Porphyria chu eng nge ni? He natna rare tak hi a awlsam zawngin i zir chiang ang u

I ngaihtuah phak loh khawpa i pum natna nasa tak i nei nghal tawh em? A nih loh leh ni chhuahna hmuna i chhuah hian blister leh kang ang chi natna tuar theih loh i nei em? Heng thil hnung lamah hian ‘Porphyria’ an tih, kan rama mi tam takin an la hriat ngai loh thil awm lo tak a ni thei. A hming hi a mak deuhin a lang thei a, mahse hei hi kan taksaa chemical process kal sual avanga lo awm a ni. Chuvangin he thu hi awlsam takin sawi ila, kan thianpa hnenah kan sawi ang maiin.

A awlsam zawngin, Porphyria chu eng nge ni?

Hei hi hrethiam tur chuan kan thisen hi han thlir hmasa ila. Kan thisen hi a rawng a sen a, taksa pum puiah oxygen a keng tel a, a chhan chu thil bik ‘heme’ tih a awm vang a ni. Kan taksaa he ‘heme’ siam chhuah hi factory lian tak hnathawh ang mai a ni. Thil kalphung buaithlak tak a ni a, step riat (8)-a kal a ni.

Chaw ei tur i siam lai han mitthla teh. Level hrang hrangah thil hrang hrang i dah belh a ngai a, step by step. Chutiang bawkin he ‘heme’ siamna kawng tinrengah hian protein bik enzyme an tih te pawh a awm bawk. Step tin atan enzyme hrang hrang a awm a.

Porphyria hi heng step pariat zinga pakhat a tihbuai a, a mawhphurtu enzyme hian hna a thawk tha lo a nih chuan a lo awm thin. Chumi awmzia chu heme siamna atana siam chhuah porphyrins leh porphyrin precursors an tih chemical te chu taksa atangin lakchhuah a ni lo va, chu ai chuan cell chhungah a pung khawm tan zawk tihna a ni. Factory production line-a machine a chhiat chuan bungrua a pile up ang mai a ni. Heng chemicals te taksaa a khawlkhawm hian natna lanchhuahna chi hrang hrang a thlen thin a ni.

A tam zawkah chuan heng enzyme tlakchhamna chhan hi chhungkaw hrang hranga kal thin genetic mutation vang a ni. Hei hian chhungkaw zingah he dinhmun hi a kal zel theihna chance a awm tihna a ni. Mahse lungngai suh, doctor thiam tak takte chuan he natna hi an hriat theih nan an pui thei a, a natna lan chhuah dan tur an enkawl thei a, i nunah nghawng a neih dan pawh an tihtlem thei bawk.

Porphyria chi hrang hrangte chu engte nge ni?

Porphyria hi chi hrang hrang 8 vel a awm a. Mahse an natna lan chhuah dan a zirin group lian pahnih ah then theih vek an ni. Hei hi hriat reng a awlsam hle.

Tunah chuan heng category pahnih subtype te hi han thlir ila.

Acute Porphyrias chi hrang hrang

Heng chi hrang hrangte hi "attack" rang tak thlentu an ni.

• Acute Intermittent Porphyria (AIP): Hei hi acute chi hrang hrang zingah chuan a tam ber a ni. Pum natna nasa tak a thlen a, mahse vun lama harsatna a awm lo.
• Hereditary Coproporphyria (HCP): Hei hian ni chhuahnaah hian pum na leh vunah vun a ti na thei.
• Variegate Porphyria (VP): Hei hian pum na leh vun natna a thlen thei bawk.
• ALAD-Deficiency Porphyria: Hei hi a tlem hle a, a tlem hle. Naupan laia symptoms hi a lang tlangpui.

Cutaneous Porphyrias chi hrang hrang

Hengte hi vun tichhe thei chi hrang hrang an ni. Chungte chu chi hnih ah then a ni bawk a, chungte chu blisters siamtu leh blisters nei lo nana thlentu te an ni.

Porphyria vun hring (blistering cutaneous porphyria) a awm thin:

• Porphyria Cutanea Tarda (PCT): Hei hi porphyria chi khat a ni ber a, puitlingah a awm tlangpui.
• Congenital Erythropoietic Porphyria (CEP): Hei hi natna hlauhawm tak, na tak a ni. Nau piang lai hian symptoms a awm thin.

Non-vesicular vun atanga lo chhuak porphyria:

• Erythropoietic Protoporphyria (EPP) leh X-linked Porphyria (XLP): Heng chi hnih ah hian vun hi a hring chhuak ai chuan ni chhuahna hmuna kan awm chuan vun a na hle a, a na a, a hring a, a sen bawk.

He natna lan chhuah dan engte nge ni?

Porphyria i neih chi hrang hrang a zirin symptoms a inang lo hle. Mi thenkhat chuan symptoms na lo tak tak an nei a, thenkhat erawh chuan symptom na tak tak, nunna atana hlauhawm thei tak tak an nei thei bawk. Mi thenkhat chuan gene hi nei mahse symptom engmah an nei ngai lo.

Hriatthiam awlsam zawk nan heng mizia te hi category hrang hrangah i dah ang u.

Porphyria natna thlentu leh a thlen chhante chu engte nge ni?

