Gaucher Disease chungchang hi i hre tawh em? A ni lo mai thei. Natna rare tak a nih avangin kan ramah hian natna tlanglawn tak a ni lo. Mahse thlah khat atanga thlah khata inkaichhawn thin, thlahtu natna (genetic disease) a nih avangin fimkhur a pawimawh hle. He natna hian symptom hrang hrang a thlen thei a, ruh chak lo atanga hliam tenau tak nei pawhin a sen vek thlengin a awm thei.
A awlsam zawngin Gaucher natna chu eng nge ni?
Awle, hetiang hian han sawi ila. Kan taksaah hian enzyme bik a awm a, chu chuan thau chi hrang hrang a ti chhe thei a, a ti bo bawk. Gaucher natna vei taksaah chuan he enzyme hian hna a thawk tha lo. Tichuan, thil thleng chu chutiang thau chi hrang hrangte chu taksa hmun hrang hrangah a awm a, a bik takin liver, spleen, leh bone marrow-ah te a awm a ni . Chutianga thau a punkhawm chuan hriselna lama harsatna hrang hrang a lo awm tan thin.
Tunah hian he natna hi damdawi a la awm lo a, mahse Gaucher natna i neih chi hrang hrang a zirin a natna lan chhuah dan thunun theihna tur enkawlna tha tak tak a awm a ni.
Gaucher natna hi chi thum a awm a, chungte chu:
1. Type 1: Hei hi a tam ber a ni. Nervous system a nghawng lo. Mi thenkhat tan chuan symptoms hi a na lo hle thei a, mahse thenkhat tan chuan a na zawk thei bawk. A châng chuan symptoms a awm lo thei bawk. Hetiang chi tan hian enkawlna tha tak tak a awm.
2. Type 2 leh Type 3: Heng chi hnih hi type 1 aiin a na zawk a, a chhan chu central nervous system, thluak leh ruhro (spinal cord) a nghawng avangin. Naute type 2 vei te hi kum 2 aia upa an dam lo tlangpui a, Type 3 hian thluak a tichhe bawk a, mahse naupan lai atanga a lan chhuah dan chu a hnu deuh deuh a ni.
Eng thilin nge Gaucher natna hi a thlen?
Hei hi khawsik ang maia mi pakhat atanga mi dang kai theih natna a ni lo. Hei hi thlah khat atanga thlah danga kal zel, genetic condition tling tak a ni. GBA an tih gene a chhiatna avanga lo awm a ni.
Ngaihtuah teh, naupang chuan he GBA gene chhia hi a nu leh pa hnen atanga a rochun chauhvin he natna hi a vei ang. Miin natna hi nei lo mah se, he gene chhia hi an taksaah (carrier ni rawh) neiin an fate hnenah an pe chhuak thei tho a ni.
He natna hi Europe hmar leh khawthlang lama Juda hnam (Ashkenazi Juda) zingah a hluar ber a ni.
He natna lan chhuah dan engte nge ni?
Mi hrang hrangah symptoms a inang lo thei hle. Natna chi hrang hrang a zirin an danglam bawk. Type tin nena inzawm symptoms te hi han thlir ila.
| Natna chi hrang hrang | A lan chhuah dan tlangpui |
|---|---|
| Type 1 a ni |
|
| Type 2 a ni (Naute thla 3-6 inkar tan) | |
| Type 3 a ni (Naupan lai atanga tan) | |
| Cardiovascular Gaucher (Type 3c) a ni a, a chhuahna tur hmun leh a hmanna tur a awm lo. (A chi khat hmuh tur awm lo) . |
Engtin nge natna hi kan hriat theih ang?
Heng symptoms nei doctor pan i kal hian hetiang hian zawhna a zawt thei che a ni:
- Engtikah nge a symptoms i hriat hmasak ber?
- I chhungte hi eng hnam nge ni?
- Chhungkaw thlah hmasa zingah hetiang hriselna lama harsatna nei an awm em?
- I chhungte emaw, i chhungte emaw zingah fa kum 2 hnuai lam thi an awm tawh em?
