"Porphyria" tih hi i hre tawh em? He natna rare tak chungchang hi han sawi ila!

I taksa chhunga thil thleng buaithlak tak leh mak tak mai chu "Heme" tih thil siam chhuah hi a ni. He Heme hi kan thisen rawng sen siamtu leh taksa pum puia oxygen phurtu Hemoglobin siamna atan a pawimawh hle. Chu mai pawh ni lovin, he Heme hian kan cell chhunga hna pawimawh dang tam takah a pui bawk. Mahse, a chang chuan he Heme siam chhuah dan hi a kal sual thei a ni. Chutih lai chuan natna chi khat, "Porphyria" an tih, natna chi hrang hrang zinga mi condition a lo awm ta a ni. Ngaihtuah buai suh, he thu hi awlsam takin sawi ila.

Porphyria hi eng nge ni tak tak?

A awlsam zawngin sawi ila, porphyria hi kan taksaa heme siam chhuah dan tichhe thei natna hmuh tur awm lo pawl hming hman tlanglawn tak a ni. Hetiang hian han ngaihtuah teh, heme siam hi step riat chhunga thil harsa tak ang mai a ni. Heng step tin hian hna tha tak thawk tur chuan enzyme bik pariat a mamawh a ni. Enzyme hi kan taksaa chemical reaction ti chaktu protein a ni. Hemi kawngah hian chemical "porphyrins" leh "porphyrin precursors" an tih te pawh an tel ve bawk.

Tunah chuan han ngaihtuah teh, heng step pariat zinga pakhata enzyme pakhat hian hna a thawk tha lo a nih chuan eng nge thleng ang? Chuta tang chuan buaina chu a intan ta a ni. Chain reaction ang maiin chu enzyme chuan hna a thawh loh chuan a hmaa lo awm porphyrins leh porphyrin precursors te chu taksa cell chhungah an awm khawm tan thin. Hetiang chemical awmkhawm hian porphyria symptoms a thlen thin.

I ngaihtuah mai thei, "Engvangin nge he enzyme hian hna a thawh that loh?" A tam zawkah chuan a chhan chu genetic mutation vang a ni. Chu chu, heme siamna kawnga enzyme pakhat code tu gene-ah inthlak danglamna a awm tihna a ni. He natna, porphyria an tih hi thlahthlam atanga lo chhuak a ni fo thin. Chu chu he genetic mutation hi chhungkaw member dangte hnenah pawh a kai thei tihna a ni. Chutiang a nih chuan porphyria an nei thei bawk a, natna kengtu an ni thei bawk.

Mahse, lungngai suh. Hetiang natna hi i nei tih i hriat chuan i doctor chuan i natna lan chhuah dan tur a enkawl thei che a, a veng thei bawk. Hei hian heng dinhmunte hian i nunah nghawng a neih chu tihtlem nan a pui thei a ni.

Porphyria chi hrang hrang a awm em?

Ni e, porphyria hi chi riat vel a awm. Doctor-te chuan an vai hian "the porphyrias" an ti vek a ni. Doctor-te chuan i symptoms a zirin eng porphyria chi nge i neih tih leh i taksaah khawiah nge chutiang extra chemicals ka sawi tawhte chu a khawlkhawm tih an rel ang.

A tlangpuiin heng porphyria chi hrang hrangte hi an natna lan chhuah dan azirin group lian pahnih ah then theih a ni:

• Acute Porphyrias (a then chuan "Acute Hepatic Porphyrias" tia koh) .
• Vun atanga lo chhuak Porphyrias

Porphyrias natna (Acute Porphyrias) a ni

He natna pawl hian pum na na tak leh symptom dang a thlen thei a ni. Acute porphyrias chi thenkhat chuan i vun chu ni êng lakah a sensitive thei a, vun a ti na thei bawk.

Acute porphyrias chi thenkhat chu hetiang hi a ni:

• Acute Intermittent Porphyria (AIP): Hei hi acute porphyria chi khat zingah chuan a tam ber a ni. Pum natna rang tak, na tak a thlen thei a, mahse ni eng emaw vun hring emaw lakah sensitivity a awm lo.
• Hereditary Coproporphyria (HCP): Pum natna nghal mai bakah hian i vun chu ni êng leh blister lakah a sensitive thei bawk.
• Variegate Porphyria (VP): Hetiang dinhmunah hian i pum a na nghal thei a,/ emaw vun a hring chhuak nghal thei bawk. Chungte chu ni ênga kan awm chuan a pawi zawk thei.
• ALAD tlakchhamna porphyria: ALAD hi enzyme "delta-aminolevulinic acid (ALA) dehydratase" tihna a ni. Hei hi porphyria chi khat hmuh tur awm lo tak a ni a, naupan lai hian a lan chhuah dan a lang tlangpui.

