzwa zita racho nekuda kwekunhuhwirira kwacho kwakajairika.
Kunhuhwirira kwehove kunozivikanwawo sepropionic acidemia odor uye kwakabatana neimwe yemishonga yake yehupenyu hwese.
Propionic acidemia inokonzerwa nekusakwana kuripo mune rimwe remajini maviri: PCCA kana PCCB. Majini maviri aya anoumba zvikamu zviviri zveenzyme inonzi propionyl-CoA carboxylase (PCC). Pasina iyi enzyme, muviri haugone kugaya zvakanaka mamwe maamino acids nezvimwe zvikamu zvemafuta necholesterol.
Kwete. Vaongorori vakanga vatoona majini ePCCA nePCCB, asi sainzi payaifambira mberi, vakadzidza kuti kuchinja kwemajini kunosvika makumi manomwe kunogona kuita basa. Kurapa kunogona kusiyana zvichienderana nekuchinja kwemajini, uye zvimwe zvidzidzo zvekurapa majini zvakaratidza mhedzisiro yakanaka yekurapa mune ramangwana. Parizvino, chinangwa chiri pakurapa kuripo kwechirwere ichi.
Zvimwe zviratidzo zvepropionic acidemia zvinogona kusanganisira matambudziko ekugadzirwa kwesimba nekuda kwekusashanda zvakanaka kwemetabolism.
Propionic acidemia chirwere chemajini chinopararira mumuviri wemunhu. Izvi zvinoreva kuti munhu anofanira kugara nhaka jini rakakanganiswa kubva kuvabereki vake kuti awane chirwere ichi.
Kana vaviri vakazvarwa vaine mwana ane propionic acidemia, pane mukana we25 muzana wekuti mwana anotevera achavawo nechirwere ichi. Zvakakoshawo kutarisa hama dziripo dzinogona kuratidza zviratidzo gare gare. Kuongororwa nekukurumidza uye kurapwa kunogona kubatsira kudzivirira matambudziko echirwere kwenguva refu.
Kutaura nenyanzvi yezvemajini kunogona kubatsira mhuri dzakawanda. Izvi zvinokubatsira kunzwisisa njodzi dziripo. Kuongororwa kwemwana asati aberekwa uye kusarudzwa kwemwana ari mudumbu kunogona kuvawo sarudzo.
Kuongororwa kwepropionic acidemia kunoda nhoroondo yakakwana uye kuongororwa kwemuviri, pamwe nekuongororwa kwemurabhoritari. Zvakakosha kuongorora chirwere nekukurumidza, sezvo avo vanobatwa nacho vanowanzo kurwara zvakanyanya.
Matambudziko mazhinji akasiyana-siyana ehutano anogona kukonzera zviratidzo zvakakomba zvetsinga dzeropa nezvimwe zviratidzo zvinoonekwa mu propionic acidemia, kusanganisira mamwe matambudziko emumajini asingawanzoitiki. Nyanzvi dzezvehutano dzinofanira kubvisa zvimwe zvirwere zvinogona kukonzerwa nekupfupisa chikonzero chaicho.
Vanhu vane propionic acidemia vanogonawo kuva nedambudziko iri pabvunzo dzakanyanya. Semuenzaniso, vanhu vane chirwere ichi vane huwandu hwakakwira hwechinhu chinonzi propionylcarnitine.
Zvichibva pabvunzo idzi dzekutanga, vanachiremba vanoshanda kuti vasimbise chirwere ichi. Izvi zvinogona kusanganisira bvunzo dzekuongorora kuti enzyme yePCC iri kushanda zvakanaka sei. Kuongororwa kwemajini ePCCA nePCCB kunogonawo kushandiswa kujekesa chirwere ichi.
Dzimwe nguva vacheche vanotanga kuongororwa chirwere ichi zvichibva pane zvakabuda muongororo dzevana vacheche. Zvisinei, haasi matunhu ese kana nyika pasi rose dzinoongorora chirwere ichi. Pamusoro pezvo, vacheche vanogona kuratidza zviratidzo vasati vawana mhedzisiro yeongororo idzi.
Kurwara kwakanyanya kunokonzerwa nepropionic acidemia idambudziko rehutano. Pasina rutsigiro, vanhu vanogona kufa panguva yezviitiko izvi. Zvinogona kuitika vasati vaonekwa kuti vane chirwere ichi kana panguva yekushushikana kana kurwara. Vanhu ava vanoda rutsigiro rwakasimba muchipatara.
Vanhu vane propionic acidemia vanosangana nematambudziko akawanda uye vanowanzova nezvimwe zvirwere. Semuenzaniso, chirwere chemwoyo chinokura muhudiki (avhareji yemakore manomwe) ndicho chinokonzera kufa kwevanhu vakawanda. Asi nyaya yega yega yakasiyana. Nekutarisirwa kwakanaka, vanhu vazhinji vane propionic acidemia vanogona kurarama hupenyu hwakazara uye hwakareba. Chikwata chenyanzvi dzezvirwere zvemajini zvisingawanzoitiki uye nyanzvi dzehutano vanogona kubatsira.
Propionic acidemia inowanzo konzera dambudziko rehutano mumazuva mashoma ekutanga ehupenyu iro rinogona kunzwa sekunge rakanyanya kuoma. Maitiro ekugadzirisa zviri kuitika anogona kutora nguva. Zvinoda kutarisirwa nguva dzose, asi vanhu vazhinji vane propionic acidemia vanoenderera mberi nekurarama hupenyu hwakazara. Inzwa wakasununguka kutaura neshamwari, mhuri, nevashandi vekurapa kuti uwane rutsigiro.
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Munyori: Ruth Jessen Hickman, MD Ruth Jessen Hickman, MD, munyori wezvekurapa nehutano anoshanda ega uye munyori wemabhuku akabudiswa.