I fa hian heng symptoms te hi a nei em? ALD (Adrenoleukodystrophy) chungchang hi i zir dawn nia

ALD (Adrenoleukodystrophy) tih natna hi i hre tawh em? A hming hi a buaithlak deuhin a lang thei. Mahse, a awlsam zawngin i vawng ang u. Genetic condition a ni a, kan nu leh pate hnen atanga kan rochun thil a ni tihna a ni. A bik takin kan nervous system leh adrenal glands te a nghawng a ni. A châng chuan, heng chhinchhiahnate hi naupang tê tête nungchang tihdanglam leh zir harsatnain a zui thei bawk.

ALD (Adrenoleukodystrophy) tih hi eng nge ni? A awlsam zawngin i hrethiam ang u.

Okay, ALD hi eng nge a nih tak tak tih hi han en hmasa ila. ALD hi natna hmuh tur awm lo tak a ni a , genetic disorder group pakhatah a tel a ni . He pawl hi ``Leukodystrophies'' an ti a, A awlsam zawngin, heng natnate hi kan taksa genes, chu chu kan ``DNA''-a inthlak danglamna, a nih loh leh mutation avanga lo awm a ni.Kan ``DNA'' hi kan taksa hnathawh dan tur hrilhfiahna set ang mai a ni.

ALD hi natna zual zel a ni a, zawi zawiin a zual zel tihna a ni . Chuvangin, enkawlna tum ber chu natna zual zel tur tihkhawtlai leh damlote nunphung tha zawk siamsak hi a ni.

ALD vei taksaah eng nge thleng?

ALD vei tan chuan taksain thau chi hrang hrang a ti chhe thei lo a, a bik takin Very-Long-Chain Fatty Acids (VLCFAs) te hi a ti chhe thei lo. Hei hi kan in chhunga bawlhhlawh paih theih loh ang mai a ni. Chuvangin, heng VLCFA te hi thluak, nervous system leh adrenal cortex, adrenal gland pawn lam ber ah te an pung khawm tan ta a ni.

Scientist te chuan heng VLCFA te hi an lo punkhawm hian taksaah eng nge thleng tak tak tih hi an la hre chiang lo hle. Mahse zirchianna chuan inflammation an siam a, kan thluaka nerve cells vel venhimna khuhna, myelin sheath tia koh chu a tichhia tih a tarlang.

Wire vel plastic sheath ang maiin han ngaihtuah teh. A bo tawh chuan wire a thawk tha lo. Chutiang bawkin myelin sheath a chhiat chuan nerve cell te hian thluak atang hian taksa dang zawng zawngah message an thawn thei lo. Hei hian taksa hnathawh tam tak, kal leh ngaihtuahna te a tibuai thei a ni.

ALD hian adrenal glands a tichhe bawk a, chu chuan taksaa hormone thenkhat a tihhniam phah thei a ni. Heng adrenal glands te hi kan kal (kidney) chung lamah a awm a. Mipa leh hmeichhia mizia tichhe thei hormone an siam a, stress laka chhan let thei hormone an siam bawk.

Engtin nge ALD hi rochun a nih?

ALD hi genetic disease a nih avangin nu leh pa pakhat emaw, nu leh pa pahnih emaw atanga rochun theih a ni. X chromosome -a harsatna awm vang a ni a, chu chu X-linked ALD an ti \hin.

ALD hi engtiang chiahin nge a awm?

Hei hi natna hmuh tur awm lo tak a ni.Khawvel pumah he natna hian mi 15,000 zinga pakhat velin a vei a ni. Hmeichhia aiin mipaah ​​a tam zawk.

Eng thilin nge ALD hi a thlen?

ALD thlentu ber chu gene bik pakhata mutation a ni. Kan genes te hi taksa hnathawhna atana pawimawh protein siamna atana instruction set ang mai a ni. Gene a mutate hian protein chi dik lo a siam thei a ni.

ALD-ah chuan buaina chu `(ABCD1)` an tih gene-ah a awm a. He gene hian protein pakhat `(ALDP)` a siam chhuak a. He protein hi a hmaa kan sawi tawh `(VLCFAs)` te ti chhe theitu a ni. Chuvangin, he protein hi a siam that loh avangin taksa tissue-ah `(VLCFAs)` a pung khawm thin.

ALD chi hrang hrangte chu engte nge ni?

