Yu dɔn ɛva gɛt bad bad bɛlɛ we yu nɔ bin ivin ebul fɔ imajin wantɛm wantɛm? Ɔ yu kin gɛt pen we yu nɔ go ebul fɔ bia lɛk blista ɛn bɔn we yu go na do na di san? Bihain dis tin, i kin bi wan rare sik we dem kol ‘Porphyria’, we plenti pipul fo wi kontri no ivin hie abaut. Di nem kin tan lɛk se i strenj smɔl, bɔt dis na tin we kin apin bikɔs ɔf wan kemikal we de na wi bɔdi we nɔ de go fayn. So lɛ wi tɔk bɔt dis simpul wan, lɛk se wi de tɛl wi padi.
Fɔ tɔk am simpul wan, wetin na Pɔfyuria?
Fɔ ɔndastand dis, lɛ wi tek tɛm luk wi blɔd fɔs. wi blɔd gɛt rɛd kɔlɔ ɛn i de kɛr ɔksijɛn ɔlsay na di bɔdi bikɔs i gɛt wan spɛshal tin we dɛn kɔl ‘heme’ . Di prodakshɔn fɔ dis ‘heme’ na wi bɔdi tan lɛk di wok we big faktri de du. Na kɔmpleks prɔses we de apin insay et (8) stɛp dɛn.
Imajin se yu de kuk wan it. Yu fɔ ad difrɛn tin dɛn na difrɛn lɛvul dɛn, stɛp bay stɛp. semweso, spεshal protin dεm de we dεn kכ l εnzym dεm fכ εp wit εvri stεp fכ mek dis ‘hεm’. Difrɛn ɛnzaym de fɔ ɛni stɛp.
Pɔfyuria kin apin we wan pan dɛn et step ya dɔn ambɔg, ɛn di ɛnzaym we de du am nɔ de wok fayn. dis min se kεmikכl dεm we dεn k כl pכfyurin εn pכfyurin prεkursכr dεm we dεn de mek we dεn de mek hεm, dεn nכ de kכmכt na di bכdi εn insted dεn de bigin fכ kכlכm insay di sεl dεm. I tan lɛk we mashin brok na faktri prodakshɔn layn, di guds kin bɔku. Di we aw dɛn kemikal ya kin gɛda na di bɔdi na in kin mek pɔsin gɛt difrɛn sayn dɛn.
bכku tεm, di kכz fכ dεn εnzym dεm ya we nכ de na di jεnεtik mכtεshכn we de rכn insay famili dεm. Dis min se chans de fɔ mek dis kɔndishɔn go rɔn na famili. Bɔt nɔr wɔri, dɔktɔ dɛm wae sabi du dis kin ɛp fɔ no bɔt de sik, kɔntrol de sik, ɛn ridyus di impak wae e kin gɛt pan yu layf.
Wetin na di men kayn pɔrfyuria?
Na lɛk 8 men kayn pɔfyuria de. Bɔt dɛn kin sheb dɛn ɔl to tu men grup bay di sayn dɛm we dɛn gɛt. Dis na tin we rili izi fɔ mɛmba.
| Men Grup | Simpul ɛksplen |
|---|---|
| Akyu Pɔfyuria | Insay dis kayn, sɔm kayn sik kin kam kwik kwik wan. Di men sayn na di bɛlɛ pen bad bad wan. I kin mek prɔblɛm bak wit di nervɔs sistɛm. |
| Pɔfyria we de na di skin | As di nem sho, i kin afɛkt di skin mɔ. We di san de shayn, di skin kin vɛks, i kin fil pen, ɛn i kin swel. |
Naw lɛ wi tek wan luk pan di sɔbtayp dɛn fɔ dɛn tu kategori ya.
Tayp dɛn fɔ Akyu Pɔfyuria
Dis na di kayn dεm we de mek "attak" dεm wantεm wantεm.
- Akyu Intamitεnt Pכfyuria (AIP): Dis na di mכst kכmכn pan di akyu tכp dεm. I kin mek yu bɛlɛ pen bad bad wan, bɔt nɔ gɛt prɔblɛm wit yu skin.
