Refsum Disease hi i hre tawh em? He dinhmun rare tak hi han sawi ila!

‘Refsum Disease’ tih hi i hre ngai em? He hming hi mi tam tak tan chuan a thar deuh pawh a ni mai thei. A chhan chu a tlem hle a, chu chu genetic disease hmuh tur awm lo tak a nih vang a ni. Mahse hetiang thil hi tlem a fimkhur hi a hlu hle. Vawiin hian Refsum Disease chungchang hi awlsam takin, i hriatthiam theih angin kan sawi dawn a ni.

Refsum Disease hi eng nge ni tak tak?

A awlsam zawngin Refsum natna hi genetic disorder a ni a, taksa peng hrang hrang pahnih a nghawng a ni. Pakhat chu Infantile Refsum Disease a ni a , pakhat chu Adult Refsum Disease a ni bawk . An pahnih hian natna pawl lian tak ``Peroxisomal disorders'' an tih zinga mi an ni a, he thila thil thleng chu kan taksaa genes-a inthlak danglamna thenkhat (hengte hi ``mutations'' kan ti) avang hian thau chi thenkhat chu a chhe tha thei lo a, chu chu ei theih a ni lo tihna a ni. Hetiang dinhmun hi i neih chuan i taksa hian thau chi khat ``Phytanic acid'' tih ti chhe thei enzyme te chu a hloh a, thil thleng chu ``Phytanic acid'' chu taksaah a pung khawm tan a ni. Kan in chhunga bawlhhlawh tlem te, harsatna thlentu ang maiin han ngaihtuah teh.

Puitling Refsum leh nausen Refsum hi eng nge an danglamna?

Refsum natna chi hnih ah hian a hmaa ka sawi tawh ang khan mitdelna leh taksaah `(Phytanic acid)` a pungkhawm tih i hmu thei. Mahse heng dinhmun pahnih hi kan pian hma pawha gene hrang hrang pahnih inthlak danglamna (`(mutations)`) vang a ni.

• Infantile Refsum Disease: Hei hi Zellweger spectrum disorders an tih chi hrang hrang zinga mi a ni. Nausen leh naupang tê têah symptoms a thlen ṭhin. Entirnan, floppy muscle tone , chaw ei \ ha lo , seizures , hmasawnna tlai , leh liver natna . Infantile Refsum hi puitling Refsum aiin a na zawk. Hetiang natna vei naute dam rei zawng hi a inang lo thei a, mahse a tawpah chuan thihna a thlen thei a ni.

• Puitling Refsum Disease: Hei hi naupan lai emaw a hnu lamah emaw a lang tlangpui. A chhan ber chu mit hmuh lohna , rim hriat lohna , taksa peng hrang hranga rilru hah emaw chak lohna emaw , hriatna hloh emaw a thlen thin . Infantile Refsum ang lo takin hei hian thluak a nghawng lo. Chuvangin seizure emaw development delay emaw hi hmuh tur a awm lo. Amaherawhchu, nakin lawkah lung lam harsatna lian tham a awm theihna a awm.

Refsum natna hi engtiang chiahin nge a hluar?

Refsum natna hi a takah chuan a awm lo hle . Infantile Refsum natna hi mi sang za zinga pakhat velin an vei a. Puitling Refsum natna hi a tlem zawk a, maktaduai khatah pakhat velin a vei thin. Chuvangin hei hi a tlem zia chu i ngaihtuah thei ang.

Refsum natna lan chhuah dan engte nge ni?

Refsum natna lan chhuah dan hi kum i hriat tan tirh a zirin a inang lo.

Nausen Refsum a ni

I naute hian Refsum natna a vei chuan a pian tirh lamah floppy hle mai thei, nunna nei lo ang maiin. Nau hnute pek harsatna pawh an nei thei bawk . An natna lan chhuah dan chu natna nasat danah a innghat a ni. Seizures an nei thei a, heng taksa peng hrang hrangah hian thil dik lo an nei thei bawk:

• Kidney (`(Kidney)`) a ni.
• Liver (`(Liver)`) a ni.
• Ruh (a bik takin ruh sei) .

Nausen natna khirh tak nei te chu a chang chuan an dam kum khat chhungin an thi thei a ni.

Naupang kum upa zawkte chuan hetiang hi an tawng thei a:

• Hmasawnna lama harsatna nei te
• Hmasawnna \ha lo
• Mit leh hriatna lama harsatna nei

Puitling Refsum a ni

Puitling Refsum natna lan chhuahna hmasa ber chu zan lama mit hmuh lohna a ni tlangpui . Hei hi `(Retinitis pigmentosa)` tih natna avanga lo awm a ni. I fa chuan he zan lama mit hmuhna hloh hi a tleirawl lai, kum sawm leh pathum emaw kum sawm leh pali emaw vel a nih laiin a hmu thei a ni. A nih loh leh puitling an nih hma chuan symptom engmah an lantir lo thei bawk. An upat deuh deuh chuan he `(Retinitis pigmentosa)` natna hian peripheral vision a tichhe thei a, a tawpah chuan mitdelna famkim a thlen thei a ni .