ALD hi chi hrang hrang a awm a, chungte chu:

• Naupan laia thluak ALD: Hetiang chi mipa naupangte hian kum 3 leh 10 inkar atang hian nervous system symptoms an nei tan tlangpui a, mak tak maiin heng naupangte hi nausen lai hian an thanglian dan pangngaiin an lo thang lian thin. Tichuan, an theihnate chu zawi zawiin a tlahniam tan ta a ni. An nungchang lama harsatna an lantir fo thin a, chu chu sikul-a ngaihtuahna seng harsa tih ang chi hi a ni. Seizures a awm thei bawk. Heng natna lan chhuah tirh atanga kum tlemte chhungin naupang chu a thi thei a ni.
• Addison’s disease with ALD: Nervous system symptoms te nen hian ALD hian adrenal glands te chu hna a thawk tha tawh lo thei a ni. Hei hi Addison natna an ti a . Hetiang dinhmunah hian i adrenal glands te hian hormone cortisol . A lan chhuah dan chu ei duh lohna leh taksa ruh chak lohna te a ni.
• Adrenomyeloneuropathy (AMN) emaw puitling atanga lo chhuak ALD: Hei hi ALD chi khat na zawk a ni. Kum 21 leh 35 inkar atanga tan a ni tlangpui a, AMN vei te hian adrenal glands leh nervous system pahnih ah harsatna an nei thin. Puitling atanga lo chhuak ALD hi naupan lai ALD angin a na zual lo va, mahse puitlingah chuan thluak hnathawh a ti tlahniam thei bawk. A lan chhuah dan chu ke na leh ke ruh natna te a ni.

Hei bakah hian ALD chi dang, a tlangpui lo zawk engemaw zat a awm bawk:

• Adrenal insufficiency-only ALD: Mi thenkhat chuan Addison natna chauh an vei thei a, nervous system-ah harsatna a awm lo. ALD vei mi sawm zinga pakhat velin he chi hi an nei a ni.
• Puitling cerebral ALD: He natna vei mipa puitling hmun ngaa ṭhena hmun khat vel chuan naupan laia cerebral ALD vei ang chiah hian hriatna lama harsatna an nei a.Hun a kal zel a, an rilru leh thluak hnathawh a chhe nasa hle. Hetiang chi puitling tam tak hi he natna vang hian an thi thin.
• Hmeichhia ALD vei: ALD vei hmeichhia panga zinga pakhat velin kum 40 an tlin chuan symptoms an nei a, kum 60 an tlin chuan 90% chuan symptoms an nei thin. Mahse, a lan chhuah dan erawh a na lo tlangpui. Entirnan, keah chak lohna leh a nghet lo deuh a awm thei.

Engtikah nge ALD symptoms hi a lo lang thin?

ALD symptoms hi kum 3 leh 10 inkar atanga tan a ni tlangpui a, mahse, a chang chuan nakin lawkah a intan thei bawk. Naupan lai atanga lo chhuak ALD hi a na ber a ni.

ALD natna lan chhuah dan tlangpui chu engte nge ni?

ALD chi hrang hrang hian symptom set hrang hrang an nei vek a. Vawi tam tak chu neurological leh hormonal symptom pahnih hmuh tur a awm.

Naupan laia thluak ALD natna lan chhuah dan:

A tir lama symptom hmuh chhuah te:

• Nungchang lama harsatna: Entirnan, Attention Deficit Hyperactivity Disorder (ADHD) leh zirlai lama harsatna nei te.
• Cognitive deficits: Hengte hi thu thar ngaihtuah leh hriatthiam harsatna a ni. Naupangte chuan sikulah "mumang khawvelah bo" an ti mai thei. Lehkhabu chhiar, ziak leh hmun lama harsatna chinfel kawngah harsatna an nei thei.
• Regression: Chumi awmzia chu naupangte hian an hmaa an theihna an hloh tihna a ni.

Natna a zual zel chuan a lan chhuah dan te pawh i hmu thei bawk:

• Mit hmuhna lama harsatna a awm
• Hriatna lama harsatna nei
• Kal harsat
• Ke ruh chak lohna leh nghet lo
• Convulsion leh seizures te a awm
• Dementia natna (dementia) a awm
• Chaw ei harsat
• Luak chhuak

A tawpah chuan naupangte chuan an nervous system hnathawh tam tak an hloh ta a ni. Mit, hriatna leh duhthusamin an che thei lo. Natna a zual zel chuan naupangte chu `vegetative state'-ah an lut ta a ni. Naupangte hi neurological symptoms an neih tan atanga kum hnih atanga kum thum chhungin an thi fo thin.