I doctor chuan Gaucher natna i vei nia a rinhlelh chuan thisen test emaw, saliva test emaw hmangin an nemnghet thei ang . Tin, natna kal zel dan enfiah turin test mumal an neih a ngai dawn bawk a ni.
Hei bakah hian MRI scan hmangin liver emaw spleen emaw a na em tih enfiah theih a ni a, ruh density test pawh ruh density enfiah theih a ni bawk.
Gaucher natna hi eng enkawlna nge ni?
Enkawl dan tur chu natna chi leh a lan chhuah nasat danah a innghat a ni. Symptoms a na lo hle a nih chuan enkawlna engmah a ngai lo mai thei.
Enkawl dan tlangpui
- Enzyme Replacement Therapy (ERT): Hei hi type 1 leh type 3 diabetes vei thenkhat tan chuan enkawlna ber a ni. Hei hian taksaah enzyme tlakchham tak pek a huam a ni. He damdawi hi kar hnih danah vawi khat vel chu thisenah (IV) pek thin a ni. Anemia a tihziaawm bakah ruh a tichak a, spleen leh liver lian zawk a tidam bawk. Mahse, he enkawlna hi thluak tibuaitu nervous system lama harsatna nei tan chuan a hlawk vak lo. `Imiglucerase (Cerezyme)` leh `Velaglucerase alfa (VPRIV)` te hi damdawi chi hrang hrang an ni.
- Substrate Reduction Therapy (SRT): Heng pills te hi Gaucher natna vei taksaa thau awmkhawm siamchhuahna control tu pill te an ni. Eliglustat (Cerdelga) leh Miglustat (Zavesca) te hi chutiang damdawi chu an ni. Anni hi type 1 puitling damlo, ERT enkawlna atana tha lote hnena pek thin a ni.
A pawimawh ber chu type 3 diabetes vanga thluak chhiatna titawp thei tur damdawi a la awm lo a, mahse zirchiangtute chuan an la thawk chhunzawm zel a ni.
Damdawi dangte thlawptu
- Thisen pek hi thisen tlakchhamna (anemia) vang a ni
- Ruh tichaktu leh natna tihziaawmna tur damdawi
- Joint replacement surgery hmanga mobility tihchangtlun a ni
- Surgery hmanga spleen lian zawk paih chhuah
- Pain control damdawi te
- Doctor-in a rawt chuan vitamin D leh calcium ang chi nutrient dang ei
Natna nena nung leh beisei tur
He natna hi mi tin tan a danglam avangin i doctor nen thawhhona tha tak neih a ngai a, i tana tha tur treatment plan i zawng chhuak tur a ni. Enkawlna hian nung zawkin a pui thei che a, i dam chhung pawh a ti rei thei bawk.
Gaucher natna vei naupang chu naupang dang aiin a thang chak lo deuh thei. Tin, puitlin hun an tikhawtlai thei bawk. A lan chhuah dan azirin contact sports ang chi thil tih loh a ngai mai thei. Mi thenkhat chuan natna nasa tak leh hahna nasa tak an neih avangin active taka awm turin theihtawp an chhuah belh a ngai mai thei.
Hetiang dinhmun nena nun hi thil harsa tak a nih avangin chhungte leh thiante hnen atanga tanpuina dil a pawimawh hle a, a tul chuan psychological counseling lak a pawimawh hle bawk.
Take-Home Thuchah a ni
- Gaucher natna hi thlah kal zelah thlah kal zel a ni a, mi pakhat atanga mi dang hnena kai theih natna a ni lo.
- Natna chi leh mimal a zirin symptoms hi a inang lo thei hle. Mi thenkhat tan chuan symptoms hi a na lo hle.
- Natna hriat chian a, a hmaa enkawl tan a pawimawh hle.
- Type 1 leh type 3 feature thenkhat enkawlna hlawhtling tak tak (ERT leh SRT) awm mahse, he natna hi a dam kim thei lo.
- Nangmah emaw, i fa emaw hian he natna hi i vei a nih chuan doctor nena thawhhona tha tak neia enkawl dan tur mumal tak zawm a pawimawh hle.
- Chhungkaw leh support group atanga tanpuina dawn hi rilru chakna tichaktu lian tak a ni.
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