Vun atanga lo chhuak Porphyrias

He natna pawl hian ni ênga kan awm chuan vun natna a thlen ṭhin. Chung zingah chuan natna, vun rawng danglam, vun hring, leh/ emaw, vun hring chhuak te pawh a tel thei. A chhan bulpui a zirin mi thenkhat chuan vunah hian Cutaneous Porphyrias an tih chu an nei thei a, thenkhat erawh chuan vunah hian blistering form an nei lo thei thung.

Blistering Cutaneous Porphyrias chi hrang hrang: 1.1.

• Porphyria Cutanea Tarda (PCT): Hei hi porphyria chi khat zingah chuan a tam ber a ni.
• Congenital Erythropoietic Porphyria (CEP): "Erythropoietic" tih hian i ruhro a kawk a. Hei hi he natnaah hian extra porphyrins awmkhawmna hmunpui ber a ni. Hei hi porphyria chi khat a ni bawk.

Non-blistering Cutaneous Porphyrias chi hrang hrang: 1.1.

• Erythropoietic Protoporphyria (EPP) leh X-linked Porphyria (XLP): Hengte hi "the protoporphyrias" an ti bawk a, a chhan chu heng natna hrang hranga chemical awmkhawm chu "protoporphyrin" a nih vang a ni. "X-linked" tih hian X chromosome-ah hian genetic mutation a awm tihna a ni.
• Hepatoerythropoietic porphyria natna hi a awm thei lo.Hei hi porphyria chi khat, a tlem hle bawk.

Porphyria natna lan chhuah dan chu engte nge ni?

I natna lan chhuah dan leh eng chen nge a awm tih chu porphyria i neih chi hrang hrangah a innghat ang. Symptoms hi a na lo hle thei a, a na hle thei bawk. Porphyria vei thenkhat chuan symptoms an nei lo thei. Mahse, a then phei chuan heng symptoms te hi uluk taka enkawl loh chuan nunna atana hlauhawm tak a ni thei.

Acute Porphyria natna lan chhuah dan

Acute porphyrias hi heme precursors aminolevulinic acid (ALA) leh porphobilinogen (PBG) te a pun vang a ni. Heng thilte hian i nervous system hnathawh dan a nghawng a ni. Ngaihtuah teh, i taksa ruhte tihchet atanga ei tur ei chhuah thlengin nervous system hian a thunun vek a ni. Porphyria hian nervous system a ti tha lo a, "attack" ang chi symptoms a siam thin.

Acute porphyria hian natna lan chhuahna a thlen thei a, chungte chu:

• A pum na tak a ni
• Nausea leh luak chhuak
• Ek khal
• A rilru, hnungzang, kut leh/ emaw keah natna
• Hlauhthawnna
• Mu thei lo
• Rilru lama inthlak danglamna, buaina, buaina, leh thil hmuh loh (hallucinations) te
• Hnathawh hahthlak tak a ni
• Lung natna chak tak (Tachycardia) .
• Thisen sang a sang
• A rilru a buai em em a, a rilru a buai em em bawk a (Paresthesia) .
• Muscle chak lohna emaw paralysis emaw (hei hian thawkna atana puitu muscle te pawh a nghawng thei bawk) .
• Seizures a awm thin
• Zun dum emaw sen emaw (porphyrin leh chemical dangte hian zun rawng a thlak danglam thei) .

Hereditary coproporphyria ``(HCP)`` emaw variegate porphyria ``(VP)`` emaw i neih chuan i vun hi ni êng lakah a sensitive thei. Ni ênga awm hian vun a ti na thei a, vun a tidanglam thei a, vun a tidanglam thei bawk.

Acute porphyria hi eng chen nge a awm theih?

Hetiang attack hi ni thum atanga ni sarih thleng a awm thei. Mahse, a bik takin enkawl loh chuan a rei zawk thei. Symptoms te chu a bo vek theih nan kar tam tak atanga thla tam tak a ngai thei. I dam chhungin attack vawi khat emaw, tlemte emaw chauh i nei thei. Mahse, mi thenkhat chuan kum khat chhungin vawi tam tak attack an nei thei.

