Kan taksaa natna lan chhuah dan thenkhat hi kan ngaihven vak lo a ni lawm ni? Natna tenau emaw, vun natna tenau emaw, hahna pangngai mai emaw angin kan ngai a ni. Mahse, a châng chuan, heng natna lan chhuah dân pangngai anga langte hnuaiah hian damdawi lam dinhmun hmuh tur awm lo leh pawi tak a awm thei a ni. Vawiin hian chutiang genetic disease pakhat, Fabry Disease chungchang kan sawi dawn a ni. Hei hi natna hmuh tur awm lo tak ni mah se, nang leh i chhungte tan hriat chian a pawimawh hle thei a ni.
Fabry Disease hi eng nge ni?
A awlsam zawngin sawi ila, Fabry natna hi genetic disease a ni a, kan taksa cell-a thau chi khat chu a chhe tha thei lo va, kan taksa peng hrang hrangah a lo pungkhawm a ni. He thau hi a lo pun chhoh chuan kan taksa peng pawimawh ber ber, kal, thinlung leh nervous system te a tichhe thei a ni.
He natna danglam bikna chu mi hrang hrangah a lan chhuah dan a inang lo . Mi thenkhat chuan symptoms fiah lo tak tak, hriat theih loh tak tak an neih laiin, thenkhat tan chuan an nun tichhe thei khawpa na a ni thei. Tin, heng symptoms te hi natna tlanglawn dang nen a inang avangin a chang chuan natna hi hriat tlai theih a ni.
A lan chhuah dan tlangpui chu engte nge ni?
Fabry natna vei chuan a rualin symptom engemaw zat a nei thei a. Chung zinga a bulpui leh hman tlanglawn berte han thlir ila.
| Symptom a ni | Hei hi engtin nge a ngaih? |
|---|---|
| Kut leh kea natna | Kut kang, rilru hah, pin leh needle , emaw kutphah leh kephah natna na tak. A châng chuan he natna hi tuar theih loh a ni thei. |
| Vun rawng a awm | A hnungzang leh khup inkar hmunah hian hmun te te, sen dum emaw, sen hring emaw inzawmkhawm angin a lang fo thin. Hengte hi a tlangpuiin a na lo. |
| Thawmhnaw a tlahniam | A tlangpui aia thawk tlem, emaw, mi thenkhatah chuan thawk hah lo tak tak te, khaw lum emaw exercise emaw tuar harsa tak a ni. |
| Khawsik fo thin | Chhan bik nei lovin khawsik nei fo thin. |
| Ke a hring chhuak | A hring, a bik takin ke hnuai lam, ke ruh leh ke ruhteah a hring. Hei hian kal (kidney) a nghawng tih chhinchhiahna a ni thei. |
| Chauhna nasa tak a awm | Nilengin hah lutuk leh chak lohna nasa tak neia inhriatna, mut ṭhat emaw, chawlh hahdam emaw hnuah pawh a bo ngai lo. |
| Digestive system lama harsatna awm thei | A lan chhuah dan chu chaw ei zawh veleh pum na, chaw ei kham, chaw ei tam, luak chhuak, leh luak chhuak te hi a ni. |
Hmeichhia leh mipa a nghawng danah danglamna a awm em?
Ni e, a dik tak zet. He natna hi genetic nature a nih avangin mipa hian an vei tam zawk . Tin, mipaah hian a natna lan chhuah dan a langsar zawk a, a na zawk bawk.
Hmeichhiain Fabry natna vei pawh nise, mi tam tak chuan a natna lanchhuahna an nei lo emaw, natna lanchhuahna na lo tak tak emaw an nei thei bawk. Amaherawhchu, hmeichhiate hi natnain a tuar lo tihna erawh a ni lo. Hmeichhe thenkhat chuan symptom na tak tak an nei thei bawk a, a bik takin nerve pain an nei thei bawk. Chuvangin a natna lan chhuah dan hi a nasat avangin ngaihthah mai mai a tha lo.
Hei hian engtin nge taksa peng hrang hrangte a nghawng?
Fabry natna a thau khawlkhawm hian taksa peng hrang hrang a tichhe thin. Engtin nge tih i en ang u.
Kidney a ni
He natna avanga harsatna lian tham leh hlauhawm tak pakhat chu kal (kidney failure) hi a ni. Thisen kalna kawnga thau awm hian kal (kidney) supply tu thisen kalna kawngte a ti tawi a, kal (kidney) a tichhia a ni. A lan chhuah dan chu zun chhunga protein emaw thisen emaw a awm thei a, ke ruh a hring bawk. A nasat chuan dam chhung dialysis emaw, kal thlak emaw a ngai thei.