- Hereditary Coproporphyria (HCP): Dis kin mek yu bɛlɛ pen ɛn blista na di skin we yu de na di san.
- Variegate Porphyria (VP): Dis kin mek bak yu bɛlɛ pen ɛn yu gɛt blista na yu skin.
- ALAD-Deficiency Porphyria: Dis kin rili, rili rare. Bɔrku tɛm, di sayn dɛm kin sho wae dɛn smɔl.
Tayp dɛm fɔ Cutaneous Porphyrias
Dɛn kayn tin ya kin afɛkt di skin. Dɛn kin sheb dɛn tin ya bak to tu kayn: di wan dɛn we kin mek pɔsin gɛt blista ɛn di wan dɛn we kin mek pɔsin fil pen we nɔ gɛt blista.
Blistering cutaneous porphyria we de mek pɔsin gɛt blista:
- Porphyria Cutanea Tarda (PCT): Dis na di kayn pɔrfyuria we kin apin pas ɔl, ɛn i kin apin we pɔsin big.
- Congenital Erythropoietic Porphyria (CEP): Dis na wan sik we nɔ kin apin so ɔltɛm, we kin rili bad. Di sayn dɛm kin de we dɛn bɔn am.
Nɔn-vɛsikul kɔtnɛs pɔfyuria:
- Erythropoietic Protoporphyria (EPP) ɛn X-linked Porphyria (XLP): Insay dɛn tu kayn ya, pas fɔ mek di skin gɛt blista, di skin kin fil bad bad wan, i kin inflam, i kin swel, ɛn i kin rɛd we i de na di san.
Wetin na di sayn dɛm fɔ dis sik?
Di sayn dɛm kin difrɛn bad bad wan fɔ di kayn pɔrfyuria wae yu gɛt. Sɔm pipul dɛn kin gɛt sɔm kayn sik wae nɔr kin pasmak, wae ɔda pipul dɛn kin gɛt siriɔs sayn wae kin mek dɛn layf de pan denja. Sɔm pipul dɛn kin gɛt di jin bɔt dɛn nɔ kin ɛva gɛt ɛni sayn atɔl.
Lɛ wi kategoriz dɛn kwaliti ya fɔ mek i izi fɔ ɔndastand.
| Kategori fɔ di simptom dɛn | Di tin dɛn we pɔsin kin si |
|---|---|
| Durin wan akyu pɔfyuria atak | |
| Dijestiv sistɛm | Bɛlɛ pen we yu nɔ go ebul fɔ bia, wantɛm wantɛm, bad bad wan , nɔs ɛn vɔmit, kɔnstipɛshɔn. |
| Nɛvɔ sistɛm ɛn di we aw pɔsin de tink | Pen na yu an, yu leg, yu chɛst, yu bak, yu de wɔri, yu nɔ de ebul fɔ slip, yu de kɔnfyus yu maynd, yu de si tin dɛn we yu de si, yu an ɛn yu an dɛn de swɛ (paresthesia) , yu mɔsul dɛn wik ɔ yu paralayz (we kin ivin afɛkt di mɔsul dɛn we de blo), ɛn yu kin gɛt sik. |
| At ɛn blɔd prɛshɔn | Hat rit we de go ɔp (tachycardia) , ay blɔd prɛshɔn. |
| Ɔda tin dɛn we de apin | Yurin de tɔn dak (rɛd ɔ brawn). |
| Insay Kutan Pɔfyuria | |
| Di kayn dɛn we nɔ de blista (EPP/XLP) . | We di san de shayn (ivin frɔm winda), di skin kin swɛla, i kin it, i kin swel, ɛn i kin fil pen . Dis pen kin te fɔ tu to tri dez. |
| Di kayn blista dɛn (PCT/CEP) . | Blista dɛn na say dɛn we di san de shayn (espɛshali di bak pat na di an) .Di we aw skata kin tan, di krak krak ɛn skata, di skin in kɔlɔ kin chenj, di skin kin tik, di skin kin te ivin smɔl tin , ɛn di ia we de na di fes kin gro pasmak. |
wan akyu pכfyuria "atεk" kin las bitwin 3-7 de dεm, εn if dεn nכ trit am, i kin las fכ wik כ ivin mכnt.