Acute porphyria hian hun rei tak chhung harsatna a thlen thei a, chu chu thisen sang, kal (kidney failure), leh a tlem berah chuan liver cancer te a ni.

Non-blistering Cutaneous Porphyrias (EPP/XLP) natna lan chhuah dan .

Cutaneous porphyrias hian ni eng i hmuh hian vun natna a thlen thin. Hei hian pawn lama ni êng direct a huam a, chubakah window aṭanga ni êng lo lut pawh a huam tel bawk. Artificial light chi thenkhat chuan symptoms a thlen thei bawk. Hetiang porphyria chi hian pum na tak, na tak emaw, "attack" ang chi symptom dang emaw a thlen lo.

Ni eng avanga reaction i neih tan chuan a tir lamah chuan tingling sensation i nei thei. Ni atanga i chhuah vat loh chuan doctor-te'n "phototoxic reaction" an tih chu i nei thei a ni. Hetiang vun natna hi i nei thei a, a bik takin i hmai, kut leh keah te:

• Itching a ni
• Numbness a awm
• Vung
• A natna hmunah natna nasa tak a awm
• Vunah hian a sen te te, a sen emaw, a sen emaw a awm (`(Petechiae)`) .

Heng reaction te hi a na hle a, a tlangpuiin ni hnih atanga ni nga chhung a awm thin. In chhungah awm tum la, a natna hmunte chu tihlum tum tur a ni (entir nan, air conditioner atanga boruak lum tak hmangin).

Blistering Cutaneous Porphyrias natna lan chhuah dan

Porphyria Cutanea Tarda (PCT) hmanga enkawl a ni.

PCT vei te hian hetiang hian symptoms an nei thei a:

• Skin blisters (kut hnung lamah a awm fo) .
• Scars a awm
• Vun rawng a danglam
• Vun thicking (thickening) a awm
• Vun chhe tak, hliam emaw, pressure tlemte emaw pawh ni se, awlsam taka a chhe thei
• Sam sei lutuk (a tam zawkah chuan hmaiah, hmai sir lamah emaw, hmui ang hmunah emaw) .

Congenital Erythropoietic Porphyria (CEP) atanga lo chhuak a ni.

He porphyria natna khirh tak hi a pian hnu lawkah emaw, a naupan lai emaw pawhin a lan chhuah tan thin. A chhinchhiahna hmasa ber chu zun sen a ni. Naute diaper-te chu a sen vek avangin doctor-te chu zun kawng infection a awm leh awm loh enfiah hmasa turin an thlem fo thin.

CEP chhinchhiahna leh chhinchhiahna dangte chu:

• Ni êng tlemte emaw fluorescent light emaw pawh nise vun natna nasa tak
• Blisters te hi a infect a, ruh natna leh ruh tichhe thei a ni
• Hmai hmun thenkhat (beng leh hnar ruh) hloh .
• Ha chu grey-brown a lo ni ta
• Anemia - Hei hian thisenah thisen sen (red blood cells) a tlakchham tihna a ni. A chang chuan thisen pek a ngai thin.
• Spleen lian tham tak a awm
• Platelet count hniam (`(Platelet count hniam)`)

Porphyria hi engte nge ni?

Acute porphyria hi gene thenkhat inthlak danglamna avanga lo awm a ni. Mahse, genetic change i rochun vang mai mai chuan porphyria symptoms i nei dawn tihna a ni lo.Porphyria nena inzawm genetic change nei tam tak chuan symptom an nei lo. Hei hian genetic testing ringawt pawh hian a diagnosis chu a nemnghet thei lo tihna a ni. I natna lan chhuah dan hi acute porphyria vang a ni em tih chiang taka hriat theihna awmchhun chu i zun-ah ALA leh PBG level test hi a ni.

Mithiamte chuan thil dang, hormone, damdawi thenkhat, leh i ei leh in te hian acute attack lo awm tannaah hian chanvo a nei thei niin an ngai. Acute porphyria nena inzawm genetic mutation neia piang i nih chuan heng thil dangte hian attack a tizual thei a ni.

