Nu emaw, pa emaw tan chuan an fa chu an mit hmuha a chhe zauh zauh lai en ai chuan hrehawmna lian zawk a awm lo. Naupang tlan kual vel leh inkhelh lai tak chu seizure ang maia natna neiin a khur tan a, a nih loh leh a ngaihtuahna leh zirlai a tlahniam zauh zauh tih a hmu a, i hlauhthawn leh mangang lutuk chu tawngkam hmanga sawi chhuah a harsa hle. Chu chu ngaihtuah phak loh khawpa natna khirh leh hmuh tur awm lo tak, tunlaia kan sawi tur chu a ni. He natna hi Alpers Disease, a nih loh leh `(Alpers Disease)` a ni.
A awlsam zawngin Alpers Disease hi eng nge ni?
Alpers natna hi genetic disease hmuh tur awm lo tak a ni a, mitochondria a nghawng a, chungte chu kan cell te chakna petu power plant te tak te te an ni. Kan taksa chhunga cell tin chhungah hian battery te tak te tam tak awm ang maiin han ngaihtuah teh, chu battery te chu chu cell te hnathawh theihna tura an mamawh chakna petu chu a ni. Alpers natnaah hian thil thleng chu heng battery, mitochondria te hian hna an thawk tha lo a ni.
Hetiang chakna hloh hian kan taksa peng pawimawh pathum a tichhe ber a ni.
1. Thluak: Dementia hi thluak hnathawh that loh vangin a awm thei a, chu chuan hriatrengna a tichhe thei a ni.
2. Liver: Liver hnathawh a reh vek thei a, chu chuan liver a ti chhe thei a ni.
3. Muscles: Thluaka electrical activity pangngai lo vangin seizure a awm thei.
He natna lanchhuahna hi kum eng pawhah a lang thei tlangpui a, thla khat atanga kum 36 thleng a lang thei. Amaherawhchu, naupan laia hmuh tam ber a ni a, a bik takin kum 2 leh 4 inkar a ni a, a chang chuan he natna hi kum naupan lai pawhin a lo lang thei a, chu chu kum 17 leh 24 inkar a ni a, lungchhiatthlak takin hei hi natna khirh tak a ni a, thihnaah a tawp fo bawk.
He natna hi kan pian tirh atanga kan rochun genetic defect avanga lo awm a ni. Chumi awmzia chu naupangin a pian tirh lamah he natna thlentu genes hi an taksaah nei mah se, a natna lan chhuah nan kar tam tak, thla tam tak, kum tam tak pawh a la ngai thei tihna a ni.
Alpert natna hi hming dang engemaw zatin hriat a ni a:
- Alpers-Huttenlocher natna a ni
- Alpers natna (Alpers syndrome) a ni
- Nausen poliodystrophy a lo awm chho zel
He natna hi tuin nge vei? Engtiang chiahin nge a hluar?
Alpers natna thlentu gene chhia rochuntu apiangin he natna hi an nei thei a ni. Mipa leh hmeichhia pawh a nghawng vek a, mipa leh hmeichhia pawh thliar lovin.
Mahse, lungngai suh, hei hi natna hmuh tur awm lo tak a ni. A vaiin mi 100,000 zinga 1 vel a ni . Europe hmar lam hnam chhuak zingah pawh a hluar deuh niin an sawi bawk.
Engvangin nge Alper natna hi a lo awm? A chhan chu eng nge ni?
Hei hi a chhan ber chu kan taksaa `POLG1` an tih gene inthlak danglamna, a nih loh leh mutation vang a ni. Hei hi thlah khat atanga thlah khata kal zel thil a ni.
A awlsam zawngin sawi ila, hetiang hi a ni. Fa siam tur chuan i nu hnen atangin gene i lak a ngai a, i pa hnen atangin gene i lak a ngai bawk. Alpers natna vei tur chuan naupang hian nu leh pa hnen atangin `POLG1` gene chhia chu a rochun a ngai a ni. Nu leh pa pahnih hi gene chhia kengtu ni mah se, symptoms an nei lo mai thei. Mahse naupang chuan an pahnih atanga gene chhia pahnih a rochun chuan naupang chuan Alpers natna a vei dawn a ni.
Kan sawi tawh ang khan he `POLG1` gene-a chhiatna hian kan cell-te energy center mitochondria-a DNA chu a thawk tha lo a ni. Hei vang hian taksa peng hrang hrang chakna mamawh ber, thluak, thin leh thau te hi a nghawng nasa ber a ni.
Zirchiangtu thenkhat chuan environment factor, virus ang chi hian heng genes chhia rochuntu tuemaw a nghawng chuan natna hi a thlen thei bawk niin an ngai.
He natna lan chhuah dan engte nge ni?
Alpert natna lan chhuah dan hi hun kal zelah a inang lo thei hle. Natna lan chhuah hmasak leh natna a zual zel anga lo langteah then theih a ni.
A lan chhuah hmasak ber chu refractory epilepsy a ni a, enkawlna hmanga control harsa tak a ni.
Heng symptoms te hi a hnuaia table atang hian chiang zawkin i hrethiam ang u.
| Symptom chi hrang hrang | Thil hmuh tur awm |
|---|---|
| A lan chhuah dan ber leh a hmasa ber |
|
| Symptom hmasa dangte | |
| Natna a zual zel angin symptoms lo lang thin |
He natna hi Doctor ten engtin nge an hriat chian?
