Natna mak tak mai, i hriatthiam phak loh i nei em? Acute Hepatic Porphyria a ni thei!

Ngaihtuah phak loh khawpa pum na, a chang chuan thinlung rit tak, leh i taksa peng hrang hranga natna nei ang maiin i inhria em? Doctor-te pawhin eng nge a nih tih hriat tumin an buai hle mai thei. Heng symptom mak tak tak, inzawm lo anga lang, vawiin a kan sawi tur zinga pakhat chu Acute Hepatic Porphyria (AHP) hi a ni. Ngaihtuah buai suh, hei hi a buaithlak deuh a, mahse awlsam takin i hrethiam ang u.

Acute hepatic porphyria (AHP) hi eng nge ni tak tak?

A awlsam zawngin sawi ila, AHP hi genetic disease a ni a, a awm lo hle . I liver ah a intan thin . But it also affects your nervous system , i taksa pum puiah symptoms a thlen thin. Ngaihtuah teh, heme tih hi a awm a, chu chu kan thisena hemoglobin-a tel ve a ni. Kan taksa hian he heme siam nan hian enzyme chi hrang hrang a mamawh a. AHP vei chuan he heme siamna atana enzyme mamawh thenkhat a tlachham emaw, a tlachham emaw a ni.

Hetiang thil a lo thlen hian eng nge thleng? Heme siamna atana hman tur chemical thenkhat chu a la awm. Heng a la awmte hi porphyrin precursors kan ti a . Chungte chu an lo punkhawm chuan taksa tan toxic an ni . AHP-ah chuan heng toxins te hi liver-ah an pung hmasa ber thin. Tichuan thisenah an lut a, nerve te nen an inzawm chuan symptoms chu a lo lang tan ta a ni. I hrethiam em?

AHP chi hrang hrang a awm em?

Ni e, AHP hi chi pali a awm a. Heng chi li te hi a hmaa ka sawi tawh enzyme chi hrang hrangah then a ni a, eng enzyme nge tlakchham dan azirin. Type tin hi liver atanga intan a nih avangin "hepatic" an tih part hming chawiin an vuah a, a symptoms a lo lang nghal avangin "acute" an tih part hming an vuah bawk. A chi hman tlanglawn ber atanga a tlem ber thlengin a awm dan tur angin, a chi hrang hrangte chu hetiang hi a ni:

1. Acute Intermittent Porphyria (AIP): Hei hi a tam ber a ni. HMBS gene-a mutation a awm chuan enzyme hydroxymethylbilane synthase (HMBS) (porphobilinogen deaminase (PBGD) tia hriat bawk) a tlakchham phah a ni. Hei hi genetic mutation lo awm thar a ni thei a, a nih loh leh autosomal dominant trait anga inherited a ni thei bawk (i.e., nu leh pa pakhat chauhvin gene rochun mahse natna hi a awm thei).

2. Variegate Porphyria (VP): PPOX gene a mutation a awm chuan enzyme protoporphyrinogen oxidase (PPO emaw PPOX emaw) a tlakchham phah a. Hei hi autosomal dominant emaw autosomal recessive emaw anga inherit theih a ni bawk.

3. Hereditary Coproporphyria (HCP): Gene `CPOX`-a mutation a awm chuan enzyme `coproporphyrinogen oxidase (CPOX) a tlachham a ni.` Hei hi autosomal dominant emaw autosomal recessive emaw anga inherit theih a ni bawk.

4. ALAD- tlakchhamna Porphyria (ALAD-Thiltih lohna Porphyria - ADP):`ALAD` gene-a mutation a awm chuan enzyme `delta-aminolevulinic acid dehydratase (ALAD) a tlakchham phah a ni.` `Autosomal recessive` angin a inherit a (i.e., nu leh pa pahnihin gene hi an rochun chauhvin natna hi a awm thei).

Engtin nge AHP hian min nghawng?

Hei hi thil mak tak a ni, a chhan chu AHP hian mi zawng zawng a nghawng dan inang vek lo. Mi thenkhat chuan a gene mutation an nei a mahse symptom engmah an nei ngai lo . Mi dangte chuan an dam chhunga vawi khat emaw vawi hnih emaw chauh lo lang thin symptoms "attack" an nei thei bawk. Mahse mi thenkhat chuan heng attack te hi an nei fo thin a, thenkhat erawh chuan chronically , an nei chhunzawm zel tihna a ni a, chu chuan an nitin nun a nghawng chhunzawm zel tihna a ni. A châng chuan attack a nasat lutuk a, damdawi in emergency room-ah hruai nghal a ngai mai thei. Nerve na nasa tak i nei thei a, vun a danglam thei a, nervous system nena inzawm symptoms i nei thei bawk.