Wetin na di tin dɛm wae kin mek pɔrsin gɛt pɔrfyria?
As wi bin dɔn tɔk, di men rizin fɔ dis na we di jɛnɛtik chenj. Bɔt di impɔtant tin ya na dat nɔto ɔlman we gɛt di jin go gɛt di sik. Bɔku pipul dɛn de liv lɛk pipul dɛn we gɛt dis jin we nɔ gɛt ɛni prɔblɛm.
fכ "atak" wit di simptom dεm fכ akyu pכfyuria fכ apin, wan sכm 'trigεr' nid fכ apin. dis trigεr dεm de mek di bכdi nid mכr ‘hεm’, we de mek di wik we de insay da prכsεs de sho, εn kεmikכl dεm we de du bad kin kam togεda na di bכdi.
Na sɔm pan di men tin dɛn we kin mek pɔsin gɛt dis sik:
- di uman in hכmon lεvεl dεm we de go כp: εspεshali insay sכm tεm dεm we uman de mεnstral saykl εvri mכnt.
- Sɔm mɛrɛsin dɛn: Fɔ ɛgzampul, sɔm mɛrɛsin dɛn we de mek pɔsin fil pen, we de mek pɔsin nɔ fil fayn, ɛn tin dɛn we de mek pɔsin nɔ bɔn pikin.
- Fɔ drink rɔm pasmak.
- Fɔ smok.
- Fɔ stɔp fɔ it: Fɔ fast ɔ it tin we nɔ gɛt bɔku kabɔhaydrɛt.
Porphyria Cutanea Tarda (PCT) na wan kayn we we difrɛn smɔl. I kin bi bikɔs ɔf ɔda tin dɛn we de na do pas di jɛnɛtiks. fכ egzampl, dis kכndyushכn kin kכz fכ tin dεm lεk di ayron we pasmak na di bכdi (hεmochromatosis), Epatitis C כ HIV infεkshכn, εn we i de drink pasmak.
Aw dɔktɔ kin fɛn dis?
We yu tɛl yu dɔktɔ bɔt yu sik, i go chɛk yu ɛn aks if ɛnibɔdi na yu famili dɔn gɛt dis kayn sik. Bikɔs pɔfyuria na sik we nɔ kin bɔku, sɔntɛnde i kin tek sɔm tɛm fɔ no am kɔrɛkt wan.
Dɛn kin du laboratori tɛst mɔ fɔ kɔnfɔm di diagnosis.
- di tεst dεm fכ di urine: we di akyu pכfyuria "atכk" de, di lεvεl dεm fכ di kεmikכl dεm we dεn kכl ALA εn PBG na di urine de rili hכy. Dis na di men tɛst fɔ no di sik.
- Blɔd tɛst dɛn
- Stɔl tɛst dɛn
Dɛn tɛst ya kin ɛp fɔ no uskayn kayn pɔfyuria yu gɛt. Dɔn, if nid de, dɛn kin du tɛst fɔ no if pɔsin gɛt jɛnɛtiks.We wi du dat, wi kin kɔnfirm bak wetin chenj na di jɛnɛtiks bin mek dis apin.
Aw dɛn kin trit am?
Di tritmɛnt opshɔn dɛn kin difrɛn difrɛn wan fɔ di kayn pɔrfyuria wae yu gɛt ɛn aw yu sik kin tranga. Yu dɔktɔ go mek wan tritmɛnt plan we go fayn fɔ yu.
Tritmɛnt fɔ Akyu Pɔfyuria
If yu gɛt "atak", yu kin gɛt fɔ de na ɔspitul ɛn trit yu .
- wan dכg we dεn kכl ‘Hemin’ dεn kin gi am insay di bכdi fכ ridyus di lεvεl dεm fכ di kεmikכl dεm we de du bad (ALA εn PBG) we dεn dכn gɛda na di bכdi.
- Dɛn kin gi ɔda mɛrɛsin fɔ kɔntrol di sayn dɛm lɛk fɔ fil pen bad bad wan, fɔ nɔs, ɛn fɔ gɛt sik.
