He genetic disease, lung leh liver pahnih tichhe thei hi i hria em? (Alpha-1 Antitrypsin tlakchhamna) .

Hun rei tak atanga lo awm tawh khuh leh thawk harsa i nei bawk em? Hei hi thil pangngaiah i ngai mai thei. Mahse a chang chuan, heng symptoms hnuaiah hian chhan pawimawh tak, kan hriat vak loh a awm thei. Vawiin hian chutiang dinhmun chu kan sawi dawn a ni. Chu chu Alpha-1 Antitrypsin tlakchhamna, a nih loh leh `(Alpha-1 Antitrypsin tlakchhamna)` a ni. Mi thenkhat chuan a tawi zawngin "Alpha-1" an ti bawk.

A awlsam zawngin Alpha-1 chu eng nge ni?

Alpha-1 hi kan nu leh pate hnen atanga kan rochun , inherited genetic disorder a ni. Hemi a thil thleng chu kan taksain kan lung venghimtu protein alpha-one antitrypsin `(AAT)` an tih chu a siam tling thei lo. He `AAT` protein hi kan lung vengtu atan han ngaihtuah teh. He guard hi a bo chuan kan lung hi a chhe thei hle.

Chuvangin, Alpha-1 status nei mi chu lung natna, a bik takin emphysema (lung chhunga boruak bawm tihchhiat), cirrhosis (liver-a hliam), leh panniculitis, vun natna hmuh tur awm lo tak a vei theihna a sang hle. A châng chuan, heng dinhmunte hi nunna atana hlauhawm tak a ni thei bawk.

Hemi avang hian mi thenkhat chuan he natna hi "genetic COPD" an ti bawk.

Engtin nge he dinhmun hi a lo awm? Tu nge hlauhawm ber?

Alpha-1 siam tur chuan kan nu leh pa pahnih atanga gene danglam tak hi kan rochun a ngai a ni. A awlsam zawngin, genes hi kan taksa hnathawh dan tur tichiangtu instruction a ni. Heng thupekte hi a danglamna tlem a awm chuan taksa hnathawh dan a danglam thei a ni.

Alpha-1-ah chuan `SERPINA1` an tih gene-a mutation a awm chuan `AAT` protein siam chhuahnaah harsatna a thlen a. Chumi avang chuan `AAT` protein chu a tam tawk lo emaw, a siam chhuah protein chuan a pianzia a dik lo emaw a ni thei. A pianzia dik lo a neih chuan chu protein chuan thin a chhuahsan thei lo va, thisen kaltlangin lungah a kal thei lo. Tichuan chu protein pianzia dik lo chu liver-ah a tang a, liver a tichhia a ni. Tin, lung chhunga kal tur protein a awm loh avangin lung pawh a hlauhawm hle bawk.

Mahse, mi thenkhat chuan he gene chhia hi nu leh pa pakhat (an nu emaw, an pa emaw) atang chauhvin an rochun thin. "Carrier" kan ti thin. An taksa hian a tlangpuiin an lung venhimna tur `AAT` protein tling tak siam chhuak mahse, lung chhiatna hlauhawm takah an la awm reng a ni. He risk hi a bik takin an zuk chuan a sang hle.

Hei hian engtin nge lung leh thin a nghawng?

Hei hi hrethiam tur chuan entirnan tlem han la ila.

Kan `AAT` protein hi liver-ah siam a ni. Tichuan thisen kal tlangin lungah a kal a. Kan lung hian enzyme pakhat `Neutrophil Elastase` an nei a, chu chuan natna hrik do turin a pui a ni. He enzyme hi sipai rilru na tak, thiam tak angin han ngaihtuah teh. Infection a tichhe vek a ni. Mahse a tih zawh chuan tu emaw chuan a titawp a ngai a ni. Chutiang a nih loh chuan kan lung cell hrisel tak takte pawh a rawn bei tan ta a ni.

Chu "stopping" thil, chu "off switch" function chu kan `AAT` protein hian a ti a ni. Commander chuan sipai hnenah, "Okay, chu chu a tawk tawh, titawp rawh," a tih ang mai a ni.

Tunah chuan Alpha-1 vei miah chuan he `AAT` officer hi taksaah a tlachham ta a ni. Tichuan chu sipai râpthlâk tak (`Neutrophil Elastase`) kha titawptu tur an awm lo. Lung chu a bei chhunzawm zel a ni. Hei hian lung chhunga protein `Elastin` chu a tichhia a ni. He elastin hian lung chhunga air sacs (alveoli) te chu rubber band ang maia an elasticity leh chakna petu a ni. A bo chuan air sacs te chu a chak lo va, deflated balloon ang maiin a tlahniam ta a ni. Hei hi `Emphysema` kan tih chu a ni. Hei hian thawk a ti harsa a, oxygen pawh a hmu thei lo.

Liver chunga thil thleng hi a danglam deuh hlek. Genetic defect thenkhat avang hian `AAT` protein hi a pianzia dik lo takin a lo piang thin. Paper phek pakhat, a fold dik lo ang maiin. Hetiang pianzia dik lo avang hian protein chu liver a chhuahsan thei lo va, liver chhungah a tang ta a ni. Hetianga protein tam lutuk a tlakbuak hian liver a chhia a, a hliam tan thin. Chu chu cirrhosis an ti a .

Alpha-1 natna lan chhuah dan chu engte nge ni?

Alpha-1 natna lan chhuah dan hi taksa chhunga taksa peng hrang hrang a nghawng dan azirin a inang lo. Hengte hi COPD (Chronic Obstructive Pulmonary Disease) chhinchhiahna nen a inang fo thin.

He natna hi engtin nge kan hriat theih ang?

