I kut leh keah hian tuar theih loh khawpa natna leh inflammation i nei thin em, chubakah i taksaah hmun sen te te i nei thin em? Inzawmna nei lo anga lang symptom i neih nghal chuan harsatna lian tak a ni thei. Vawiin hian kan sawi dawn a, hetiang symptoms nei thei dinhmun hi kan sawi a, mahse kan ramah hian mi tam takin an la hre lo. Chu chu Fabry Disease a ni.
A awlsam zawngin Fabry Disease hi eng nge ni?
Fabry natna hi kan genes atanga kan rochun genetic condition a ni. A tlem hle. He natna vei hian an taksa cell-ah thau (fatty substance) a lo awm khawm thin. Bawlhhlawh khawntu chu ni engemaw zat kan inah lo kal lo se eng nge thleng ang tih han ngaihtuah teh? Bawlhhlawh chu kan inah a pung khawm a ni lawm ni? Chutiang chu a ni. He natnaah hian kan cell atanga he thau thau hi a tichhia a, a paih chhuaktu enzyme hi taksaah a siam chhuak lo a, a thawk tha lo bawk.
Chutianga thau a punkhawm chuan kan thisen kalna kawngte chu a zim tan thin. Hei hian vun, kal, thinlung, thluak, leh nervous system a tichhe thei a ni . Doctor-te chuan hei hi "storage disorder" an ti bawk. Heng symptoms te hi naupan lai atanga tan a ni tlangpui. Tin, hmeichhia aiin mipaah a tam zawk bawk.
Lungngai suh. Hei hi damdawi awm lo mah se, tunlai hian i natna lan chhuah dan tur enkawl thei tur leh nun pangngaia nunpui thei tur enkawlna tha tak tak a awm a ni.
Fabry natna hi eng nge ni?
Hei hi genetic disease a ni vek a. Chu chu i nu emaw, i pa emaw hnen atanga i rochun thil a ni tihna a ni. Kan taksaa oil, wax, leh fatty acids ang chi thil te ti chhe thei tur enzyme alpha-galactosidase A kan mamawh a ni. Fabry natna vei chuan he enzyme hi a nei lo a, an neih chuan a thawk tha lo. Chuvangin, ka sawi tawh ang khan he thau chi hi cell chhungah a lo pung tan ta a ni.
He natna lan chhuah dan engte nge ni?
Fabry natna lan chhuah dan hi mi hrang hrangah a inang lo thei. Mi thenkhat chu heng symptoms te hian an tuar nasa hle a, thenkhat erawh chu chutiang chuan an tuar lo. Simptom langsar tak tak hmuh theih te hi han thlir ila.
| Symptom a ni | Hrilhfiahna |
|---|---|
| Ke leh ke ruh natna leh inflammation | He natna hi exercise lai te, khawsik i neih lai te, khaw lum lutuk lai te, i chau lai te hian a zual thin. |
| Vun rawng a awm | A hnute leh khup inkar hmunah hian hmun te tak te, dum dum emaw sen hring emaw a awm thin. |
| Mit lama harsatna nei | Mit hmuh lohna emaw mitdel emaw ang chi dinhmun. |
| Hriatna lama harsatna nei | Hriatna hloh emaw, beng chhunga "ring" reng reng emaw. |
| Thawmhnaw a tlahniam | Mi pangngai aia thawmhnaw a tlem chuan a thawmhnaw a chhuak thin. |
| Digestive system lama harsatna awm thei | Pum na leh chaw ei zawh veleh ek chhuah nghal a tulna. |
Harsatna na tak tak a awm
Fabry natna hian hun kal zelah harsatna lian zawk a thlen thei a ni. He risk hi mipaah a sang hle. Mahse, he natna thlentu (carrier) gene kengtu hmeichhiate pawhin symptoms an nei thei a ni. Chuvang chuan hmeichhiate tan he natna hi kan hriat chian a pawimawh hle a, damdawi lam thurawn lak fo a pawimawh hle.
- Heart attack emaw stroke emaw vei theihna a sang .
- Kidney chhiatna nasa tak leh kidney failure.
- Thisen sang a sang.
- Heart failure leh heart enlargement a awm thin.
- Ruh a hring (Osteoporosis) a ni.
He natna hi engtin nge dik taka kan hriat theih ang?