Hetiang attack chi hrang hrang tichhuak thei thilte chu:

• Hmeichhe sex hormone level sang (entir nan, thla tin i thlasik hun chhung luteal phase-ah) .
• Damdawi thenkhat (entir nan, mutna damdawi, naupai venna damdawi) .
• Zu in tam lutuk
• Meizial zuk
• Carbohydrate ei tlem (entir nan, chaw nghei emaw, ei leh in bik zawm emaw) .

Porphyria Cutanea Tarda (PCT) natna thlentu te .

PCT hi porphyria chi khat a ni a, puitlingah a awm tlangpui a, porphyria chi dang nen chuan a danglam deuh hlek a ni. Doctor-te chuan "acquired causes" an ti. Hei hian genetic mutation nei lo mah la, he natna hi i nei thei tihna a ni.

A tlangpuiin risk factor pahnih emaw a aia tam emaw an inzawm khawm chuan heme production pangngai a tibuai thin. Chutiang thilte chu:

• Estrogen hman (entir nan, naupai venna pill emaw hormone thlak danglamna damdawi emaw) .
• Zu in tam lutuk
• Taksa chhunga iron level sang (`(Iron overload / hemochromatosis)`) .
• Hepatitis C natna vei a ni
• HIV hrik kai
• Meizial zuk

He natna hi Doctor ten engtin nge an hriat chian?

Doctor-te chuan porphyria hi taksa enfiahin leh lab test hmangin an hmuchhuak thin. Heng test zinga pakhat emaw a aia tam emaw i nei thei ang:

• Thisen test a ni
• Zun test a ni
• Stool test neih a ni

I doctor chuan eng test nge i neih a ngai tih leh test tin hian eng nge a hmuh theih tih a hrilhfiah ang che. I doctor chuan nangmah leh i chhungkaw dangte tan pawh genetic test neih a rawt thei bawk. Hei hian porphyria thlen thei gene inthlak danglamna bik a hriat theih a ni.

Porphyria hi engtin nge enkawl a nih?

Enkawl dan tur chu porphyria i neih chi leh a nghawng danah a innghat a ni. I doctor chuan i dinhmun bik atan eng nge tha ber tih a hrilhfiah ang che. Hetah hian thil tlangpui i beisei theih tur thenkhat tarlan a ni.

Acute Porphyrias enkawl dan

Acute porphyria i neih chuan "attack" i neih hunah damdawi inah enkawl i ngai mai thei. Damdawi inah chuan doctor-te chuan a hnuaia mi pakhat emaw a aia tam emaw an ti ang:

• ALA leh PBG level tihhniam nan damdawi pek (hemin infusion) .
• Natna, rilru hahna, leh/ emaw epileptic status enkawlna atana damdawi pek
• IV (intravenous) tui pek
• I electrolyte level enfiah a, a tul chuan replenish
• I rilru dinhmun inthlak danglamna ngaihven

Nakin lawka attack lo awm tur venna atan i doctor chuan givosiran tih damdawi a pe thei ang. Hei hi thla tin injection a ni a, ALA leh PBG overproduction a titawp a ni.

Tin, triggering factors te pawh i pumpelh a ngai bawk ang:

• Damdawi thenkhat
• Chaw nghei leh calorie tihtlem dan thenkhat
• Zu in hman dan
• Zuk leh hmuam hman
• Ni chhuahna (VP emaw HCP emaw i neih chuan) .

Cutaneous Porphyrias enkawl dan tur

Cutaneous Porphyria chi hrang hrang i nei a nih pawhin i vun hi a natna lan chhuah loh nan venhim a pawimawh hle. Sunscreen ringawt pawh hi a tawk lo tlangpui. A tha ber chu a theih ang anga ni chhuahna hmuna awm loh hi a ni. Ni chhuahnaah i awm a ngai tak tak a nih chuan ni laka invenna thawmhnaw ha rawh. I doctor chuan i tana tha ber tur a hrilh ang che. Artificial light chi hrang hrang pawh i pumpelh a ngai mai thei bawk.

EPP/XLP enkawl dan tur

I doctor chuan afamelanotide tih damdawi a pe thei ang. Hei hi implant te tak te tak a ni. I doctor chuan i pum chhunga vun hnuaiah a dah ang. Implant atanga damdawi chhuak hian ni chhuahna avanga natna lanchhuahna a tihziaawm theih nan a pui dawn a ni. I doctor pawhin i liver function a enfiah fo ang a, i vitamin D level a hniam loh nan a enfiah bawk ang.

