Koj puas tau muaj mob plab heev uas koj xav tsis thoob li? Los yog koj puas mob hnyav heev xws li mob pob khaus thiab kub hnyiab thaum koj tawm mus rau hauv lub hnub? Tom qab tej yam no, nws yuav yog ib yam kab mob tsis tshua muaj hu ua 'Porphyria', uas ntau tus neeg hauv peb lub tebchaws tsis tau hnov dua. Lub npe yuav suab me ntsis txawv, tab sis qhov no yog ib qho mob uas tshwm sim los ntawm cov txheej txheem tshuaj lom neeg hauv peb lub cev uas mus tsis raug. Yog li cia peb tham txog qhov no yooj yim, zoo li peb tab tom qhia ib tug phooj ywg.
Hauv lwm lo lus, porphyria yog dab tsi?
Yuav kom nkag siab qhov no, cia peb xub saib peb cov ntshav. Peb cov ntshav muaj xim liab thiab nqa cov pa oxygen thoob plaws lub cev vim nws muaj cov tshuaj tshwj xeeb hu ua 'heme' . Kev tsim cov 'heme' no hauv peb lub cev zoo li txoj haujlwm ntawm lub Hoobkas loj. Nws yog ib qho txheej txheem nyuaj uas tshwm sim hauv yim (8) kauj ruam.
Xav txog seb koj puas ua ib pluag mov. Koj yuav tsum ntxiv tej yam sib txawv rau ntau theem sib txawv, ib kauj ruam zuj zus. Ib yam li ntawd, muaj cov protein tshwj xeeb hu ua enzymes los pab txhua kauj ruam ntawm kev ua cov 'heme' no. Muaj ib qho enzyme sib txawv rau txhua kauj ruam.
Porphyria tshwm sim thaum ib qho ntawm yim kauj ruam no raug cuam tshuam, thiab cov enzyme uas ua rau nws tsis ua haujlwm zoo. Qhov no txhais tau tias cov tshuaj hu ua porphyrins thiab porphyrin precursors, uas tau tsim tawm thaum lub sijhawm ua heme, tsis raug tshem tawm ntawm lub cev thiab hloov chaw pib sib sau ua ke hauv cov cell. Nws zoo li thaum lub tshuab tawg ntawm cov kab tsim khoom hauv Hoobkas, cov khoom lag luam sib sau ua ke. Kev sib sau ua ke ntawm cov tshuaj no hauv lub cev yog qhov ua rau muaj ntau yam tsos mob.
Feem ntau, qhov ua rau muaj cov enzyme tsis txaus no yog kev hloov pauv caj ces uas khiav hauv tsev neeg. Qhov no txhais tau tias muaj feem yuav muaj tus mob no hauv tsev neeg. Tab sis tsis txhob txhawj, cov kws kho mob txawj ntse tuaj yeem pab kuaj mob, tswj cov tsos mob, thiab txo qhov cuam tshuam uas nws muaj rau koj lub neej.
Cov hom mob porphyria tseem ceeb yog dab tsi?
Muaj li ntawm 8 hom kab mob porphyria tseem ceeb. Tab sis lawv txhua tus tuaj yeem muab faib ua ob pawg loj raws li lawv cov tsos mob. Qhov no yooj yim heev rau kev nco qab.
| Pawg Tseem Ceeb | Piav qhia yooj yim |
|---|---|
| Mob Porphyria Mob Hnyav | Hauv hom mob no, muaj cov tsos mob tshwm sim sai sai thiab hnyav. Cov tsos mob tseem ceeb yog mob plab hnyav. Nws kuj tseem tuaj yeem ua rau muaj teeb meem nrog lub paj hlwb. |
| Cov kab mob Porphyria ntawm daim tawv nqaij | Raws li lub npe qhia, nws feem ntau cuam tshuam rau daim tawv nqaij. Thaum raug tshav ntuj, daim tawv nqaij yuav khaus, mob, thiab o. |
Tam sim no cia peb los saib cov subtypes ntawm ob pawg no.
Hom Mob Porphyrias Mob Hnyav
Cov no yog cov hom uas ua rau muaj "kev tawm tsam" sai sai.
- Mob Porphyria Mob Porphyria Ib Txwm Muaj (AIP): Qhov no yog hom mob hnyav tshaj plaws. Nws ua rau mob plab heev, tab sis tsis muaj teeb meem ntawm daim tawv nqaij.
