Naupangte rilru lam natna hmuh tur awm lo tak Krabbe Disease hi i hrechiang ang u

Nu emaw, pa emawin an fate a damloh huna an lungngaihna leh lungkhamna chu thuin sawi chhuah a har khawp mai, a ni lawm ni? A bik takin thil awm lo leh buaithlak tak anga lang a nih chuan phurrit chu a nasa zawk. Vawiin hian chutiang dinhmun hmuh tur awm lo mahse pawimawh tak pakhat chu kan sawi dawn a ni. Hei hi Krabbe Disease an ti a. Mi thenkhat chuan Globoid Cell Leukodystrophy an ti bawk. A hming hi sei deuhin lang mahse, a awlsam zawngin i dah ang u.

Krabbe Natna hi eng nge ni?

A awlsam zawngin Krabbe natna hi genetic disorder awm lo tak a ni a, nervous system a nghawng a ni. "kra-bah" tia lam tur a ni.

He natna hi natna chi hrang hrang Leukodystrophies an tih zinga mi a ni. Heng natnaah hian , kan nervous system-a Myelin an tih protective covering chu a bo vek (hei hi Demyelination an ti a). Kan taksaa nerve cell awmte hi electrical wire angin han ngaihtuah teh. Heng wire chhehvelah hian venhimna khuhna a awm a, chu chu wire chungah plastic sheath ang mai a ni. Chu chu Myelin an tih chu a ni. He myelin sheath hian nerve message te chu rang tak leh dik taka kal theihna a siam a ni. Krabbe natnaah chuan he myelin sheath hi a chhe thin.

Tin, he natnaah hian thluaka cell chi danglam tak, globoid cells an tih chu hmuh theih a ni. Hengte hi cell lian tak tak, nucleus pakhat aia tam nei tlangpui an ni.

Myelin sheath a chhiat chuan thluak cell te chu an thi tan ta a ni. Hei hian zawi zawiin harsatna a thlen a, chu chuan nervous system hnathawh a tichhe thin. Entir nan:

• Thil hriatna lama harsatna nei
• Paralysis a awm
• Hriatna hloh emaw, bengchheng emaw

Krabbe natna hi degenerative condition a ni a, hun kal zelah a zual zel a ni. Thil lungchhiatthlak tak chu, thihnaah a tawp fo thin.

He natna hi Danish neurologist Knud Krabbe hming chawia phuah a ni.

Krabbe natna hian tute nge a tuar ber?

Krabbe natna vei zinga 90% vel chuan thla 1 leh thla 7 inkar ah hian natna lanchhuahna an nei tan thin. Hei hi Krabbe natna infantile form an ti a. A châng chuan, thla 18 an tlin hnuah, tleirawl lai emaw, puitling lai emaw pawhin natna hi a inṭan thei a ni. Hei hi Krabbe natna late-onset form an ti a.

A pawimawh ber chu Krabbe natna hi nu leh pa atanga fate hnena genes hmanga rochun a ni.

He natna hi engtiang chiahin nge a hluar?

Krabbe natna hi a tlangpuiin natna hmuh tur awm lo tak a ni. Mahse, khawvel hmun hrang hrangah a lo awm tam dan hi a inang lo hle. Zirchiangtute sawi dan chuan Europe rama nau piang nung 100,000 zinga pakhat vel leh United States-a nau piang nung 250,000 zinga pakhatah he natna hi a awm thei a ni.

Amaherawhchu, Israel rama khawtlang inhlat deuh ṭhenkhatah he natna hi a tam zawk a, mi 1,000-ah mi 6 velin an vei a ni.

Krabbe natna lan chhuah dan chu engte nge ni?

Krabbe natna lan chhuah dan nasat dan chu a lan chhuah tan kum a zirin a innghat a ni. Infantile form of Krabbe disease hi a na zual chak hle a, kum 2 an tlin hmain a thihpui tlangpui. Krabbe natna tlai lam atanga lo chhuak hi a nasat zawk a, dam rei zawng pawh a rei zawk.