I doctor chuan i fate natna lan chhuah dan chu uluk takin a enfiah tlangpui ang a, a hmaa kan sawi tawh lan chhuahna lian pathum : hriatrengna hloh, thin natna, leh epilepsy -te chu a ngaihven hle ang.
Hei bakah hian test dang eng emaw zat tih a ni a, a natna hmuhchhuah a nih thu finfiah a ni bawk.
| Fiahna | Engtin nge tih leh hriat tur |
|---|---|
| Cerebrospinal fluid thlirletna a ni | Spinal tap ah hian i hnungzang hnuai lam ah needle te tak te tak te dahin i thluak vel tui tlem te te chu lakchhuah a ni. He fluid hi thluaka chemical thenkhatah tlakchhamna a awm em tih enfiah a ni. |
| EEG test `(Electroencephalography)` hmanga enfiah a ni | Luruh hian thir plate te te (electrode) an bun a, chu chu thluak electrical activity tehna atan a ni. EEG test hian Alpers natna vei thluak hnathawh a ti hniam tih a hriat theih. |
| Genetic testing neih a ni | Thisen sample lak a ni a, genes awm dan tur (sequence) enfiah a ni. Hei hian `POLG1` gene-ah hian mutation a awm leh awm loh dik takin a hre thei a ni. |
| MRI scan `(Magnetic Resonance Imaging)` hmanga tih a ni | Thluak MRI scan-ah chuan Alpers natna vei thluaka gray matter a pung tih hmuhchhuah theih a ni. |
Hei hi enkawl dan tur a awm em?
Lungchhiatthlak takin tun thlengin Alpert natna tidam thei tur emaw, natna zual zel tur titawp thei tur emaw damdawi hmuh tur a la awm lo.
Mahse, natna lan chhuah dan enkawltu, lungawi lohna tihziaawmna leh nunphung tihchangtlun thei tur enkawlna chi hrang hrang a awm a, chu chuan a pui thei a ni. I doctor chuan enkawlna hrang hrang a rawt thei ang:
- Epileptic condition control nana damdawi: Anticonvulsant damdawi hi seizure awm zat tihtlem nan pek thin a ni.
- Nutrition leh hydration atan: Chaw ei harsatna i neih chuan i pum chhungah tube (percutaneous endoscopic gastrostomy) dahin ei tur leh tui i pe thei a ni.
- Diet: Protein tlem, chaw ei fo thin te te.
- Physical therapy: Exercise leh enkawlna hrang hrang, taksa ruh tichak lo leh taksa chakna tihchakna.
- Occupational therapy: Nitin hnathawh tur mahni inrintawkna nei tura zirtirna.
- Speech therapy: Thusawi harsatnaah a pui thin.
- Painkiller leh muscle relaxants: Natna tihziaawmna tur leh taksa ruh nghet lo turin damdawi pek thin a ni.
- Thâwk lama ṭanpuina: Thâwk lama harsatna a awm chuan thawk hi `CPAP` emaw `BiPAP®` ang chi machine hmanga puih a ni a, a tul chuan `(tracheostomy).` hmanga puih a ni bawk
Tin, i doctor chuan thla engemaw zat danah thisen test hrang hrang (`Complete blood count - CBC`, `Liver function test`) a ti ang a, damlo dinhmun a enfiah ang a, a \ul angin enkawlna a siam \ha ang.
Naupang damlo i enkawl a nih chuan...
Hei hi zinkawng harsa tak a ni tih kan hria. Natna a lo zual zel chuan nang leh i fa chu puihna dang i mamawh mai thei. He zinkawngah hian specialist leh service hrang hrang an awm nual a.
- Specialist: Gastroenterologist, liver specialist, nutritionist, leh psychiatrist te hnen atangin tanpuina i dil thei a ni.
- Home Nursing Service: Natna khirh tak a awm chuan trained nursing staff te chu i inah lo kal a, i fa enkawl turin koh theih a ni.
- Palliative care teams: Heng team te hian naupang chu natna tawp ber laia a rilru hahdam leh natna nei lo tura a mamawh tanpuina leh rilru chakna pe turin an pui thin.
Nangmah chauh i ni lo tih hre reng ang che. Alpers natna leh mitochondrial natna dang nei naupang nu leh pate tan support group a awm a. Thil tawn i sawi thei a, resources i insem thei a, i mamawh thurawn pawh i dawng thei bawk.
Alpert natna hi a natna lan chhuah tirh atanga kum 4 leh kum 10 inkar vel a lo awm thin a ni.
He gene hi i chhungkuaah a kal tih i hriat a, fa i beisei a nih chuan genetic counselor nena inhmu leh inbiakna neih a pawimawh hle. I mamawh thurawn leh puihna an pe ang che.
Take-Home Thuchah a ni
- Alpers natna hi a tlem hle a, genetic disease na tak a ni a, mitochondria a nghawng a ni.
- Hei hian thluak, thin leh taksa peng hrang hrang a nghawng ber a, a lan chhuah dan ber chu epilepsy, thin (liver failure), leh hriatrengna hloh te hi a ni.
- Natna damdawi awm lo mah se, a natna lan chhuah dan enkawl dan tur leh damlo thlamuanna pe thei tur enkawlna \angkai tak tak a awm nual.
- Hei hi genetic condition a nih avangin a hlauhawmna tihtlem dan tur a awm lo. Chhungkaw history a awm chuan genetic counselling hi a pawimawh hle.
- Hetiang naupang damlo enkawl hi thil harsa tak a nih avangin doctor te, nursing service te, leh support group te hnen atanga tanpuina lak hian a pui ang che.
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