- Kab mob Coproporphyria uas los ntawm noob caj noob ces (HCP): Qhov no tuaj yeem ua rau mob plab thiab ua pob liab ntawm daim tawv nqaij thaum raug tshav ntuj.
- Variegate Porphyria (VP): Qhov no kuj tseem tuaj yeem ua rau mob plab thiab mob tawv nqaij.
- ALAD-Deficiency Porphyria: Qhov no tsis tshua muaj. Cov tsos mob feem ntau tshwm sim thaum yau.
Hom Cutaneous Porphyrias
Cov no yog cov hom uas cuam tshuam rau daim tawv nqaij. Cov no kuj muab faib ua ob pawg: cov uas ua rau muaj pob khaus thiab cov uas ua rau mob yam tsis muaj pob khaus.
Cov tawv nqaij porphyria uas ua pob liab liab:
- Porphyria Cutanea Tarda (PCT): Qhov no yog hom porphyria feem ntau, thiab feem ntau tshwm sim thaum laus.
- Kab mob ntshav liab yug los (Congenital Erythropoietic Porphyria - CEP): Qhov no yog ib qho mob tsis tshua muaj thiab hnyav heev. Cov tsos mob yuav tshwm sim thaum yug los.
Cov kab mob cutaneous porphyria uas tsis yog vesicular:
- Erythropoietic Protoporphyria (EPP) thiab X-linked Porphyria (XLP): Hauv ob hom no, es tsis txhob ua pob liab, daim tawv nqaij yuav mob heev, o, o, thiab liab thaum raug tshav ntuj.
Cov tsos mob ntawm tus kab mob no yog dab tsi?
Cov tsos mob sib txawv heev nyob ntawm seb koj muaj hom mob porphyria li cas. Ib txhia neeg muaj cov tsos mob me me xwb, thaum lwm tus neeg yuav muaj cov tsos mob hnyav uas tuaj yeem ua rau tuag taus. Ib txhia neeg yuav muaj cov noob caj noob ces tab sis yeej tsis muaj cov tsos mob li.
Cia peb muab cov yam ntxwv no faib ua pawg kom yooj yim nkag siab.
| Pawg tsos mob | Cov yam ntxwv pom tseeb |
|---|---|
| Thaum lub sijhawm muaj mob porphyria hnyav | |
| Kev zom zaub mov | Mob plab heev, mob tam sim ntawd, xeev siab thiab ntuav, cem quav. |
| Lub paj hlwb thiab lub siab xav | Mob caj npab, mob ceg, mob hauv siab, mob nraub qaum, ntxhov siab, pw tsis tsaug zog, tsis meej pem hauv siab, pom kev tsis meej pem, loog ntawm ob txhais ceg (paresthesia) , cov leeg tsis muaj zog lossis tuag tes tuag taw (uas tuaj yeem cuam tshuam rau cov leeg ua pa), thiab qaug dab peg. |
| Lub plawv thiab ntshav siab | Lub plawv dhia ceev (tachycardia) , ntshav siab. |
| Lwm yam nta | Cov zis hloov ua xim tsaus (liab los yog xim av). |
| Hauv cov kab mob Cutaneous Porphyrias | |
| Hom tsis-blistering (EPP / XLP) | Thaum raug tshav ntuj (txawm tias los ntawm lub qhov rais), daim tawv nqaij yuav loog, khaus, o, thiab mob . Qhov mob no kav ntev li ob mus rau peb hnub. |
| Hom blisters (PCT/CEP) | Cov pob khaus hauv cov cheeb tsam uas raug tshav ntuj (tshwj xeeb tshaj yog sab nraub qaum tes)Cov qhov txhab uas tshwm sim, lawv cov qhov tawg thiab caws pliav, kev hloov pauv ntawm cov xim tawv nqaij, tawv nqaij tuab zuj zus, tawv nqaij txawm tias me me xwb los xij , thiab cov plaub hau ntawm lub ntsej muag loj hlob ntau dhau. |
Kev mob porphyria "tawm tsam" tuaj yeem kav ntev li ntawm 3-7 hnub, thiab yog tias tsis kho, tuaj yeem kav ntev li ntau lub lis piam lossis txawm tias ntau lub hlis.
Dab tsi yog cov ua rau thiab cov ua rau muaj porphyria?