Tuin nge hetiang hi dawng thei ber?

AHP hian hnam leh vun rawng eng pawh a nghawng thei a ni. Gene mutation nei nu leh pa pakhat emaw, pahnih emaw atanga rochun theih a ni. Mak tak maiin mi tam tak chuan symptoms an nei lo . Symptoms lo awm tur chuan gene mutation chauh hi a tawk lo. `Trigger` dang engemaw zat pawh a awm ngei tur a ni.

Heng triggering factors te hi engte nge ni?

• Hormone inthlak danglamna (a bik takin puitlin lai, naupai lai leh thlasik lai) .
• Damdawi thenkhat
• Zu in hman dan
• Meizial zuk
• Stress nasa tak a awm
• Ei leh in khauh taka control (a bik takin calorie tihtlem) .

Tin, hriat tur pawimawh tak chu natna lanchhuahna nei zinga 80% chu nau neih theih kum tling tawh hmeichhia an ni .

AHP hi engtiang chiahin nge a awm?

Fiah taka sawi a har khawp mai, a chhan chu he natna hi uluk taka hmuhchhuah a nih loh fo vang a ni. Khawvel pumah mi 100,000 zinga 5 velin an nei thei niin an chhut. A hmaa kan sawi tawh chi hrang hrang zingah `Acute Intermittent Porphyria (AIP)` tih hi report tawh zinga 80% chauh hmuh theih chi a ni. `ALAD-Deficiency Porphyria (ADP)` hi a tam lo ber a ni a, khawvel pumah mi 9 chauh an awm. Ngaihtuah teh, AHP nena inzawm gene mutation nei mi 10 zinga pakhat chauhvin symptoms an nei ang.

AHP natna lan chhuah dan chu engte nge ni?

AHP symptoms hi a mak hle mai. Damlo leh doctor-te tan hriatthiam harsa tak a ni thei a, a chhan chu a natna lan chhuah dan chu a lo lang nghal thei a, a na hle a, a inzawm lo ang maiin a lang thei bawk.

Heng feature thenkhat hi hetiang hi a ni:

Nerve natna

He natna hi taksa hmun hrang hrangah a awm thei a:

• Pum natna nasa tak – Hei hi mi tam zawk tan chuan a lan chhuah hmasak ber a ni.
• A rilru a na
• Hnung lam natna
• Kut leh kea natna

Digestive system lama harsatna awm thei

Nerve-te a nghawng avangin chaw ei leh in lama harsatna a awm thei bawk:

• Nausea leh luak chhuak
• Indigestion (indigestion) a awm lo
• Ek khal
• Kawthalo

Central nervous system natna lan chhuah dan

Chungte chu thluak leh rilru nen a inzawm tlat a ni:

• Hlauhthawnna
• Mu thei lo
• Lungngaihna
• Delirium (delirium) a awm
• Hallucinations – thil awm tak tak lo hmuh emaw hriat emaw
• Status epilepticus/seizure (`Seizure`) a ni a, a rilru a hah lutuk a, a rilru a buai em em bawk a.

Peripheral nervous system atanga natna lan chhuah dan

Chungte chu taksa peng dang nerve te nen an inzawm a:

• Muscle chak lohna
• Ke ruh leh ke ruh (limbs) leh tingling
• Chau
• Sensory hloh a ni
• Muscle paralysis a ni
• Respiratory paralysis – Hei hi a hlauhawm hle a, thawk harsatna a thlen thei.

Autonomic nervous system atanga lo chhuak a ni

Chûngte chu a takin thil thleng, kan thunun theih loh thilte an ni:

• Lung na tak tak
• Thisen sang a sang

Vun natna lan chhuah dan (a bik takin `Variegate Porphyria` leh `Hereditary Coproporphyria`-ah te)

Heng chi hnih vei te hian ni chhuahna hmuna an awm hian vun lama harsatna an nei thei a ni :

• Ni êng laka sensitivity nei
• Blistering rash a awm
• Vun rawng danglam (Pigmentation) .
• Scarring a awm

A pawimawh ber chu porphyria i neih hian i zun chu a rawng a danglam thei a ni . Chutiang porphyrin precursors ka sawi tawhte chu i taksaah a lo awm khawm a, i zun atanga a chhuah chuan i zun chu a rawng sen (red-purple) a lo ni thei a ni . "Porphyria" tih thumal hi Greek tawng "porphura" atanga lo chhuak a ni a, a awmzia chu "purple" tihna a ni. Kan thisen sen chhunga porphyrins te hi thisen rawng sen petu an ni.