Nausen Krabbe natna lan chhuah dan

Nausen laia Krabbe natna lan chhuah dan hi stage lian pathum-ah hriat theih a ni:

Stage 1-naah chuan:

Krabbe natna vei naute chu thla 4 atanga thla 6 an tlin thlengin an thang lian a, an thang tha tlangpui. Chutah chuan symptoms a intan ta a ni. Chung zingah chuan:

• Hahdam lo fo, thinrimna
• Luak chhuak
• Bawnghnute in harsat
• Hlawhtlin lohna
• Infection chhinchhiahna awm lovin khawsik fo thin
• Muscle chak lohna

Krabbe natna vei naute chu khawih, ri leh êng lakah a sensitive lutuk thei. Chutiang stimulus a lo thlen chuan taksa chu a nghet lo (Tonic Spasms) a nei thei. Ngaihtuah teh, naute chu a thawm tê tê pawh a hriat chuan a mangang ang a, a nghet ang.

Stage 2-naah chuan:

Stage hnihnaah chuan hetiang hian symptoms i hmu thei ang:

• Vision a danglam thin
• Optic Atrophy - Hei hian mit nerve chak lo tihna a ni.
• Abnormal Posture - Kawr, ke ruh leh ke ruhte a tight chuan kawr atanga hnunglam hawiin a kekawrte thlengin a inbeng kang thei (Opisthotonic Posturing). Bow ang maia hnunglam hawia inbeng ang a ni.
• Seizure ang chi dinhmun
• Rilru leh taksa lama hmasawnna tlahniam
• Tun hmaa thil zir tawh (e.g., nuihzatthlak, lu chawi sang) tih theih lohna leh.

Stage 3-na chu:

Stage pathumnaah chuan heng symptoms te hi hmuh tur a awm a:

• Mit hmuhna hloh vek (mitdelna) .
• Hriatna hloh vek (bengchheng) .
• Taksa dinhmun pangngai lo - kut leh ke dinglam, kut zungtang hnuai lam hawia, lu leh kawr hnunglam hawia awm (decerebrate posturing)
• Inkalpawhna a tlahniam.

Chûng thu chipchiar tak takte chhiar chuan lungngaihna leh hlauhna a thlen thei che a ni. Mahse heng thilte hi hriat hmasak nan leh i mamawh tanpuina i hmuh theih nan a pawimawh hle.

Late-Onset Krabbe Disease a lan chhuah dan

Late Infantile Krabbe Disease hi thla 13 leh thla 36 inkar atanga tan a ni. A natna lan chhuah dan chu a hnuaia mi ang hian a lang zauh zauh thin:

• Thinrimna (Iritability) a awm
• Vision a danglam thin
• Kal dan pangngai lo
• Seizures a awm thin
• Apneic Episodes te pawh a awm
• Taksa lumna a nghet lo

Hetiang a nih chuan thih kum zat chu kum ruk vel a ni.

Juvenile-Onset Krabbe Disease chhinchhiahna chu:

• Vision a danglam thin
• Tremors a awm
• Kal dan dik lo (gait abnormalities) a awm
• Duh ang anga chetna control theih lohna leh zawi zawiin taksa ruh a nghet lo
• Attention-Deficit/Hyperactivity Disorder (ADHD) a ni a, a rilru a hah lutuk a, a rilru a buai em em bawk a.

Hetiang Krabbe natna hi a nasat dan hi a inang lo hle a, mahse thihna hi a hmuhchhuah atanga kum 10 chhungin a thleng tlangpui.

Late-Onset Krabbe Disease lan chhuah dan :

• Kut leh keah kang natna
• Mood leh nungchang inthlak danglamna
• Kal laiin staggering, balance hloh `(Ataxia)`
• Muscle a nghet lo (Spasticity) .
• Mit hmuh a danglam a, mitdelna a awm bawk
• Convulsion a awm
• Hriatna lama harsatna leh bengchheng

Mi tam tak, puitlin huna Krabbe natna vei te chu rilru leh taksa lamah an chak lo hle.

