Porphyria inosanganisira chirwere cheGunther uye zvimwe zvinomwe zvimwe
Porphyria inoreva maitiro masere akaparadzana anokonzerwa nekuvakwa kwekemikari porphyrin. Vanhu vane porphyria havana huwandu hwemakemikari anoita heme, chinhu chinowanikwa mufupa remafuta, masero matsvuku eropa , uye chiropa. Izvi zvinoshaya enzyme inobvumira porphyrines, iyo inowanzobudiswa mumuviri wose, kuunganidza muhuwandu hwehutu.
Porphyrias inowanzogoverwa kuva mapoka maviri - acute uye kwete-acute. Izvi zvinowanzokonzera hurongwa hwehutano kana ganda. Chimwe nechimwe chinokonzera zviratidzo uye zvirwere. Zvakanyanya porphyrias zvinounza kushungurudzika kwekutambudzika uye zvinetso zvehutano zvakanyanya uye zvinoonekwa nokukurumidza. Mhando dzakasiyana dzinosanganisira acute intermittent porphyria, ALAD-inoshaya porphyria, variegate porphyria, uye inobata coproporphyria. Izvo zvisingabatsiri ndezvipi porphyria cutanea tarda, hepatoerythopoietic, uye congenital erythropoietic porphyrias.
Porphyrias zvirwere zvisingawanzoitiki. Pamwe chete, zvinosvika pasi pevanhu 200 000 muUnited States.
Acute Intermittent Porphyria
Acute intermittent porphyria (AIP) ndiyo yakanyanya kunaka ye porphyria, nekurwisana kunokura kwemaawa akawanda kana mazuva akawanda. Vanhu vakawanda vanogara nhaka yegeni yeAIP havasati vatanga zviratidzo. Mimwe mishonga inozivikanwa kuti inounza kuwedzera kana kukurira zvakanyanya, pamwe nekunwa doro, kudya, uye kushandiswa kwehomoni.
Kurwiswa kunowanzobatanidza kurwadziwa kwepamuviri uye kuvimbiswa uye kunogona kusanganisira kushushikana, kurutsa, kurwadziwa kumashure, maoko, nemakumbo, kushaya simba kwepfungwa, uye kunyange kukanganisa moyo, kuvhiringidzika, nekugumburwa.
Kazhinji kacho kukanganisa kweAIP kwokutanga kungave kusinganzwisisiki, uye mishonga inopiwa inogona kuita kuti zvinhu zviwedzere kune murwere.
Kurapa kunofanirwa kuisa zvokudya zvakanyanya-calori, kunyange nei izvi zvichibatsira kubvisa kurwisa masayendisiti havazi chokwadi chaizvo. Utachiona hweHeme hunogona kutarisirwa mukati. Zviratidzo zvinowanzogadziriswa mushure mekurwiswa, asi vamwe varwere vanokura musungo.
Imwe yacho yakaoma porphyrias ine zviratidzo zvakafanana neAIP. ALAD-kuperevedza porphyria inonyanya kushandiswa. Munzvimbo inotora coproporphyria, ganda photosensitivity inogona kuitika.
Porphyria Cutanea Tarda (PCT)
Porphyria cutanea tarda (PCT) ndiyo yakawanda pane porphyrias. PCT inowanikwa, zvinoreva kuti inokura mumunhu nekuda kwekunze kwezvinhu. Izvi zvinogona kusanganisira dare, doro, utachiona hweH hepatitis C, estrogens (kufanana nemarwadzo ekuzvidzivirira kuberekwa), uye kusvuta - zvose izvo zvinogona kukonzera kushaya simba kwe enzyme muropa, zvichiita kuti PCT.
Kana yakazarurirwa zuva, ganda rinoputika uye ganda rinogona kuvhara uye rima. PCT inonzi inonyanya kuporesa porphyria. Kana imwe nguva zviratidzo zvichatanga kuratidza, kubvisa rimwe ropa rerwere kubva kune mumwe murwere kusvikira kune vhiki mbiri (kusvika kusvika 5 kana 6 pints ropa rose) rinobvisa simbi kubva pachiropa uye rinopa zororo. PCT kazhinji haiiti zvakare shure kwekurapa.
Chirwere cheG Gunther
Congenital erythropoietic porphyria (CEP), inozivikanwawo seGermeth's disease, inonyanya kushandiswa.
Zviratidzo zveganda zveGurther's disease zvingava zvakanyanya. Kusuruvara kwezuva kunogona kutungamirira pakuputika, kupora, uye kuwedzera bvudzi kukura. Ganda rakakanganisika rinogona kubatira mabhakitiriya, uye zviso zvepiso uye zvigunwe zvingave zvakarasika kuburikidza nezuva kukuvara uye utachiona. Hepatoerythropoietic porphyria inowanzonyoresa uye inokonzera ganda rinoputika rakafanana neya Gunther's.
Erythropoietic Protoporphyria
Chirwere chinosangana ne porphyrias is erythropoietic protoporphyria (EPP). MuPPP, protoporphyrin inowedzera mumapfupa emasese, masero matsvuku eropa, uye chiropa. Zviratidzo zvinoratidzira paganda mushure mekunyatsoona chiedza chezuva. Izvi zvinosanganisira kuzvimba, kupisa, kuchenesa, uye kubwinya.
Kuzununguka nekuvhara zvishoma kudarika zvavari uye imwe porphyrias.
Porphyria Genes Identi Identified
Mapikorome mapping akacherechedza mazita ose ejeni anobatanidzwa mumakemikari asina kukwana mu porphyrias. Kuongorora kweDNA kunogona kuona vanhu vanotakura chimwe chezvipembenene zvine utachiona. Zvisinei, mashoma ma laboratori anopa rudzi urwu rwekuedzwa. Kusarudzwa kwepachirwere chepenital erythropoietic porphyria kwave kuchiitwa, pamwe chete nekubudirira kwemajeni therapy kune CEP ne EPP.
Sources:
The American Porphyria Foundation (2015)
Keung, YK, Chuahirun, T., & Cobos, E. (2000). Acute intermittent porphyria nekutora uye kuora mwoyo mu puerperium. J Ndiro Bhuku Fam Pract, vol. 13, kwete. 1, 76-79.
Lim, HW, & Cohen, JL (1999). The porphyrias akacheka. Semin Cutan Med Surg, vol. 18, no. 4, 285-292.