EPP/XLP vei te hian gallstone an nei tam zawk. EPP/XLP vei thenkhat chuan liver abnormalities an nei thei bawk. A nasat chuan liver failure a awm thei. Hei hian liver transplant a ngai thei a, a chang chuan bone marrow transplant a ngai thei bawk.

PCT enkawl dan tur

Doctor chuan hetiang hi a pe thei a:

• Phlebotomy : A hun taka thisen tlem te lakchhuah hian taksa atanga iron tam lutuk chu a paih chhuak thin. Hei hian iron overload hian heme siamna a tibuai a nih chuan a pui thei a ni.
• Low-dose hydroxychloroquine: He damdawi hian i taksa atanga porphyrin tam lutuk te chu a paih chhuak thei a ni. I zun ah an chhuak thin.

CEP enkawl dan tur

Ni êng leh fluorescent light laka inven a pawimawh hle a, chu chuan blistering leh complication a awm loh nan. Blistering a awm chuan antibiotic cream hman a ngai mai thei. Infection a nasat chuan oral emaw IV emaw antibiotics a ngai mai thei.

I doctor chuan thisen pek a ngai em tih hriat tumin i hemoglobin level a enfiah fo ang. A natna khirh zualte tan chuan ruhro (bone marrow transplant) a ngai mai thei. Hei hi natna tihdamna awmchhun a ni.

Engtikah nge Doctor ka hmuh ang?

Porphyria i neih chuan i doctor hnena check-up (``follow-ups'') neih fo chu i nunah a tel ve dawn a ni. I doctor chuan i appointment-a i lo kal hun tur chu a hrilh ang che. Heng appointment te hi natnain i taksa a nghawng dan enfiah nan leh harsatna awm thei chhinchhiahna eng pawh hmuh theih nan a pawimawh hle. Thisen leh zun test reng reng i mamawh ang a, chubakah taksa peng dangte hnathawh dan enfiah nan test i mamawh bawk ang.

Porphyria vei chuan eng ang hmalam hun nge a beisei theih ang?

I thlirna chu heng thilteah hian a innghat a ni:

• Porphyria i neih chi hrang hrang
• Engtiang chiahin nge a nghawng che
• Harsatna lo awm apiang

I doctor chuan hmalam hun atana i beisei tur dik ber chu a pe thei che a ni.

Porphyria hian i nitin nunah nghawng lian tak a nei thei a ni. Natna lan chhuahna na tak chuan i thiltih pangngai a tibuai thei a, hnathawh a harsat phah thei a, chhungte enkawl a harsa thei a, hobby nuam tak a ti thei bawk. Taksa leh rilru lamah pawh i chau hle mai thei.

I doctor hnenah i rilru put hmang hrilh rawh. Amah hian i tanpui thei tur resources leh support group te a hrilh thei che a ni. Porphyria community nena inzawmna siam hian i dinhmun hriat belh leh enkawl dan tur i zawng thei a ni.

Porphyria ang natna hmuh tur awm lo tak nena nun chu mahni chauha awm, lungngaihna leh hlauhawm tak a ni thei. I chhungte leh i thiante chuan i rilru put hmang hi hrethiam se i duh mai thei. I porphyria chungchang hi midangte hrilhfiah a, thil engemaw i tih theih loh chhan zawh a ngai mai thei.

Khawi hmunah pawh awm la, nangmah chauh i ni lo tih hria ang che.Natna dang tam tak nena khaikhin chuan porphyria hi a tlem hle nachungin, khawtlang lian takin tanpui turin an nghak reng che a ni. Online porphyria support group-ah tel la, a nih loh leh i doctor hnenah pakhat refer turin hrilh rawh. I rilru put hmang hrethiam mi i hmuh chuan nun chhoh leh hniamte hmachhawn chu a awlsam phah hle thei a ni.

Hemi atanga kan zir tur pawimawh ber (Take-Home Message) .

Porphyria hi natna khirh tak leh hmuh tur awm lo tak a ni. Amaherawhchu, chumi chungchânga zirtîrna i neih a, i doctor thurâwn zawm a, i natna lan chhuahna tizual thei thilte i pumpelh chuan he natna hi hlawhtling takin i nung thei a ni. I taksa, i symptoms te ngaihven a, a hun taka doctor pan a pawimawh. Nangmah chauh i ni lo tih hre reng la, tanpuina dîl hreh ngai suh.

` Porphyria, heme, porphyrin, enzyme, genetic natna, vun natna, pum na