Eng thilin nge Krabbe natna hi a thlen?

Krabbe natna hi nu leh pa atanga fate hnena gene hmanga kai theih natna a ni. Autosomal recessive pattern-a inherit a ni. Chumi awmzia chu naupang cell tina gene copy pahnih hian mutations an nei vek tur a ni tihna a ni. He natna vei hian an nu leh pa pakhat zelah mutated gene copy khat an nei vek a. Mahse, nu leh pate hian symptom an nei lo tlangpui. Natna phurtu chauh an ni.

Krabbe natna hi gene `GALC` a mutations avanga lo awm a ni. Hei hian taksain enzyme `Galactocerebrosidase` an tih chu a siam chhuak lo a ni. He enzyme hi kan taksain `Galactocerebroside` an tih compound a metabolize theih nan a pawimawh hle. He galactocerebroside hi myelin (nerve vel venhimna khuh)-a thil pawimawh tak a ni.

He enzyme pawimawh tak hi a bo chuan central nervous system zawng zawnga myelin sheath chu a chhe vek (demyelination). Hei hi Krabbe natna neurological symptoms thlentu a ni.

Krabbe natna hi engtin nge an hriat theih?

United States-a state ṭhenkhatah chuan Krabbe natna test hi nau piang thar screening protocol pangngaiah telh a ni. Hei hi thisen test a ni.

Krabbe natna hriat theihna kawng pawimawh dang chu imaging test hmangin a ni. A bik takin MRI (Magnetic Resonance Imaging) scan hmangin naupang thluaka inthlak danglamna, Krabbe natna a awm tih hriat theih a ni. Krabbe natna vei thluaka natna awmte hriatchhuah nan MRI hi a tangkai hle. Heng test te hian naupan lai leh puitling lai pawhin natna hi a hriat theih nan a pui thei bawk.

I fa chu Krabbe natna a vei tih hmuhchhuah a nih chuan an hriatna leh mitdelna zau zawng enfiah rawh.Hearing Assessment leh Eye Examination neih a ngai mai thei. Hei hian i fain eng ang Hearing Aids leh Vision Aids nge a mamawh theih tih hriat theih nan a pui ang.

I fa chu Krabbe natna a vei tih hmuhchhuah a nih chuan i doctor chuan nang leh i kawppui nen fa dang i neih theih dan tur tehna atan genetic counselling leh testing neihpui turin a rawt mai thei. Chhungkaw member dangte pawh chu gene pangngai lo kengtu an nih leh nih loh enfiah turin an rawt thei bawk.

Krabbe natna hi eng enkawl nge ni?

Vanduaithlak takin Krabbe natna hi damdawi nghet tak a la awm lo. Tin, thihnaah a tawp tlangpui bawk.

Mahse, Krabbe natna zual zel tur control thei tur enkawlna pakhat a awm a, chu chu hematopoietic stem cell transplant (HSCT) a ni.

Stem cell transplant hian taksaa cell hrisel lote chu cell hrisel tak takin a thlak a ni. Hematopoietic stem cells hi cell puitling lo, thisen cell chi hrang hrangah a lo thang lian thei a, thisen var, thisen sen, leh platelet te pawh a tel.

HSCT-ah chuan thisen petu hrisel tak atanga thisen stem cells chu Krabbe natna vei naupangah dah a ni. Hei hian naupang chu cell hrisel tak tak leh thluaka GALC enzyme hnathawh tha tak a pe thei a ni. Mahse, HSCT hi natna lan chhuah hmaa pek a nih chuan a hlawk ber.