Nervous system a ni
Mi tam tak chuan Fabry natna hi nerve natna nen an tawng hmasa thin. A lan chhuahna ber chu kang, kang, leh tuar theih loh khawpa na, a bik takin kut leh keah te a ni. Heng natna hrehawm tak takte hi darkar tam tak emaw, ni tam tak emaw pawh a awm thei. He natna hi taksa na, khawsik leh hahna nasa tak nen pawh a inzawm thei bawk.
Thinlung
Lung natna pawh a tam hle. Heartbeat mumal lo, heart muscle thickening, heart valve-a harsatna (mitral insufficiency ang chi) a thlen thei. Heng dinhmunte hian stroke ang chi harsatna lian tak tak a thlen theihna a tipung thei bawk.
Vun
A lan chhuah dan ber chu a hmaa kan sawi tawh ang khan dark red spots (angiokeratomas) te hi a ni. Mipa naupangah chuan hengte hi kut, khup, elbow, leh hip leh khup inkar hmunah te hmuh tur a tam ber. Hmeichhia hian heng spot te hi an nei tlem zawk.
Mit
Hei hi symptom bik tak a ni. Mit hmaiah hian mit (cornea) bulah hian streak dum, haze ang chi emaw, ring ang chi (corneal whorls) emaw a lo lang thei. Hengte hian mit hmuhna tibuaitu ni lo mah se, doctor tan Fabry natna hriat theihna tur clues pawimawh tak an ni.
Hetiang mit inthlak danglamna hi natna dang ah hian hmuh tur a awm lo hle a, chuvangin he feature hi neih hian Fabry natna hriatchhuahna kawngah a pui hle.
Beng
Mi thenkhat chuan beng a ri, a nih loh leh ``Tinnitus'' an nei thei. Hriatna hloh pawh hi hun kal zelah zawi zawiin emaw, rang takin emaw a awm thei bawk.
Lung leh chaw ei dan (digestive system) te
Thâwk lakah ‘whooshing’ thawm, thawk hah, khuh fo ang chite chu thawk lama chhinchhiahna a awm thei. Tin, hmeichhia zinga a chanve vel chuan Irritable Bowel Syndrome (IBS) (ril na, pum na) ang chi symptoms an nei bawk.
Natna chi hnih a awm em? (Type 1 leh Type 2) .
Awle. Fabry natna hi chi hnih ah then a ni ber.
1. Classic type (Type 1): Hei hi naupan lai atanga tan a ni tlangpui. Naupan laia taksa peng hrang hranga inflammation leh natna hi a lan chhuah hmasak ber zinga mi a ni thei.
2. Late-onset type (Type 2): Hetiang chi-ah hian naupan lai leh tleirawl lai hi thil pangngai a ni. Kum 20 emaw a hnuai lam emaw hnuah natna lanchhuahna a lo lang tan thin.
Eng chi pawh ni se, kum upat deuh deuh hian natna hi a zual zel thin. Hei hi a chhan ber chu hun kal zelah taksa thau awm zat a pun zel vang a ni.
Hei hi natna hmuh tur awm lo tak niin i ngai mai thei a, i chungah a thlen a rinawm loh hle. Mahse, nangmah emaw, i chhûngkaw zînga mi tu emaw hian he thuziaka kan sawi lan chi hrang hrangte hi hun rei tak aṭanga i lo tawn tawh a nih chuan, khawngaihin ngaihthah suh ang che. A tha ber chu a rang thei ang bera Doctor hmuh a, sawipui hi a ni.Test tul tak tak a nei ang a, heng symptoms te hi eng nge ni tih chiang takin a zawng chhuak ang.
Take-Home Thuchah a ni
- Fabry Disease hi genetic disease hmuh tur awm lo tak a ni a, taksa peng hrang hrangah thau a awm khawm thin.
- A lan chhuah dan ber chu kut leh ke a na, a bengchheng, vunah a sen dum, thawk hah a tlahniam, leh hah lutuk te hi a ni.
- He natna hian taksa peng lian tak tak, kal, thinlung, leh nervous system te chu nasa takin a tichhe thei a ni.
- Mipaah hian symptoms hi a tam zawk a, a na zawk bawk a, hmeichhia erawh chuan symptoms na lo emaw, symptoms nei lo emaw an nei thei thung.
- Nangmah emaw, i chhungte zinga mi tu emaw hian he thuziak-a tarlan symptom pakhat emaw a aia tam emaw i neih a, rei tak a awm reng chuan i doctor rawn nghal vat la, thurawn la rawh.
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