- Dɛn kin gi salin (IV fluid) fɔ kɔrɛkt di wata we de kɔmɔt na di bɔdi ɛn di sɔl lɛvɛl na di bɔdi.
- Fɔ mek di "atak" nɔ kam bak, dɛn kin advays fɔ injɛkshɔn di vaysin we dɛn kɔl Givosiran ɛvri mɔnt.
- Di tin we impɔtant pas ɔl na fɔ avɔyd di trig dɛn we wi bin dɔn tɔk bɔt.
Tritmɛnt fɔ Cutaneous Porphyrias
Insay dɛn kayn tritmɛnt ya, di tritmɛnt we impɔtant pas ɔl ɛn we na fɔ protɛkt di skin.
I impɔtant fɔ protɛkt yusɛf frɔm di san. Sɔntɛm wan simpul tin fɔ protɛkt yusɛf frɔm di san nɔ go du fɔ yu. Di bɛst tin fɔ du na fɔ avɔyd di san as yu ebul. If yu go na do, yu fɔ kɔba yusɛf fayn wit lɔng klos ɛn hat.
Apat frɔm dat, ɔda tritmɛnt dɛn de we kin dipen pan di kayn we:
- fכ EPP/XLP: wan sכmכl implant de we dεn kכl ‘Afamelanotide’ we dεn kin put כnda di skin. Di mɛrɛsin we de kɔmɔt frɔm dis kin ɛp fɔ ridyus di pen we yu kin gɛt we yu de na di san.
- Fɔ PCT:
- Phlebotomy: Fɔ pul di ayron we pasmak na di bɔdi, dɛn kin tek smɔl blɔd fɔ sɔm patikyula tɛm dɛn .
- Hydroxychloroquine: Dis drɔg we dɛn kin yuz smɔl, kin ɛp di bɔdi fɔ pul di pɔfyurin dɛn we kin gɛda na di bɔdi tru urine.
- Fɔ CEP: Strikt san protɛkshɔn impɔtant. If anemia bad bad wan, i kin nid fɔ mek dɛn transfyushɔn blɔd. Di wangren we fɔ mɛn dis sik kpatakpata na fɔ transplant bon mɛro .
Aw fɔ liv wit dis sityueshɔn?
Wae dɛn dɔn no se yu gɛt pɔrfyuria, yu layf go chenj smɔl. Fɔ chɛk-ap ɔltɛm wit yu dɔktɔ go bi pat pan yu layf. Dis impɔtant fɔ wach di kɔndishɔn ɛn fɔ si if kɔmplikeshɔn dɛn de kam.
Fɔ liv wit wan sik wae nɔr kin bɔrku lɛk dis kin mek yu fil bad. Sɔntɛnde, yu go de wɔnda wetin mek dis de apin to yu wan. Tɔk to yu dɔktɔ, yu famili, ɔ yu padi we yu biliv bɔt aw yu de fil. Fɔ jɔyn sɔpɔt grup fɔ pipul dɛm wae gɛt dis sik kin ɛp bak. Mɛmba se nɔto yu wangren de.
Mɛsej we dɛn kin kɛr go na os
- Pɔfyuria na wan sik we nɔ kin apin so ɔltɛm, we kin kɔmɔt frɔm ɔda pɔsin ɛn we kin afɛkt di we aw di bɔdi de mek hεm.
- Tu men kayn dɛn de: akyu, we kin mek yu bɛlɛ pen wantɛm wantɛm, ɛn we kin mek yu skin fil bad we di san de shayn.
- I impɔtant fɔ tɛst yu urine, blɔd, ɛn stɔl fɔ no if yu gɛt di sik.
- Di we aw dɛn kin trit am kin difrɛn fɔ di kayn sik. pan akyu fכm, fכ avכyd ‘trigεr’ rili imכtant, εn insay kכtan fכm, fכ protεkt yusεf frכm san layt rili imכtant.
- If yu ɔ pɔsin we yu sabi de gɛt dɛn sik ya (especially bad bad bɛlɛ pen ɔ skin prɔblɛm we yu nɔ ebul fɔ ɛksplen we yu de na di san), duya go to dɔktɔ kwik kwik wan fɔ advays.
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