Zirchiangtute chuan Krabbe natna enkawlna tha zawk zawn tumin hma an la chhunzawm zel a ni. Tunah hian damdawi a la awm loh avangin leh hun kal zelah natna hi a zual zel avangin enkawlna ber chu supportive care a ni. Hei hian a huam thei ang:

• Muscle tension atan muscle relaxant a awm bawk
• Seizures Control nan Anticonvulsant Damdawi hman a ni
• Mobility tihpun nan Physical Therapy hman a ni
• Naupang kum upa zawk leh puitling tan Occupational Therapy pek a ni
• Chaw ei harsatna a awm chuan tube feedings

Krabbe natna hi eng prognosis nge ni?

Krabbe natna vei tur prognosis a tha lo hle. Thihnaah a tawp tlangpui. Mahse, dam rei zawng chu natna lan chhuah tan kum a zirin a inang lo.

Nausen laia Krabbe natna vei naupangte dam rei zawng chu thla 13 vel a ni. Nausen natna tlai tak nei tam zawk chu an natna lan chhuah tirh atanga kum hnih chhungin an thi thin.

Naupan lai leh puitling atanga intan Krabbe natna hi a lo zual zel dan leh a dam chhung hi a inang lo hle.

Krabbe natna avanga thihna hi thau chak lohna emaw, lung chhunga ei tur/tui lut (aspiration) avanga natna hrik awm vang a ni tlangpui.

Krabbe natna hi ven theih a ni em?

Krabbe natna hi rochun natna a nih avangin a veng tur hian engmah tih theih a awm lo.

Mahse, fa neih i tum hmaa Krabbe natna emaw, genetic disorder dang emaw rochun theihna tur i ngaihtuah a nih chuan, healthcare provider hnenah genetic counseling chungchang sawipui rawh.

Krabbe natna vei ka fa hian engtikah nge doctor a hmuh ang?

I fa chuan an healthcare team te chu a hmuh fo a ngai ang a, an natna lan chhuah dan enfiah a ngai ang a, an hmasawnna enfiah a ngai ang a, a tul angin an supportive care plan pawh a siamrem a ngai bawk ang. I fain symptom thar a neih chuan i doctor hnenah hriattir nghal rawh.

Krabbe natna hi a awm lo hle a, inherited neurological disorder a ni. I fain Krabbe natna a vei tih hriat chu thil mak tak leh phurrit tak a ni thei. Mahse, nangmah chauh i ni lo tih hre reng ang che. Hemi chungchangah hian nang leh i chhungte tanpui leh zirtirna tur resources a awm. He natna chungchanga hriatna nei medical team neih hi i fa enkawlna tha ber pekna atan a pawimawh hle.

Thupui tawi (Take-Home Message) 1.1.

Krabbe Disease chungchanga hriat reng tur awlsam tak tak te chu hetiang hi a ni:

• Krabbe natna hi genetic disease hmuh tur awm lo tak a ni a, nervous system a tichhe thin.
• Hei hian nerve cells vel a venhimna khuhna myelin an tih chu a tichhia a ni.
• Natna nasat dan leh dam rei zawng hi a lan chhuah tan kum (nausen, naupang, puitling) a zirin a inang lo. Nausen laiah a na ber.
• Tunah hian damdawi a la awm lo a, mahse symptoms control leh quality of life tihchangtlunna tur supportive treatment a awm. A lan chhuah hmaa HSCT (hematopoietic stem cell transplant) hian natna zual zel chu a thunun thei ṭhin.
• Hei hi genetic disease a nih avangin ven theih a ni lo. Mahse, genetic counseling hian i hlauhawmzia i hriat theih nan a pui thei che a ni.
• I fain heng symptoms te hi a nei a nih chuan doctor lam pan vat a pawimawh hle.

He thu hi in tan a tangkai ngei ka beisei. Hriselna lama harsatna eng pawhah doctor thurawn dik tak lak a tha ber tih hre reng ang che.

` Krabbe natna, Globoid Cell Leukodystrophy, Myelin, Demyelination, Genetic natna, Neurological natna, Naupang natna