Alpha-1 hmuhchhuah dan ber chu thisen test hi a ni . A natna lan chhuah dan hi natna dang nen a inang a, a chang chuan a dik taka hriat theih nan hun rei tak a la ngai thei. Liver symptoms i neih chuan, emaw COPD i vei tih hmuhchhuah a nih a, enkawl ni mahse i symptoms a tha lo a nih chuan i doctor chuan Alpha-1 test che a rel thei ang.

Test tih tlangpui chu:

• Thisen test: I thisenah protein `AAT` level a awm leh awm loh endik a ni ang. Level a hniam chuan Alpha-1 nena inzawm genetic defect i neih leh neih loh enfiah turin genetic testing neih a ni ang.
• Imaging test: Chest X-ray emaw CT scan emaw hmangin lung chhiatna zau zawng leh awmna hmun hriat theih a ni.
• Pulmonary function tests: Hengte hian Alpha-1 hi direct-in a hmu thei lo nain, i doctor hnenah i lung hnathawh that dan tur ngaihtuahna a pe thei a ni.
• Liver Ultrasound emaw FibroScan®: Liver chhia nia rinhlelh a awm chuan heng scan te hi liver-a hliam awm leh awm loh enfiah nan an ti thin.
• Liver Biopsy: Liver chhiatna a nasat chuan liver atanga tissue te tak te tak tak lak a ni a, a chhiatna zau zawng dik tak hriat theih nan an enfiah thin.

Alpha-1 hi eng enkawlna nge ni?

Alpha-1 syndrome hi damdawi chiang tak awm lo mah se, a natna lan chhuah dan control thei, taksa peng chhiatna tihziaawm thei leh nunphung tichangtlung thei enkawlna tam tak a awm.

Enkawl dan hi taksa peng hrang hrang a nghawng dan azirin a inang lo:

Lung tan enkawlna

• Augmentation Therapy: Hei hi Alpha-1 enkawlna bik a ni. Thisen petu hrisel tak tak atanga lak `AAT` protein tihthianghlim a, saline ang chi vein hmanga taksa hnena pek a ni. Hei hian chhiatna lo thleng tawh chu a tidanglam thei lo nain, a tam zawkah chuan nakin lawka lungte chhiatna chu a titawp thei a, a thunun thei bawk.
• Damdawi: COPD vei te chu thawk awlsam zawk nan inhalers , bronchodilators ang chi damdawi an pe thin.
• Oxygen therapy: Thisen a oxygen level a hniam chuan supplemental oxygen hi hnar chhunga dah tube te tak te emaw, hmui mask hmangin emaw pek thin a ni.
• Pulmonary rehabilitation programme: Thâwk lak dan leh taksa tihchakna dang hmanga thawk awlsam zawk nan training pek a ni.
• Lung transplant: Lung a chhiat nasat chuan a tawp ber atan lung hrisel tak thlak a ngai mai thei.

Liver enkawl dan tur

Liver chhiatna hi symptomatic angin enkawl a ni. Mahse, Alpha-1 liver natna tihdam vek theihna awmchhun chu liver transplant hi a ni . Liver hrisel tak an thlak chuan liver hian `AAT` protein dik tak a siam tan thin.

Alpha-1 hmang hian hrisel taka nun theih nan eng nge ka tih theih ang?

Alpha-1 vei nia hriat ni mah la, i nun tawpna a ni lo. I taksa peng hrang hrangte tihchhiat tlem nan thil tam tak i tih theih a ni.

Chumi piah lamah chuan heng thilte hi hre reng ang che:

• Miin meizukna hmun a\angin hlat rawh. (Secondhand smoke hi pumpelh tur a ni)
• I lung tana pawi thei thil, leivut leh chemical chi hrang hrang thaw lak loh tur. Hnathawhna hmuna hetiang thil i tawk a nih chuan invenna hmai tuamna vuah tur a ni.
• Zu in hi bansan vek emaw, a theih ang anga tihtlem emaw. Zu hian thin (liver) chhiatna a tipung thei a ni.
• Doctor rawn hmasa lovin natna tidamtu (e.g., paracetamol ei tam lutuk) emaw, liver tichhe thei thing dang emaw hman loh tur a ni.
• Vaccine tul zawng zawng lak vek rawh. A bik takin pneumonia, influenza (flu), COVID-19, leh hepatitis A leh B, thin natna laka vaccine lak a pawimawh hle.
• Kut sil fo la, fai takin awm la, natna hrik lakah inveng rawh.
• I chhungkuaa mi pakhatin Alpha-1 a vei a nih chuan nangmah ngeiin test neih a tha. Chumi chungchang chu i doctor nen sawiho rawh.
• Alpha-1 i vei emaw, carrier i nih chuan fa neih i tum a nih chuan genetic counselor nena inbiakna neih a pawimawh hle.

Engtikah nge doctor i hmuh ang?

• Kan sawi tawh ang khan lung emaw liver symptoms i neih chuan.
• I chhungte zinga mi pakhatin Alpha-1 a vei tih hmuhchhuah a nih chuan.
• COPD emaw asthma emaw i vei tih hmuhchhuah leh enkawl i nih a, mahse i natna lan chhuah dan a tha lo a nih chuan Alpha-1 test neihpui turin i doctor nen inbia ang che.
• Alpha-1 i neih tawh chuan symptom thar a lo lang emaw, symptom awmsa a zual emaw chuan doctor pan nghal rawh.

Alpha-1 nena nun hi a harsa thei hle. Mahse, hriatna dik, enkawl dan leh nunphung dik tak i neih chuan nang pawhin nun hrisel leh thawkrim takin i nung thei a ni. Chutianga tih theih dan tha ber chu i doctor nen zalen taka inbiakna neih a, i tana tha tur ruahmanna siam hi a ni.