AHP attack tih hi eng nge ni?

AHP symptoms nei tam tak tan chuan hengte hi a chang chuan "attack" angin a lo thleng thin. Mi thenkhat chuan an tawng tam zawk a, thenkhat chuan an tawng tlem zawk bawk. Mi thenkhat chuan an tawng nasa zawk a, thenkhat erawh chuan an tawng lo. A tlangpuiin heng attack te hi ni engemaw zat a awm a, chutah chuan zawi zawiin a pung a, a tlahniam bawk. Symptom na tak, hlauhawm tak tak i neih chuan damdawi in pan tur a ni. Ka sawi tawh ang khan thawk harsa tak tak, thawk harsatna ang chi thil hi emergency medical attention mamawhna a ni.

AHP attack chhinchhiahna langsar ber chu sawifiah theih loh, pum na tak a ni.. AHP vei zinga 90% aia tam chu he pum na vang hian doctor hnenah an kal thin. Mahse, pum na chhan tam tak a awm avangin, X-ray emaw CT scan emaw pawhin he natna thlentu hi a hriat theih loh avangin (nerve na a nih avangin) hriat chian a harsa hle. He pum na hi rilru hahna, luak chhuak, leh chaw ei kham ang chi thilte nen a inzawm avangin doctor-te chuan chaw ei kawng natna niin an ngai mai thei. Rilru leh hriatna lama harsatna i neih pawhin thluak lam natna niin an ngai thei bawk. Heng natna inzawm lo anga langte hi a inzawm khawm chuan, porphyria a ni thei tih hriat nan a hre chiangtu doctor pan a ngai a ni.

AHP hian eng chronic symptoms nge a thlen theih?

Natna na zawk (enzyme tlakchhamna tlem zawk) nei te hian natna khirh tak tak an nei tlem hle. An dam chhungin attack vawi khat emaw vawi hnih emaw chauh an nei thei. An trigger an hriat chian chuan an pumpelh thei a ni. Mahse, mi thenkhat chuan attack an nei fo a, symptom thenkhat chu a tam em avangin chronic anga ngaih theih a ni. Chutiang chhinchhiahnate chu:

• Na
• Chau lutuk
• Luhai
• Neuropathy ( ke ruh natna, natna, emaw chak lohna emaw) .

AHP hian eng harsatna nge a thlen?

Central nervous system nena inzawm symptoms (anxiety, hallucinations, leh seizures ang chi) hi attack lai chauhvin a awm tlangpui. Mahse, peripheral nervous system nena inzawm symptoms (muscle chak lohna leh paralysis ang chi) te hi a awm fo thei a, attack na tak hnuah pawh permanent damage a awm thei bawk. Heng porphyrin precursors te hi an khawlkhawm hian taksa peng thenkhat chu hun rei tak chhung a tichhe thei bawk. Chûng zîngah chuan:

• Chronic hypertension a awm thei
• Thin natna rei tak
• Kidney natna rei tak awm thei
• Primary thin cancer a ni
• Depression leh lungkhamna

Eng thilin nge AHP hi a thlen?

AHP thlentu ber chu genetic mutations a ni . Mahse ka sawi tawh ang khan genetic mutation a awm hnuah symptoms a lang nghal lo. A tam zawkah chuan natna lan chhuah dan hi puitlin laiin a lang hmasa ber a, chubakah hormone inthlak danglamna a awm bawk. Chu bâkah, damdawi ṭhenkhat, ruihhlo, zu in tam lutuk, calorie restriction nasa tak, leh taksa tana lungkhamna nasa tak thlentu natnate pawhin a tichhuak thei bawk.

Heng trigger zawng zawng hian an inang tlangpui chu liver-a heme siam chhuah dan a tichak a ni. Mahse, AHP vei mi pakhat liver-ah chuan heme siam chhuah atanga byproduct (porphyrin precursors ang chi) te hi a metabolized tha lo a, chu chu hman ral vek tihna a ni. Chuvangin heng porphyrin precursor la awmte hi liver-ah an pung khawm thin. Chungte chu level engemaw chen an punkhawm chuan nervous system a nghawng tan a, symptoms a siam tan thin.

Engtin nge AHP hi hmuhchhuah a nih? (Diagnosis) tih a ni.