Raws li peb tau tham ua ntej lawm, qhov laj thawj tseem ceeb rau qhov no yog kev hloov pauv ntawm cov noob caj noob ces. Tab sis qhov tseem ceeb ntawm no yog tias tsis yog txhua tus neeg uas muaj cov noob caj noob ces yuav muaj cov tsos mob. Muaj ntau tus neeg nyob ua cov neeg nqa cov noob caj noob ces no yam tsis muaj teeb meem dab tsi.
Yuav kom muaj "kev tawm tsam" nrog cov tsos mob ntawm porphyria mob hnyav, yuav tsum muaj qee yam 'ua rau mob hnyav' . Cov ua rau mob hnyav no ua rau lub cev xav tau ntau 'heme', uas ua rau qhov tsis muaj zog hauv cov txheej txheem ntawd tshwm sim, thiab cov tshuaj lom neeg kom sib sau ua ke hauv lub cev.
Nov yog qee qhov tseem ceeb ua rau muaj teeb meem:
- Cov tshuaj hormones poj niam nce ntxiv: Tshwj xeeb tshaj yog thaum lub sijhawm ntawm tus poj niam lub voj voog txhua hli.
- Qee cov tshuaj: Piv txwv li, qee cov tshuaj tua kab mob, tshuaj loog, thiab tshuaj tiv thaiv kev yug me nyuam.
- Haus dej cawv ntau dhau.
- Haus luam yeeb.
- Kev txwv kev noj zaub mov: Kev yoo mov lossis noj zaub mov uas muaj cov carbohydrate tsawg heev.
Porphyria Cutanea Tarda (PCT) yog ib hom txawv me ntsis. Nws tuaj yeem tshwm sim los ntawm lwm yam sab nraud tsis yog noob caj noob ces. Piv txwv li, tus mob no tuaj yeem tshwm sim los ntawm tej yam xws li hlau ntau dhau hauv lub cev (hemochromatosis), Kab mob siab C lossis HIV, thiab haus cawv ntau dhau.
Tus kws kho mob nrhiav tau qhov no li cas?
Thaum koj qhia koj tus kws kho mob txog koj cov tsos mob, nws yuav kuaj koj thiab nug seb puas muaj leej twg hauv koj tsev neeg puas tau muaj cov tsos mob zoo sib xws. Vim tias porphyria yog ib yam kab mob tsis tshua muaj, qee zaum nws yuav siv sijhawm ntev los kuaj mob kom raug.
Kev kuaj mob hauv chaw kuaj mob feem ntau yog ua los xyuas kom meej qhov kev kuaj mob.
- Kev kuaj zis: Thaum muaj tus kab mob porphyria "tawm tsam," cov tshuaj hu ua ALA thiab PBG hauv cov zis siab heev. Qhov no yog qhov kev kuaj tseem ceeb los kuaj mob.
- Kev kuaj ntshav
- Kev kuaj quav
Cov kev kuaj no tuaj yeem pab txiav txim siab seb koj muaj hom porphyria twg. Tom qab ntawd, yog tias tsim nyog, kev kuaj noob caj ces tuaj yeem ua tau.Thaum ua li ntawd, peb kuj tuaj yeem paub tseeb tias qhov kev hloov pauv caj ces ua rau qhov no yog dab tsi.
Yuav kho li cas?
Cov kev xaiv kho mob sib txawv nyob ntawm seb koj muaj hom mob porphyria thiab qhov hnyav ntawm koj cov tsos mob. Koj tus kws kho mob yuav tsim ib txoj kev npaj kho mob uas haum rau koj.
Kev Kho Mob Rau Mob Porphyrias
Yog koj muaj "kev tawm tsam", feem ntau koj yuav tsum tau mus pw hauv tsev kho mob thiab kho mob .
- Ib hom tshuaj hu ua 'Hemin' raug muab tso rau hauv cov hlab ntsha kom txo cov tshuaj lom neeg (ALA thiab PBG) uas tau sib sau ua ke hauv lub cev.
- Muaj lwm cov tshuaj uas muab los tswj cov tsos mob xws li mob hnyav, xeev siab, thiab qaug dab peg.
- Muab cov tshuaj ntsev (IV fluids) rau kom kho qhov qhuav dej thiab cov ntsev hauv lub cev.
- Yuav kom tiv thaiv tau qhov rov tshwm sim ntawm "kev tawm tsam", yuav tsum tau txhaj tshuaj tiv thaiv kab mob Givosiran txhua hli.