Dik tak chuan Fabry natna hriatchhuah nan hian a chang chuan hun rei tak a ngai thei. A chhan chu a natna lan chhuah dan hi natna dang tam tak nen a inang em em vang a ni. Chuvang chuan mi thenkhat chuan Fabry natna an vei tih an hre lo a, a natna lan chhuah tirh atanga kum tam tak hnuah chauh a ni. Chutih lai chuan doctor hrang hrangah symptom hrang hrang an hmu thei a, a chang chuan diagnosis dik lo pawh an dawng thei bawk.
I chhungkuaa mi tu emaw chuan heng natna hi a nei tawh a, hlauhawma i inhriat chuan i doctor nen genetic testing chungchang sawipui a tha ang .
Doctor hmu tura i kal hunah a enfiah ang che a, hetiang zawhna te hi a zawt ang che:
- Engtin nge i awm?
- I symptoms te chu engte nge ni?
- Chûngte chu engtikah nge an lo inṭan?
- I chhungkuaah hian hetiang dinhmun hi tu emaw hian an nei em?
He thu a\ang hian doctor chuan hei hi Fabry natna a ni thei tih a rinhlelh chuan thisen test (ka sawi tawh alpha-galactosidase A enzyme level enfiah nan) emaw DNA test emaw neihpui turin a ti ang che
Engtin nge enkawl a nih?
Fabry natna hi enkawlna chi hnih a awm a.
1. Enzyme Replacement Therapy (ERT): Hei hi hmanraw hman tlanglawn ber a ni. Hei hian taksaah enzyme awm lo emaw, a thawk tha lo emaw chu saline solution hmanga pek a huam a ni. Hei hi damdawi in emaw clinic emaw-ah kar hnih danah vawi khat vel tih thin a ni tlangpui. He enkawlna hian taksaa thau awmkhawm chu a titawp a, natna leh symptom dangte a control bawk.
2. Migalastat (Galafold): Hei hi damdawi thar, pill anga ei theih a ni. Enzyme malfunctioning chu stabilize-in a hnathawh thatna hmangin hna a thawk a ni.
Heng enkawlna lian ber berte bakah hian i doctor chuan i natna lan chhuah dan azirin enkawlna dang a rawt thei bawk.
- Nerve chhiat avanga natna tihdamna damdawi.
- Pum lama harsatna nei tan damdawi.
- Thisen zam tur venna atana thisen tithianghlimtu.
- Thisen sang leh kal venna damdawi.
Natna hian kal a tichhe nasa hle a nih chuan dialysis emaw, kal thlak emaw pawh a ngai mai thei.
I dinhmun enfiahtu test te
Enkawl lai hian i doctor chuan i dinhmun enfiah turin test hrang hrang a ti fo ang.
| Fiahna | Hrilhfiahna awlsam tak |
|---|---|
| EKG (Electrocardiogram) hmanga tih a ni. | Thinlung electrical activity tehna, heart rate leh rhythm enfiah. |
| Echocardiogram hmanga tih a ni | Thinlung ultrasound hmanga enfiah a ni. Hei hian thinlung peng hrang hrang hriselna leh hnathawh dan a teh a ni. |
| Thluak MRI hmanga siam a ni | Thluak leh taksa peng dangte thlalak chipchiar tak tak neih. |
| CT scan a ni | X-ray hmanga taksa chhungril chipchiar taka thlalak lak. |
| Test dang pawh a awm | Thisen, zun, thyroid test, hriatna leh mit test, lung function test te. |
Take-Home Thuchah a ni
- Fabry natna hi thlahtute atanga lo piang, thlahtute atanga lo chhuak a ni. Hri kai theih a ni lo.
- Simptom inzawm lo tam tak chu a awm dun thei a, chu chu ke ruh natna nasa tak, vunah sen hring, leh thawk hahna tlahniam te hi a ni.
- Natna hriat theih nan hun a duh mai thei a, mahse thisen leh DNA test hian natna hi chiang takin a nemnghet thei a ni.
- He natna hi tihdam kim theih ni lo mah se, tunah chuan a natna lan chhuah dan thunun thei, harsatna lian tham lo thleng tur venna tur, mite nun pangngaia nunpui thei tur enkawlna tha tak tak (ERT ang chi) a awm ta.
- I doctor-in a pek che enkawlna leh test te hi skip ngai suh. Doctor thupek zawm reng hi i hmalam hun hriselna atan a pawimawh hle.
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