Puitling Refsum symptom dangte chu:

• Hriak hriatna hloh (`(Anosmia)`) .
• Ke ruh leh ke ruh chhunga rilru hah emaw, kang emaw
• Hriatna hloh
• Balance chungchang a ni
• Ichthyosis (vunah a hring, a hring hring) .
• Mit hmuh theih loh, mitmeng (`(Cataracts)`)
• Lung natna na tak, entirnan, thinlung thawk mumal lo (arrhythmia) emaw, thinlung tha lo (thinlung tha lo) .

Refsum natna hian eng harsatna nge a thlen?

Naute Refsum hi natna khirh tak leh chak lohna thlentu a ni. Naupangte hian ei leh in lamah harsatna nasa tak an nei a, seizure, mit leh hriatna lamah harsatna an nei nasa hle. Thâwk lama harsatna an neih avangin an dam chhung a tawi phah a ni.

Puitling Refsum-ah chuan hun kal zelah i mit a chhe zauh zauh thin. Chak lohna te, hriatna hloh te, balance lama harsatna te pawh a pung zauh zauh bawk. A châng chuan, taksa lama harsatna i neih laiin, natna lian tak i neih emaw, operation i neih hunah emaw , ka sawi tawh `(Phytanic acid)` level chu a sang hle thei a ni. Tichuan thinlung thawk chu a mumal lo thei a, chak lohna nasa tak a awm thei bawk. Enkawl loh chuan heng heart rhythm mumal lo (`(Arrhythmias)`) te hi nunna atana hlauhawm hial a ni thei.

Refsum natna hi eng nge thlen?

Refsum natna hi i pian tirh atanga i neih gene a inthlak (mutation) vang a ni. He mutation hi i nu emaw, i pa emaw, an pahnih emaw hnen atangin i hmu thei a ni.

Nausen Refsum thlen thei gene sawm leh pahnih aia tam a awm. Chung zinga a tam ber chu `(PEX1)` (60%) vel, `(PEX6)` (15%) vel, `(PEX12)` (7.6% vel) leh `(PEX26)` (4.2% vel) te an ni.

Puitling Refsum natna hi pian tirh atanga lo awm leh thlah kal zel atanga lo awm thin, genetic mutation avanga lo awm a ni bawk. Puitling Refsum natna vei mi sawm zinga 9 vel chuan `(PHYH)` gene-ah mutation an nei a. Midang tam zawk chuan gene `(PEX7)` ah mutation an nei a.

Kan taksaa factory tenau tak, machine pawimawh thenkhat a chhiat ang maiin han ngaihtuah teh. Hetiang harsatna hi chu gene an tih machine te hian hna an thawk tha lo a nih chuan a lo awm thin.

Refsum natna hi engtin nge an hriat theih?

Doctor ten Refsum natna an hriat theih nan test hrang hrang an hmang a, i kum a zirin. Refsum natna thlentu genetic mutations zawng turin genetic test an ti thei bawk.

• Nausen tan Refsum: Test hman tlanglawn ber chu long-chain fatty acids (`(very long-chain fatty acids)`), phytanic acid (`(phytanic acid)`), leh pristanic acid (`(pristanic acid)`) te tehna a ni.
• Puitling tan Refsum: I doctor chuan thisen sample a la hmasa thei a, i `(Phytanic acid)` level a test thei bawk.

Refsum natna hi engtin nge enkawl a nih?

Nausen Refsum enkawl dan

I fain nausen Refsum natna a neih chuan doctor chuan naupang natna lan chhuah dan a zirin a enkawl dan tur a rel ang. Hei hian hetiang hi a huam thei a ni:

• Tube hmanga chaw pek
• Cataract tihbo dan (`(Cataract tihbo)`) .
• Tarmit
• Hriatna hmanrua (`(Hearing aids)`) .
• Vitamin a awm lo
• Anti-seizure damdawi te
• Hmasawnna tlai lutuk te tan therapies hrang hrang leh early intervention service (`(therapies/early intervention services)`)

Puitling Refsum enkawl dan tur

Puitling Refsum natna enkawl hian i taksaa phytanic acid level tisang thei ei tur i tihtlem a ngai mai thei. Entir nan:

• Bawngsa leh beram sa
• Dairy atanga siam thil chi hrang hrang
• Nga hriak nei, cod, tuna, emaw haddock emaw ang chi.

