Xav txog seb koj puas muaj mob plab sai sai thiab mob heev yam tsis muaj laj thawj, nrog rau mob tingling lossis loog hauv koj txhais ceg, cov leeg tsis muaj zog, thiab xeev siab. Txawm tias tom qab mus ntsib ntau tus kws kho mob thiab kuaj ntau zaus lawm, qhov ua rau tseem tsis paub meej. Koj lossis ib tus neeg koj paub puas tau muaj qhov no? Tej zaum nws yog ib qho mob caj ces tsawg tsawg uas feem ntau tsis quav ntsej. Niaj hnub no, peb tab tom tshawb nrhiav qhov mob no: Mob Siab Porphyria , lossis AHP.
Mob Porphyria Mob Siab Hnyav (AHP) yog dab tsi tiag?
AHP yog hais txog ib tsev neeg ntawm cov kab mob tsis tshua muaj, uas tau txais los ntawm noob caj ces uas cuam tshuam rau koj lub paj hlwb thiab qee zaum koj daim tawv nqaij. Nws tsis tshua muaj, cuam tshuam rau kwv yees li tsib tus neeg ntawm txhua 100,000 tus neeg. Tus mob no tuaj yeem ua rau muaj kev kub ntxhov kev noj qab haus huv tam sim ntawd, hnyav, thiab muaj peev xwm ua rau tuag taus.
Yuav kom nkag siab tias yog vim li cas, cia peb saib koj cov ntshav. Peb cov qe ntshav liab muaj cov protein hu ua Hemoglobin . Nws txoj haujlwm tseem ceeb yog khaws cov pa oxygen los ntawm koj lub ntsws thiab xa mus rau koj cov kabmob thiab cov nqaij - zoo li kev pabcuam xa cov pa oxygen tshwj xeeb.
Yuav kom tsim tau cov protein no, koj lub cev xav tau ib qho tseem ceeb hu ua Heme .
Rau cov tib neeg uas muaj AHP, ib qho enzyme tshwj xeeb uas xav tau rau kev tsim Heme tsis txaus lossis ploj lawm. Xav txog nws zoo li sim ua ib daim ntawv qhia ua zaub mov tab sis ploj lawm ib qho khoom xyaw tseem ceeb; cov khoom kawg tsis tuaj yeem ua tau zoo.
Qhov tsis muaj enzyme no feem ntau tshwm sim hauv lub siab , uas tseem hu ua lub cev hepatic . Qhov no yog vim li cas tus mob no thiaj hu ua Acute Hepatic Porphyria .
Thaum koj lub cev tsis tuaj yeem tsim Heme, cov tshuaj lom neeg tsim kho - tshwj xeeb tshaj yog cov tshuaj lom ua ntej xws li Porphobilinogen (PBG) thiab Aminolevulinic acid (ALA) - pib sib sau ua ke hauv lub siab. Cov tshuaj lom no nkag mus rau hauv cov ntshav thiab tuaj yeem mus ncig thoob plaws lub cev, tshwj xeeb tshaj yog ua rau koj lub paj hlwb puas tsuaj. Qhov kev puas tsuaj ntawm cov hlab ntsha no yog qhov ua rau muaj cov tsos mob xws li mob hnyav , loog , thiab xeev siab .
Cov Hom Phiaj Tseem Ceeb ntawm AHP yog dab tsi?
Muaj plaub hom AHP tseem ceeb. Txawm hais tias txhua hom muaj qhov tsis txaus ntawm cov enzyme sib txawv hauv cov txheej txheem tsim Heme, tag nrho plaub hom feem ntau cuam tshuam rau lub siab thiab lub paj hlwb.
Mob Porphyria Mob Porphyria (AIP)
Qhov no yog hom mob uas tshwm sim ntau tshaj plaws, cuam tshuam rau 80% ntawm cov neeg mob AHP. Nws yog tshwm sim los ntawm qhov tsis txaus ntawm Hydroxymethylbilane synthase (HMBS) enzyme, uas yog los ntawm kev hloov pauv hauv HMBS gene. Qhov no tuaj yeem tau txais los ntawm niam txiv, lossis nws tuaj yeem tshwm sim los ntawm kev hloov pauv caj ces yam tsis muaj keeb kwm tsev neeg ua ntej.
AHP xav li cas?
Cov tsos mob ntawm AHP sib txawv heev. Tej zaum ib txhia neeg yuav tsis muaj tsos mob li, thaum lwm tus yuav raug kev txom nyem los ntawm kev mob hnyav heev. Kev paub txog cov tsos mob no yog qhov tseem ceeb heev.
| Lub cev cuam tshuam | Cov tsos mob feem ntau |
|---|---|
| Lub plab | Mob plab hnyav, tsis paub vim li cas (qhov tsos mob tseem ceeb ), xeev siab, ntuav, thiab cem quav. |
| Lub paj hlwb | Mob loog los yog tingling ntawm ob txhais ceg, cov leeg tsis muaj zog, mob cov leeg, thiab, tsis tshua muaj, tuag tes tuag taw. |
| Kev Noj Qab Haus Huv ntawm Lub Siab | Tsis nyob twj ywm, ntxhov siab, tsis meej pem, thiab pom kev tsis tseeb. |
| Lub Plawv & Ntshav Siab | Lub plawv dhia ceev ceev (tachycardia) thiab ntshav siab. |
| Lwm yam | Cov zis tsaus, liab, lossis xim av (tshwj xeeb tshaj yog thaum muaj mob). |
Vim tias AHP tsis tshua muaj, nws cov tsos mob feem ntau raug yuam kev rau cov mob uas tshwm sim ntau dua, uas tuaj yeem ncua kev kuaj mob.
