Dab tsi ua rau mob porphyria tsis sib xws?

2024 Tus sau: Michael Samuels | [email protected]. Kawg hloov kho: 2023-12-16 01:44

AIP yog tshwm sim los ntawm qib qis ntawm porphobilinogen deaminase (PBGD), ib qho enzyme tseem hu ua hydroxymethylbilane synthase. Cov qib qis ntawm PBGD feem ntau tsis txaus los ua cov tsos mob; txawm li cas los xij, ua kom muaj ntau yam xws li cov tshuaj hormones , tshuaj, thiab kev hloov zaub mov noj tuaj yeem ua rau muaj tsos mob.

Los ntawm qhov ntawd, dab tsi yog tsis sib xws porphyria?

Mob sib quas ntus porphyria (AIP) yog qhov tsis tshua muaj autosomal tseem ceeb cov teeb meem metabolic cuam tshuam rau kev tsim cov heme uas tshwm sim los ntawm qhov tsis muaj ntawm porphobilinogen deaminase. Nws yog qhov feem ntau ntawm cov mob porphyrias.

Ib yam li ntawd, yam tshuaj twg ua rau porphyria? Lwm yam muaj xws li tshuaj (xws li barbiturates , hydantoins, lwm yam tshuaj antiepileptic, thiab sulfonamide tshuaj tua kab mob-saib cov tshuaj yeeb tshuaj thiab Porphyria) thiab cov tshuaj hormones (progesterone thiab lwm yam steroids), tshwj xeeb tshaj yog cov uas induce hepatic ALA synthase thiab cytochrome P-450 enzymes.

Ua qhov no hauv kev txiav txim siab, yog mob ib ntus porphyria tuag taus?

Mob neurovisceral nres ntawm porphyria tuaj yeem ua rau muaj kev phom sij. Lawv tsis tshua muaj txiaj ntsig thiab nyuaj rau txheeb xyuas hauv tsev kho mob, tab sis yuav tsum tau txiav txim siab, tshwj xeeb hauv cov poj niam cov neeg mob uas mob plab tsis tau piav qhia, thiab cuam tshuam txog kev puas siab puas ntsws lossis puas hlwb lossis hyponatraemia.

Tus kab mob porphyria zoo li cas?

Feem ntau tau tshaj tawm cov tsos mob tsis zoo yog qhov mob hnyav cuam tshuam rau lub plab, nraub qaum, lossis ceg tawv; lwm yam nres Cov tsos mob thiab cov tsos mob muaj xws li xeev siab thiab ntuav, cem quav, kub siab, lub cev muaj zog tsis muaj zog, insomnia, lossis ntxhov siab [1–3, 5].