- Qhov tseem ceeb tshaj plaws yog kom tsis txhob muaj cov teeb meem uas peb tau tham txog ua ntej.
Kev Kho Mob Rau Cov Kab Mob Porphyrias
Hauv cov hom mob no, qhov kev kho mob tseem ceeb tshaj plaws thiab tus lej ib yog kev tiv thaiv daim tawv nqaij.
Kev tiv thaiv hnub yog qhov tseem ceeb. Ib qho tshuaj pleev thaiv hnub yooj yim xwb tej zaum yuav tsis txaus. Qhov zoo tshaj plaws uas yuav tsum ua yog zam lub hnub ntau li ntau tau. Yog tias koj tawm mus sab nraud, koj yuav tsum hnav khaub ncaws ntev thiab kaus mom kom zoo.
Tsis tas li ntawd xwb, muaj lwm yam kev kho mob nyob ntawm hom mob:
- Rau EPP/XLP: Muaj ib qho me me uas hu ua 'Afamelanotide' uas muab tso rau hauv qab daim tawv nqaij. Cov tshuaj uas tso tawm los ntawm qhov no pab txo qhov mob uas tshwm sim thaum koj raug tshav ntuj.
- Rau PCT:
- Kev Siv Ntshav: Yuav kom tshem tawm cov hlau ntau dhau ntawm lub cev, yuav muab cov ntshav me me rau lub sijhawm tshwj xeeb .
- Hydroxychloroquine: Cov tshuaj no, siv rau hauv cov koob tshuaj tsawg, pab lub cev tshem tawm cov porphyrins uas tau sau los ntawm lub cev los ntawm cov zis.
- Rau CEP: Yuav tsum tiv thaiv tshav ntuj kom zoo. Yog tias ntshav tsis txaus, tej zaum yuav tsum tau hloov ntshav. Tib txoj kev los kho tus kab mob no kom zoo yog hloov pob txha .
Yuav ua li cas thiaj nyob tau nrog qhov xwm txheej no?
Thaum koj raug kuaj pom tias muaj tus kab mob porphyria, koj lub neej yuav hloov me ntsis. Kev mus kuaj mob tsis tu ncua nrog koj tus kws kho mob yuav yog ib feem ntawm koj lub neej. Qhov no yog ib qho tseem ceeb rau kev saib xyuas tus mob thiab saib seb puas muaj teeb meem tshwm sim.
Nyob nrog ib yam kab mob tsis tshua muaj li no yuav ua rau koj lub siab ntxhov siab. Tej zaum koj yuav xav tsis thoob tias vim li cas qhov no thiaj tshwm sim rau koj ib leeg xwb. Tham nrog koj tus kws kho mob, koj tsev neeg, lossis ib tug phooj ywg uas koj ntseeg siab txog koj txoj kev xav. Kev koom nrog ib pawg neeg txhawb nqa rau cov neeg uas muaj tus mob no kuj tuaj yeem pab tau zoo heev. Nco ntsoov tias koj tsis nyob ib leeg.
Cov Lus Qhia Txog Kev Coj Mus Tsev
- Porphyria yog ib qho kab mob tsis tshua muaj, feem ntau yog los ntawm noob caj ces uas cuam tshuam rau lub cev tsim cov heme.
- Muaj ob hom mob tseem ceeb: mob hnyav, uas ua rau mob plab tam sim ntawd, thiab mob tawv nqaij, uas ua rau daim tawv nqaij rhiab rau tshav ntuj.
- Kev kuaj zis, ntshav, thiab quav yog qhov tseem ceeb rau kev kuaj mob.
- Cov kev kho mob sib txawv nyob ntawm hom kab mob. Hauv cov mob hnyav, kev zam cov 'ua rau mob' yog qhov tseem ceeb heev, thiab hauv cov mob ntawm daim tawv nqaij, kev tiv thaiv koj tus kheej ntawm lub hnub ci yog qhov tseem ceeb heev.
- Yog koj lossis ib tug neeg koj paub muaj cov tsos mob no (tshwj xeeb tshaj yog mob plab hnyav uas tsis paub meej lossis muaj teeb meem ntawm daim tawv nqaij thaum raug tshav ntuj), thov mus ntsib kws kho mob sai li sai tau kom tau txais lus qhia.
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Tsis muaj lus teb tau muab tso tawm. Ntxiv koj cov lus tawm ntawm no thawj zaug.
Ntxiv koj cov lus