AHP vei tan chuanDiagnosis dik tak neih chu thil harsa tak a ni thei a, a symptoms hi he natna chauh hi a ni lo va, a inzawm lo niin a lang thei bawk. Mahse, AHP hrechiangtu doctor chuan central leh peripheral nervous system symptoms te nen pum na i neih chuan AHP hi a ringhlel thei a ni. Heng symptom pathumte hi a inzawmkhawm hi AHP "classic triad" anga ngaih a ni.

Doctor-in AHP a rinhlelh chuan test eng emaw zat an nei thei a, chu chu a finfiah thei a ni.

• Urine test: Hei hi attack laiin rang taka tih theih a ni. Attack i neih loh laiin zun hi a pangngai thei a, mahse attack lai hian zun hian porphyrin precursors (PBG leh ALA) level sang tak a lantir ang. Hei hi AHP tan chauh tih test a ni lo a, mahse doctor-te’n kawng dik an kawhhmuh thei tur test bulpui a ni.
• Genetic testing: Hei hi AHP (the `gold standard`) hriat theihna kawng tha ber leh chiang ber a ni. Symptom i nei emaw nei lo emaw pawh nise, AHP nena inzawm gene mutation i neih leh neih loh a nemnghet thei a ni. Eng ang AHP nge i neih tih leh enzyme tlakchhamna nasat zia a hrilh thei bawk. Hei hian thisen emaw, hmui emaw sample lak a huam a ni. I awmna hmuna damdawi inah pawh sample chu specialized lab-ah thawn a ngai mai thei bawk.

AHP hi engtin nge enkawl a nih?

AHP enkawlnaah hian attack ven leh control hi a pawimawh ber a ni . Attack a awm laiin damdawi inah dah a ngai mai thei. I natna lan chhuah dan tihziaawm nan damdawi chi hrang hrang i mamawh mai thei. Attack i neih loh hun chhung hian i symptoms ti na zualtu triggers control nan damdawi dang i mamawh mai thei. Nang leh i doctor te hian in nghawng nasa bertu trigger te chu in hriatchhuah chuan in enkawlna chu a hlawk zawk ang.

Attack na tak enkawl dan: 1.1.

• Hemin injection: Attack na tak a awm chuan doctor chuan vein chhungah hemin injection a pe thei che a ni. Hei hian i thisena porphyrin awm zat a tihtlem phah a ni. Hemin hi thisen sen atanga lak chhuah a ni a, i taksaa porphyrin awm zat a ti tlem a ni.
• Natna tihziaawmna: Attack na tak a nih chuan opioid ang chi natna tidamtu chak tak a ngai thei.
• Phenothiazines: Hengte hi nausen leh luak chhuak na tak control nan an hmang thin.
• IV fluids leh nutrition: A natna lan chhuah dan, pum na, luak chhuak, luak chhuak, luak chhuak, leh chaw ei kham te hian attack laiin taksain calorie leh tui a hloh thei a ni. AHP hian sodium leh magnesium ang chi thil a hloh thei bawk. Chuvangin, carbohydrate leh electrolyte awmna tui chu thisenah pek theih a ni.
• Seizure damdawi: 1.1.Damlo 20% vel chuan attack an neih laiin epilepsy enkawl an ngai mai thei.

Hun rei tak chhunga enkawl dan tur:

• Prophylactic hemin: Attack nei fo te hnenah kar khatah vawi khat hemin dose tlem pek hian porphyrins a khawlkhawm loh nan a veng thei a ni.
• Givosiran (GIVLAARI®): Hei hi gene therapy chi khat a ni a . Porphyrin precursors siam chhuah a ti tlem a ni. Tunah chuan AHP symptoms vei fo thinte venna atan thla tin injection atan pawm a ni tawh.
• Hormone therapy: I AHP attack hi i thlasik lai atanga lo chhuak a nih chuan i doctor chuan GnRH (Gonadotropin-releasing hormone) analogs ang chi damdawi a pe thei ang. Hengte hian taksain hormone estrogen leh progesterone a siam chhuah a ti tlem a ni.
• Thisen sang damdawi: Chronic high blood pressure a lo awm chuan damdawi bik hmanga control a ngai dawn a ni.
• Liver transplantation: Mite chuan attack tam tak, nunna atana hlauhawm tak, enkawlna dang dawng lote chuan liver transplant hi an ngaihtuah thei a ni. Hei hian natna hi a tidam vek thei hial a ni.

AHP hi ven theih a ni em?

He natna lo thleng tur hi ven theih a ni lo. Mahse, triggers . Attack i la nei ngai lo a nih chuan trigger awm thei zawng zawng pumpelh a tha ber. Attack i neih tawh a, a thlentu trigger i hriat chian chuan, chutiang trigger bikte chauh pumpelh chu a tawk mai thei.

