He genetic disease hmuh tur awm lo tak hi i hria em? (Hereditary Transthyretin Amyloidosis - hATTR) a ni a, a chhuahna tur hmun leh a hmanna tur a awm lo.

I taksa peng hrang hrangah a chang chuan rilru hahna i nei thin em? I ding chhuak hian pum na emaw, luak emaw i nei em? Chûngte chu thil pangngai angin lang mah se, a châng chuan he thil hnuaia inthup hi mi tam takin an hriat ngai loh natna hmuh tur awm lo, thlah kal zelah a lo awm reng thei a ni. Vawiin hian chutiang natna pakhat, hATTR amyloidosis chungchang kan sawi dawn a ni. Hei hi thupui buaithlak deuh ni mahse, awlsam takin i hrethiam ang u.

hATTR Amyloidosis hi eng nge ni?

A awlsam zawngin sawi ila, hATTR (Hereditary Transthyretin Amyloidosis) hi natna hmuh tur awm lo tak a ni a, thlah khat atanga thlah dangah a kai darh a, hun kal zelah a zual zel a ni. A chhan chu kan genes inthlak danglamna a ni a, chu chu mutation an ti a ni.

Kan taksaa thil awm zawng zawng hi gene-in a thunun vek niin han ngaihtuah teh. Kan thin (liver) ah hian TTR an tih gene a awm a. He gene-ah hian mutation a awm chuan a siam chhuah ‘transthyretin’ an tih protein pawh hian pianphung pangngai lo, dik lo tak a nei bawk.

Heng protein pianzia dik lo te hi an inzawm khawm a, kan taksa nerve leh taksa peng hrang hrangah ‘ amyloid ’ an tih deposit an siam thin. Leilung leh hnim hringin tui pipe a tihkhawtlai ang bawkin, heng amyloid deposit te hian chu taksa pengte chu a tichhe vek a ni.

Hetiang dinhmun hian polyneuropathy a thlen a, chu chu thluak atanga taksa peng dang panna nerve te tihchhiatna a ni. Hei hi natna khirh tak ni mah se, uluk taka enkawl a nih chuan a natna lan chhuah dan chu thunun theih a ni a, nun chhunzawm theih a ni.

hATTR natna lan chhuah dan chu engte nge ni?

hATTR natna hian taksa peng hrang hrang a nghawng avangin a natna lan chhuah dan hi a inang lo hle. A chang chuan heng symptoms te hi natna tlanglawn dang nen a inang a, chuvangin natna hriat chian a harsa thei hle.

Heng symptoms te hi eng nge an nih tih chu a hnuaia table hi en la.

Engtin nge hATTR natna hi hmuhchhuah a nih?

He natna hi a tlem a, a lan chhuah dan pawh natna dang nen a inang em avangin hriatchhuah a harsa deuh thei. Mahse doctor chuan thil tlemte chauh a ngaihtuah a.

• Chhungkaw damdawi lam chanchin : I chhungkuaa mi tu emaw chuan heart attack, heart muscle thickening, emaw neurological disorder dang emaw nei tawh em tih zawt rawh.
• Symptoms chungchanga zawhna: A chunga kan sawi tak symptoms te hi i nei em tih zawh.
• Genetic Testing: Thisen sample emaw vun cell sample emaw chu TTR gene-ah mutation a awm em tih enfiah a ni. Hei hi natna finfiah dan chiang ber a ni.
• Tissue Biopsy : Pum vun hnuai atanga thau tlemte chu needle te tak te hmangin lak a ni a, microscope hmangin amyloid deposit a awm em tih enfiah a ni. Ngaihtuah buai suh, hei hi operation lian tak a ni lo va, rang taka tih theih a ni.
• Test dangte chu:Thisen leh zun test te, nerve function test te, heart function endik nan ECG leh Echo ang chi test te pawh tih theih a ni bawk.

hATTR enkawlna tur hi engte nge ni?

hATTR natna enkawlna kawngah hian tum lian tak pahnih a awm a. Pakhat chu symptoms control nan a ni a, pakhat zawk chu taksaa protein dik lo siam chhuah leh awm zat tihtlem emaw tihtawp emaw a ni.

Symptoms te enkawl dan

• Lung lam harsatna leh taksaa tui awmkhawmna atan damdawi pek thin a ni .
• Damdawi hi chaw ei leh in lama harsatna nei, riltam leh chaw ei kham loh tan pek thin a ni.
• Damdawi hi nerve natna control nan an hmang thin.

Natna thlentu lam hawi enkawlna

Hengte hi natna kal dan tur tidanglam thei enkawlna bulpui berte an ni.

• Gene Silencer Drugs: Heng damdawi te hian liver-a TTR gene awmin protein dik lo a siam chhuah loh nan a titawp a ni. `Inotersen`, `Patisiran`, `Vutrisiran` te hi heng damdawi thenkhat te hi an ni. Chung zinga ṭhenkhat chu kar tin injection angin a awm a, ṭhenkhat erawh chu kar 3 danah thisenah pek ṭhin a ni.
• Gene Stabilizer Drugs: Heng damdawi te hian misfolded TTR protein chu a inzawm khawm a, amyloid deposit a siam loh nan hna a thawk a ni. `Tafamidis` leh `Diflunisal` te hi he class-ah hian ruihhlo an ni.
• Liver Transplant: Protein dik lo chu liver-ah siam a nih avangin liver transplant hian natna darh dan hi nasa takin a thunun thei a ni. Mahse, hei hi surgery lian tak a ni. Tin, natna tan tirh lamah chauh a hlawhtling thin.

I tanpui tu medical team te

He natna hian taksa peng hrang hrang a nghawng avangin specialist tam tak tanpuina i mamawh dawn a ni.