Porphyria chu eng nge ni? Hlau suh, awlsam takin sawi ila.

Ni chhuahna hmuna i chhuah hian tuar theih loh khawpin i vun a kang emaw, i vun a hring chhuak emaw i nei tawh em? A nih loh leh, chhan hriat lohvin i pum na nasa tak, luak chhuak leh luak chhuak i nei tawh em? Heng symptoms te hi natna tlangpui nen a danglam a ni . Hemi hnuaiah hian natna hmuh tur awm lo tak, mi tam takin an hriat ngai loh pawh a awm mai thei. Chu chu chutiang natna pakhat Porphyria tih chu a ni. He hming i hriat hian hlau suh. Vawiin hian he thu hi awlsam tak leh in hriatthiam theih tur angin kan sawi dawn a ni.

A awlsam zawngin, Porphyria chu eng nge ni?

Hei hi hrethiam tur chuan kan taksaa factory tlemte hi han ngaihtuah hmasa ila. Kan thisen sen (red blood cells) te rawng sen petu leh taksa peng hrang hranga oxygen phur theitu protein pawimawh tak a awm a. ‘Heme’ an ti a. He heme hi kan taksaah hian step hrang hranga siam a ni a, assembly line ang mai a ni. Car assemble ang maiin. Step tinah hian protein bik enzyme an tih te hian hna an thawk thin.

Tunah chuan han ngaihtuah teh, he production chain-a step khat a tlakbuak a nih chuan, emaw, hnathawk pakhat (enzyme) a thawk tha lo a nih chuan eng nge thleng ang? A dawt leh tur chu siam theih a ni lo va, raw materials pawh a pile up a ni lawm ni? Chutiang bawkin heme siamna step khata chhiatna a awm chuan a hmaa chemical siam chhuah, ‘porphyrins’ leh ‘porphyrin precursors’ tia koh te chu taksaah a pungkhawm tan thin. Heng chemicals te taksaa a khawlkhawm vang hian porphyria symptoms a awm thin. Chungte chuan nervous system emaw vun emaw a tichhe thei a ni.

Porphyria chi hrang hrangte chu engte nge ni?

Porphyria hi chi hnih ah then theih a ni a, a natna lan chhuah dan a zirin. He classification hi i hriatthiam chuan natna hi i hrethiam zawk ang.

Heng chi lian pahnih hnuaiah hian subtype dang engemaw zat a awm bawk. Entirnan, acute porphyria hnuaia tla `Acute Intermittent Porphyria (AIP)` tih chi leh vun porphyria hnuaia tla `Porphyria Cutanea Tarda (PCT)` tih chi hi a tam lo hle.

Symptoms lo lang thei trigger te chu engte nge ni?

Porphyria hi genetic ni mahse, a symptoms hi a lang ngai lo. Thil engemaw tak chu symptoms, a nih loh leh "attack" tichhuak thei a awm. Chungte chu ‘triggers’ an ti a. Hengte pumpelh hi natna enkawl dan tha ber a ni.

• Damdawi thenkhat: Painkiller thenkhat , birth control pill, anesthetics, leh seizure damdawi thenkhat te hian hetiang hi a thlen thei a ni. Porphyria i neih chuan damdawi eng pawh i ei hmain i doctor i biak hmasak phawt a ngai.
• Zu leh zu in : Zu in leh zu in, a bik takin a ruala zu in hi a chhan lian ber a ni.
• Diet leh chaw nghei: Low-carb diets , strict weight loss diet, leh fasting ang chi thilte hian symptoms a thlen thei.
• Rilru leh taksa lama harsatna: Hnathawh tam lutuk, rilru hahna, leh surgery ang chi thilte hian a nghawng thei a ni.
• Infection: Natna dang emaw, infection dang emaw avanga taksa chunga stress awm vangin symptoms a awm thei.
• Ni eng: Cutaneous Porphyria vei tan chuan ni êng hi a thlentu ber a ni.

Engtikah nge doctor i hmuh ang? Engtin nge diagnosis hi siam a nih?

He natna hi a tlem a, a lan chhuah dan pawh natna tlanglawn dang nen a inang em avangin, a chang chuan a hriat theih nan hun rei tak a la ngai thei a ni. A hnuaia symptoms te hi i neih chuan doctor pan a pawimawh a, a bik takin a lo lang fo a nih chuan.

Porphyria natna (acute porphyria) ah chuan

Pum natna nasa tak i neih bakah hian natna lan chhuah dan, luak chhuak, luak chhuak, chaw ei kham, thinlung chakna sang, thisen sang, taksa ruh chak lohna, buai, emaw, seizure te ang chi i neih chuan damdawi in pan nghal a pawimawh hle a, a bik takin Emergency Treatment Unit (ETU) pan nghal a pawimawh hle a, he natna hi a chang chuan nunna atana hlauhawm tak a ni thei a ni.

Cutaneous Porphyria-ah chuan a awm

Ni chhuahna hnua i vunah hian blisters, sores, inflammation, redness, scratches awlsam taka a awm chuan dermatologist pan rawh.

Diagnostic tih dan tur: 1.1.

1. Damdawi lam endikna: A hmasa berin Doctor chuan a enfiah ang che, i natna lan chhuah dan leh chhungkaw medical history uluk takin a zawt ang che.

2. Laboratory test: Porphyria rinhlelh a nih chuan i zun, thisen, leh a nih loh leh i bawlhhlawh sample te chu porphyrins level test a ni ang. A nasat chuan zun chu a rawng dum emaw, a sen emaw a lo ni thei.

3. Genetic Tests: Laboratory test hmanga natna hi finfiah a nih chuan a thlentu genetic mutation bik hriatchhuah nan genetic test neih theih a ni.

Enkawlna kawng hrang hrangte chu engte nge ni?

Porphyria enkawl dan hi natna chi leh a lan chhuah nasat dan azirin a inang lo. Damdawi awm lo mah se, natna lan chhuah dan chu thunun theih a ni a, nun pangngaia nun theih a ni.

Acute Porphyria enkawl dan tur

Symptoms a nasat (acute attack) a nih chuan damdawi inah dah leh enkawl a ngai thin.

• Saline (IV fluids) pek: Taksa chi leh tui inthlauhna siam.
• Heme Injection: Taksa chhunga heme tlakchhamna control a, porphyrin awm zat tihtlem.
• Glucose pek: Dextrose ang chi sugar hi thisen kal tlanga emaw, ka hmanga pek hian liver chu porphyrin siam chhuah tihtlem nan signal a pe a ni.
• Damdawi dang: Natna nasa tak tan natna tidamtu, leh luak chhuak leh luak chhuak damdawi.
• Damdawi thar zawk Givosiran (Givlaari): Natna lanchhuahna nei fo tan chuan he damdawi hi thla tin pek thin a ni a, a tam leh a nasat loh nan.

Cutaneous Porphyria enkawl dan tur

• Ni laka invenna:Hei hi a pawimawh ber a ni. Kawrfual sei, lukhum, leh invenna sang tak nei, SPF 50+ ang chi sunscreen hman hi a pawimawh hle.
• Phlebotomy: Hei hian kar tlemte danah taksa atanga thisen tlem (unit khat vel) lakchhuah a ni. Hei hian taksaa iron tam lutuk tihtlem nan a pui a, liver-a porphyrins awm khawmte chu a paih chhuak thei bawk.
• Damdawi: Chloroquine emaw hydroxychloroquine emaw ang chi damdawi dose tlem hian thin atanga porphyrins te chu a paih chhuak thuai thei a ni.