Mi thenkhat chuan ``Phytanic acid'' pungkhawm control nan ``Plasmapheresis'' tih damdawi an mamawh thei bawk. ``Plasmapheresis'' ah chuan doctor chuan i thisen thenkhat a la a, ``Phytanic acid'' tam lutuk chu a filter chhuak a, chu thisen chu a pe leh che a ni. Hei hi enkawl dan buaithlak deuh ni mah se, mi thenkhat tan chuan a hlawkthlak hle.

Refsum natna hian lung natna enkawl a ngai em?

Refsum natna vei puitlingah chuan rang taka thinlung thawk mumal lo i neih chuan i heart rate control nan enkawlna i mamawh mai thei. Hei hian a huam thei ang:

• Damdawi chi hrang hrang: 1.1.Thisen zam tihziaawmna damdawi `(Beta-blockers)`, `(Calcium channel blockers)`, emaw `(Anticoagulants)` te hi heart rate control nan emaw, stroke hlauhawmna tihziaawm nan emaw pek thin a ni.
• Cardioversion: Lungphung pangngaia awm leh turin controlled electrical shock pek a ni.
• Implantable cardioverter defibrillator (ICD): Hei hi i vun hnuaia dah tur a ni. I heartbeat a monitor a, a regulate bawk.
• Catheter ablation: Hei hi minimally invasive procedure a ni a, heartbeat mumal lo tihtawp nan tumruh taka natna nei heart tissue tihchhiat a ni.

Refsum natna vei chuan eng nge a beisei theih ang?

Naupang infantile Refsum vei te hian an thanlenna a tikhawtlai nasa hle a, damdawi lam panna nasa tak an mamawh a ni. Lungchhiatthlak takin, enkawlna tha ber ni mah se, an natna nasatzia leh a nihna hian heng naupangte dam chhung hi a ti tawi a ni.

Puitling Refsum vei tam tak chuan `(Phytanic acid)` tamna ei tur an tihtlem avangin an natna lan chhuah dan chu hlawhtling takin an enkawl thei a ni. Enkawlna a awm chuan vun vawt leh vun hring ang chi symptoms te chu a bo fo thin. Mahse, hun rei tak chhung mitdel emaw, hriatna lama harsatna emaw neiin i nun a ngai mai thei. Mi thenkhat chuan an rim hriatna hloh tawh chu an nei leh tawh ngai lo mai thei.

Refsum natna vei theihna hi engtin nge kan tihziaawm theih ang?

Refsum natna hi genetic disorder a nih avangin inven dan tur a awm lo.

Refsum natna i vei a nih chuan, emaw, he natna kengtu i nih i rin chuan genetic testing hi i ngaihtuah mai thei. Genetic testing hmangin Refsum natna thlentu gene mutation chu hriat theih a ni. Genetic counselor chuan test result hriatthiamna leh i fate’n genetic condition an rochun theihna chance a hrilhfiah thei che a ni.

Ka doctor hnenah eng nge ka zawh ang?

Refsum natna i vei a nih chuan, emaw, i vei nia i rinhlelh chuan, i doctor hnenah hetiang zawhna hi i zawt thei ang:

• Refsum natna lan chhuah hmasak berte chu engte nge ni?
• Refsum natna hriat theih nan eng test nge hman thin?
• Refsum natna enkawl dan tur chu engte nge ni?
• Refsum natna hi genetic test ka nei tur em ni?
• Ka fa hian Refsum natna a rochun theihna chance engzat nge awm?

Nangmah emaw i fa emaw hian genetic disease hmuh tur awm lo tak an nei tih i hriat chuan hlauhna i neih hi thil pangngai a ni. Mahse, diagnosis neih hi thil awmdan hriatthiamna hmasa ber a ni.

A tawi zawngin (Take-Home Message) .

Refsum Disease hi natna awm lo leh buaithlak tak a ni. Mahse, a natna chu uluk taka hmuhchhuah a, enkawl vat a nih chuan, .Enkawlna hmang hian, a bik takin puitling Refsum natnaah chuan a natna lan chhuah dan control theih a ni a, nun tha tak a hmang thei bawk. Nausen Refsum dinhmun hi harsa zawk mah se, naupang chu an mamawh ang zat enkawlna leh puihna pek a pawimawh hle.

Hemi chungchangah hian zawhna dang i neih chuan, emaw, i chhungte zingah hian heng natna lan chhuah dan hi i rinhlelh a nih chuan, damdawi lam thurawn lak hreh ngai suh. Heng natna hlauhawm tak tak vei te leh an chhungte tanpuitu support group-a tel ve hi a \angkai hle thei bawk. Mi tinte thiltawn chu inang lo mah se, mi dangte nena inbiakna chuan mahni chauha inhriat loh nan a pui thei che a ni.

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