Trigger hmuh tur tam ber thenkhat chu hetiang hi a ni:

Damdawi chi hrang hrang: 1.1.

• Antihistamines (khawsik leh allergy damdawi thenkhat) .
• Sedatives te pawh a awm
• Oral naupai venna hmanrua
• Hormone thlak danglamna damdawi

Material hman dan: 1.1.

• Zuk leh hmuam (`Tobacco`) .
• Marijuana hman a ni
• Zu
• Intihhlimna atana ruihhlo

Rimtawng:

• Infection awm thei te
• Inzai
• Calorie ei tlem (a bik takin carbohydrate ei tlem) (`Calorie tlakchhamna`) .
• Rilru lama harsatna (psychological stress) a awm

AHP vei te hmalam hun eng nge ni? (Prognosis) tih a ni.

Hei hi mi hrang hrangah a inang lo hle. Mi tam tak chuan symptoms an nei ngai lo . Chutiang titu zingah chuan mi tam zawk chuan an dam chhungin attack vawi khat emaw, vawi tlemte emaw chauh an nei thin. Attack hi nunna atana hlauhawm thei mah se, mi tam zâwk chuan damdawi hmanga enkawl vat chuan an dam leh vek a ni . AHP vei zinga 5% vel chuan symptoms an nei fo emaw, a rei lo emaw a ni. Heng mite tan hian invenna damdawi hi a \angkai fo va, liver transplant hi a tawp ber anga ngaih theih a ni.

AHP nena kan awm chhung hian engtin nge ka in enkawl ang?

• Trigger tlangpui chu pumpelh rawh. Zu, meizuk leh ruihhlo hi i pumpelh tur list-ah a chung berah a awm tur a ni. I damdawi ei ṭhenkhat ai chuan a danglamna tur chungchangah i doctor nen pawh inbiakna i nei thei bawk.
• Ei leh in hrisel, inthlau tak ei rawh. Extreme dieting leh low-carb diet plan te hi pumpelh rawh. Medical test emaw surgery emaw hmaa chaw nghei i nih chuan i doctor nen sawiho rawh.
• Medical checkup neih fo thin ang che. Symptoms nei lo mah la, i doctor-in i thin (liver), i kal (kidney) leh i thisen sangte a enfiah fo ang.

Acute hepatic porphyria hi natna awm lo tak a nih avangin mipui zahawmte zingah awareness a tlem hle. Attack a lo awm nghal a, symptom na tak a awm chuan a buaithlak hle a, a hlauhawm hle bawk. Mi ṭhenkhat chuan an chunga thil dik lo awm leh an tih theihte hriat tumin kum tam tak an hmang ṭhin. AHP i vei nia i rinhlelh chuan genetic test hmangin a nemnghet thei a ni. I hriat veleh attack laka invenna leh control theihna turin i tan a pui hle ang.

I hriat tur pawimawh ber berte (Take-Home Message) .

Okay, chuvangin kan sawi tawh atang khan i hriat reng tur thenkhat ka rawn tarlang dawn a ni:

• AHP hi genetic disease hmuh tur awm lo tak a ni a , liver atanga intan a , nervous system a nghawng thin .
• Hei hi heme siamna atana enzyme mamawh tlakchham vang a ni a, hei hian taksaah porphyrin precursors an tih toxic substance a ti khawm thin.
• A lan chhuah dan chu a inang lo thei a, a inzawm lo, pum na nasa tak, nerve na, rilru lama harsatna, vun lama harsatna, leh i zun rawng inthlak danglam thlengin a awm thei.
• Genetic mutation awm mahse, symptoms hi triggers ( hormone, damdawi thenkhat, zu, leh stress ang chi) awm lovin a lang tam lo.
• Diagnosis atan chuan zun test leh genetic test te hi a pawimawh hle.
• A pawimawh ber chu enkawlna hmanga attack control leh ven hi a ni. `Hemin` vaccine, painkiller, leh damdawi bik thenkhat te hman a ni. A nasat ber ah chuan liver transplant pawh hi solution a ni.
• Natna thlentu (triggers) pumpelh te, nun hrisel tak neih te, leh damdawi lam checkup neih fo te hmangin natna hi i nunpui thei a ni .

He thu hi in tan a tangkai ngei ka beisei. Heng symptoms te hi i neih chuan Doctor hmu a, sawipui hlau suh, tih hi hre reng ang che.

` Acute hepatic porphyria, AHP, thin, nervous system, genetic natna, porphyrins, symptoms, enkawl dan