Dab tsi ua rau muaj kev tawm tsam?
Muaj coob tus neeg uas muaj AHP ua neej zoo li qub, tab sis qee yam ua rau muaj mob sai sai. Kev paub txog cov no yog qhov tseem ceeb heev:
- Qee Cov Tshuaj: Tshwj xeeb yog cov tshuaj barbiturates thiab sulfonamide antibiotics . Yog tias koj muaj AHP, ib txwm sab laj nrog koj tus kws kho mob ua ntej pib siv tshuaj tshiab.
- Cawv: Ib qho tseem ceeb ua rau muaj kev tawm tsam AHP.
- Kev Txwv Kev Noj Qab Haus Huv / Kev Yoo Mov: Kev noj zaub mov uas muaj calories thiab carbohydrates tsawg heev tuaj yeem ua rau muaj cov tsos mob.
- Kev Hloov Pauv Hormonal: Tshwj xeeb tshaj yog cov uas cuam tshuam nrog lub voj voog ntawm cov poj niam.
- Kev Nyuaj Siab thiab Kev Kab Mob: Kev ntxhov siab ntawm lub cev, kub taub hau, lossis cov kab mob zoo li mob khaub thuas tuaj yeem ua rau muaj tus kab mob no.
Thaum Twg Koj Yuav Tsum Mus Ntsib Kws Kho Mob?
Yog koj muaj cov hauv qab no, tsis txhob tso tseg. Nrhiav kev pab kho mob yog tias:
- Koj muaj mob plab hnyav rov tshwm sim dua, tsis paub piav qhia.
- Koj muaj cov tsos mob ntsig txog cov hlab ntsha xws li tingling lossis ceg tsis muaj zog.
- Koj muaj keeb kwm tsev neeg ntawm Porphyria.
- Koj pom tias koj cov zis tau hloov xim liab tob lossis xim av.
Yog tias koj ntsib xwm txheej ceev, xws li mob tsis tuaj yeem ua tau, ua pa nyuaj, tsis meej pem tam sim ntawd, lossis tsis tuaj yeem txav koj ob txhais ceg, nrhiav kev kho mob tam sim ntawd ntawm koj chav kho mob ceev ze tshaj plaws lossis hu rau 911.
Puas Muaj Kev Kho Mob Rau AHP?
Txawm hais tias tsis muaj kev kho rau tus mob caj ces no los xij, muaj cov kev kho mob zoo heev uas siv tau los tswj thiab tiv thaiv kev tawm tsam.
Cov mob hnyav heev yuav tsum tau mus pw hauv tsev kho mob kom ruaj khov.
- Txoj kev tseem ceeb yog nrhiav thiab tshem tawm qhov ua rau.
- Siv kev tswj qhov mob hnyav los tswj qhov tsis xis nyob hnyav.
- Cov tshuaj tau muab los tswj kev xeev siab thiab ntuav.
- Kev muab cov piam thaj rau hauv cov hlab ntsha tuaj yeem pab tiv thaiv kev tsim cov tshuaj lom hauv lub siab.
- Kev Kho Mob Tshwj Xeeb: Hemin infusions ua haujlwm hloov pauv ncaj qha, qhia rau lub siab kom tsis txhob tsim cov Heme ua ntej uas ua rau muaj kev phom sij.
- Tsis tas li ntawd xwb, rau cov neeg uas raug kev tawm tsam ntau zaus, cov kev kho mob gene-silencing siab heev tam sim no muaj.
Koj tus kws kho mob yuav txiav txim siab txoj kev npaj kho mob uas zoo tshaj plaws rau koj cov kev xav tau tshwj xeeb.
Cov Lus Qhia Txog Kev Coj Mus Tsev
- Mob Porphyria Mob Siab Hnyav (AHP) yog ib qho mob caj ces tsis tshua muaj, tab sis nrog kev tswj hwm, ntau tus neeg nyob tau zoo thiab muaj lub neej zoo li qub.
- Tus tsos mob tseem ceeb yog mob plab hnyav, rov tshwm sim dua nrog rau teeb meem ntawm lub paj hlwb (tsis muaj zog, tsis muaj zog).
- Kev zam cov yam ua rau mob—xws li qee yam tshuaj, cawv, thiab kev yoo mov ntev—yog qhov tseem ceeb.
- Yog koj xav tias koj muaj cov tsos mob, lossis muaj keeb kwm tsev neeg, nrog koj tus kws kho mob tham sai sai.
- Muaj cov kev kho mob zoo uas tswj tau cov tsos mob thiab tiv thaiv kev mob yav tom ntej. Tsis tas yuav ntshai; ua haujlwm nrog koj tus kws kho mob.
AHP, Mob Porphyria Mob Siab Hnyav, Porphyria, mob plab, mob hlwb, cov kab mob caj ces, heme, hemoglobin, porphyrin, cov kab mob tsis tshua muaj