Addison natna lan chhuah dan:

Adrenal function tlahniam chhinchhiahna:

• Chau
• Rihna tihtlem
• Nausea leh luak chhuak
• Chaw ei leh in lama harsatna a awm
• Chak lo anga inhriatna
• Zing lamah lu na
• Thisen sang hniam (Hypotension) .
• Thisen thlum hniam (Hypoglycemia) .
• Ni ênga awm lovin vun a thim (Hyperpigmented skin) .

Adrenomyeloneuropathy (AMN) natna lan chhuah dan:

Chung zingah chuan:

• Kut hnuai lam ruhte spasticity, chak lohna emaw paralysis emaw .
• Ataxia hi neurological condition a ni a, movement a tichhe thei a ni.
• Numbness leh natna.
• Erectile dysfunction a awm thin.
• Bowel movement control theih lohna (bowel incontinence).
• Zun control harsat.
• Tar hma lutuk avanga sam (baldness).

Engvangin nge ALD hian mipa leh hmeichhia a nghawng dan a inang lo?

ALD hi X-linked genetic disease a ni a, X chromosome-a gene mutated vang a ni tihna a ni.

Hmeichhia hian X chromosome pahnih an nei a. He natna kengtu an ni thei. A tlangpuiin X chromosome pakhat hi "inactive" a ni. Chumi awmzia chu chu chromosome-a gene awmte chu an thawk lo tihna a ni.

A tam zawkah chuan hmeichhiate hian symptom an nei lo a, a chhan chu mutated gene hi "inactive" X chromosome-ah a awm vang a ni. Hmeichhia symptoms nei tak takte chuan puitlin huna lang thin form na lo zawk an nei tlangpui.

Mipa hian X chromosome pakhat chauh an nei a. Ex chromosome extra atanga venhimna a awm loh avangin mutated X chromosome hian mipaah ​​ALD a ti na zual thei a ni.

Engtikah nge ALD hi hmuhchhuah a nih?

Naute thenkhat chu nau piang thar screening neih laiin an pian tirh atangin hmuhchhuah an ni . Heng test te hian natna thenkhat a enfiah thin. Ram thenkhatah chuan nau piang tharte pawh damdawi inah heng screening neih chhung hian ALD test an ni bawk. Mahse a tam zawkah chuan nu leh pa emaw doctor emaw chuan naupang kum hmasa berah symptoms an hmuh hunah chauh an ringhlel thin.

Puitling-onset type nei te chu natna lan chhuah dan avang hian doctor an hmuh hnuah chauh natna hi an vei tih hmuhchhuah a ni.

Tute nge ALD test tur?

Nu leh pa leh doctor-te chuan hengte hi ALD an rinhlelh tur a ni:

• Tlangval ADD emaw ADHD nei pawhin nervous system disorder symptoms a neih chuan.
• Tlangval pakhatin kea kal emaw, che emaw harsatna a neih a, chu harsatna chu zawi zawiin a zual zel a nih chuan.
• Kum eng ang mipa pawhin Addison natna hi a vei thei a, a natna lanchhuahna dang leh harsatna dang nei lo mah se.
• Hmeichhe upa zawkin zawi zawiin taksa ruh chak lohna a neih chuan.

Engtin nge ALD hi hmuhchhuah a nih?

Doctor ten i fa medical history leh chhungkaw medical history an enfiah ang. ALD nia rinhlelh a nih chuan i fa hian test a nei thei a, chungte chu:

• Thisen a `(VLCFA)` awm zat tehna atan thisen test a ni.
• ALD emaw, natna dang emaw nena inzawm genetic change zawng tura genetic test.
• Adrenocorticotropic hormone stimulation test (ACTH stimulation test) hmangin adrenal glands hnathawh dan enfiah rawh.
• MRI scan hmangin ALD hian thluak a nghawng dan an enfiah thin.

Genetic testing-in ALD i vei tih a finfiah chuan i doctor chuan chhungkaw member dangte pawh genetic testing neihpui turin a rawt thei ang.

ALD enkawl dan tur chu engte nge ni?

Tunah hian ALD hi damdawi a la awm lo. Enkawlnaah hian natna zual zel tihkhawtlai leh a lan chhuah dan control hi a pawimawh ber a ni.