Kan sawi tawh ang khan a chhan ber chu genetic mutation vang a ni. Mahse hetah hian thil pawimawh tak chu gene nei zawng zawng hian symptoms an nei vek dawn lo tih hi a ni. Mi tam tak chu harsatna nei lovin he gene carrier angin an khawsa a.

Acute porphyria symptoms nei "attack" a awm theih nan chuan 'trigger' engemaw zat a ngai a ni. Heng triggers te hian taksa chu ‘heme’ tam zawk a mamawh tir a, chu chuan chu process-a chak lohna chu a rawn lang chhuak a, taksaah chemical tha lo tak tak a pungkhawm ta a ni.

Trigger lian ber ber thenkhat chu hetiang hi a ni:

• Hmeichhe hormone level sang: A bik takin hmeichhia thla tin thlasik hun chhung thenkhatah.
• Damdawi thenkhat: Entîr nân, natna tidamtu ṭhenkhat, anesthetics, leh naupai venna damdawi ṭhenkhat.
• Zu in tam lutuk.
• Meizial zuk.
• Chaw ei khap: Chaw nghei emaw, carbohydrate tlem tak ei emaw.

Engtin nge doctor hian hei hi a hmuh theih?

I natna lan chhuah dan i doctor hnenah i hrilh chuan a enfiah ang che a, i chhungte zingah hetiang natna lan chhuah dan hi tu emaw chuan an nei tawh em tih a zawt ang che. Porphyria hi natna awm lo tak a nih avangin a chang chuan dik taka hriat theih nan hun rei tak a la ngai thei.

Laboratory test hi a natna hriat chian nan an ti ber a ni.

• Zun test: Acute porphyria "attack" lai hian zun chhungah ALA leh PBG an tih chemical level a sang hle. Hei hi natna hriat theihna atana test ber a ni.
• Thisen test a ni
• Stool test neih a ni

Heng test te hian eng porphyria chi nge i neih tih chiang takin a hriat theih nan a pui thei a ni. Tichuan, a tul chuan genetic testing pawh tih theih a ni.Chutianga kan tih chuan eng genetic change nge hetiang thil hi a thlen tih pawh kan nemnghet thei bawk.

Engtin nge enkawl a nih?

Porphyria i neih chi hrang hrang leh i natna lan chhuah dan nasat dan azirin enkawl dan tur a inang lo. I doctor chuan i tana tha tur treatment plan a siam ang.

Acute Porphyrias natna enkawl dan

"Attack" i neih chuan damdawi inah dah leh enkawl i ngai tlangpui .

• Damdawi pakhat ‘Hemin’ an tih chu thisenah pek a ni a, chu chuan taksaa chemical tha lo (ALA leh PBG) a khawlkhawm zat tihziaawm nan a hmang a ni.
• Damdawi dang chu natna lan chhuahna control nan pek a ni a, chu chu natna nasa tak, luak chhuak, leh seizure te hi a ni.
• Saline (IV fluids) hi taksaa dehydration leh salt level siamthat nan pek thin a ni.
• "Attack" lo awm leh tur ven nan thla tin vaccine Givosiran injection neih a tha thei ang.
• A pawimawh ber chu a hmaa kan sawi tawh trigger te kha pumpelh hi a ni.

Cutaneous Porphyrias natna enkawl dan

Heng chi hrang hrangah hian enkawlna pawimawh ber leh number one chu vun venhim hi a ni.

Tin, a chi hrang hrang a zirin enkawlna dang a awm bawk:

• EPP/XLP tan: ‘Afamelanotide’ tih hming pu implant te tak te a awm a, chu chu vun hnuaiah dah a ni. Hei atanga damdawi chhuak hian ni chhuahna avanga natna lo awm thin chu a tiziaawm a ni.
• PCT tan chuan:
• Phlebotomy: Taksa atanga iron tam lutuk paih chhuah nan thisen tlemte chu hun bituk chhungin lak thin a ni .
• Hydroxychloroquine: He damdawi hi a tlem berah hman a ni a, taksain taksaa porphyrins awmkhawmte chu zun hmangin a paih chhuak thei a ni.
• CEP tan chuan: Ni laka invenna khauh tak a pawimawh. Anemia a nasat chuan thisen pek a ngai mai thei. He natna hi tihdam vek theihna awmchhun chu ruhro (bone marrow transplant) hi a ni .

Hetiang dinhmun hi engtin nge kan nunpui ang?

Porphyria i vei tih hmuhchhuah a nih chuan i nun chu a danglam deuh ang. Doctor hnena check-up neih fo hi i nunah a tel ve dawn a ni. Hei hi a dinhmun enfiah nan leh harsatna a awm leh awm loh enfiah nan a pawimawh hle.

Hetiang natna hmuh tur awm lo tak nena nun hi rilru hahthlak tak a ni thei. A châng chuan engvangin nge nangmah chauhah hetiang thil hi a thlen tih i ngaihtuah mai thei. I doctor emaw, i chhungte emaw, i ṭhian rintlak emaw hnenah i rilru put hmang chu sawipui rawh. Hetiang natna vei te tana support group-a tel pawh hi a \angkai hle thei bawk. Nangmah chauh i ni lo tih hre reng ang che.