Enkawl dan tur chu ALD chi leh a lan chhuah danah a innghat. Chûng zîngah chuan:

• Adrenal hormone enkawlna: ALD vei te hian an adrenal glands enfiah fo a ngai a. Corticosteroid replacement therapy hian adrenal insufficiency a tidam thei a ni.
• Stem cell transplant: Hei chauh hi naupang ALD natna zual zel tur tikhawtlai thei enkawlna awmchhun a ni. Natna hi hriat hmasak a nih chuan he transplant hian natna a titawp thei a ni. MRI scan-ah ALD hian thluak a nghawng tih a hriat a, mahse naupangin neurological exam-ah symptom chiang tak a lantir lo a nih chuan doctor-te chuan stem cell transplant an rawt thei ang.
• Damdawi: Doctor-te chuan natna lan chhuahna, khur emaw, taksa ruh nghet lo emaw a awm theih nan damdawi an pe thei a ni.

Damdawi \anpuitu dangte:

• Taksa lam enkawlna.
• Rilru lam atanga tanpuina.
• Zirna bik.

Research hmanga enkawl dan: 1.1.

• Gene therapy: Hei hian gene chhia chu a thlak danglam thei a, chu chu gene hnathawh dan pangngaiin a thlak thei a ni.
• Lorenzo’s oil: Hei hi oleic acid leh erucic acid inkawp a ni. Thisen a VLCFA level a tihhniam phah niin an sawi. Naupangte hnenah natna lan chhuah hmaa pek a nih chuan natna lan chhuahna a tikhawtlai thei a, a tikhawtlai thei bawk.

ALD vei naupangte hmalam hun chu eng nge ni?

ALD vei tan chuan natna chi hrang hrangah a prognosis a innghat a ni. Naupang cerebral X-ALD vei te tan chuan prognosis hi a tlangpuiin a tha lo hle. Natna hi hriat hmasak a nih a, stem cell transplantation tih a nih loh chuan an thluak hnathawh a chhe hle. A tam zawkah chuan naupangte chu an natna lan chhuah tirh atanga kum tlemte chhungin an thi thin.

Puitling (AMN) vei tan chuan kum sawm tam tak chhung chu natna hi a lo zual zel thei a ni.

ALD hi ven theih a ni em?

Tunah hian ALD laka inven dan tur hriat a la awm lo. I chhungkuaa mi pakhatin ALD a vei chuan i doctor-in a rawt angin genetic test leh counselling zawng rawh.

Ka fa ALD vei hi engtin nge ka enkawl ang?

Early intervention hian enkawlna hlawhtling tak neih theihna hun tha ber a pe a ni. I fate nungchang emaw, hriat theihnaah emaw inthlak danglamna i hmuh chuan i doctor nen inbia nghal ang che. Tin, i fain a hmaa an thiamna a hloh tawh niin a lang a nih chuan he thu hi i doctor hnenah hrilh rawh.

I fa enkawltu team-ah hian:

• Naupang enkawltu doctor.
• Naupang leh puitling neurologist.
• Urologist (Urologist) a ni.
• Endocrinologist a ni.
• Rilru lam doctor.
• Taksa lam enkawltu a ni.
• Genetic counselor a ni bawk.
• A tul angin specialist dangte pawh an tel.

ALD chungchangah hian ka doctor hnenah eng nge ka zawh ang?

I fain ALD a vei tih hmuhchhuah a nih chuan i doctor hnenah a hnuaia mite hi zawt la:

• Ka fa hian stem cell transplant a nei thei ang em?
• Ka fa hian steroid treatment a mamawh em?
• Ka fa hmalam hun chu eng ang nge ni ang?
• Ka fa natna lanchhuahna tihziaawm nan eng nge kan tih belh theih ang?
• Chhungkaw member dangte chu genetic testing an nei tur em ni?
• Ka fain a tel theih tur clinical trial a awm em?

A tawp berah chuan thil hriat reng tur

ALD hi genetic disease a ni a, nervous system leh adrenal glands te a nghawng a ni. Naupan lai atanga a lan chhuah dan hi a intan fo thin. Naupangte hian an hmaa an theihna an hloh emaw, an nungchang inthlak danglamna an lantir emaw a nih chuan damdawi lam thurawn zawng nghal rawh. ALD enkawl tan hma chuan natna zual zel tur a tikhawtlai thei a ni. ALD hi enkawlna hrang hrang a awm a, chung zingah chuan stem cell transplant, damdawi, leh supportive care te pawh a tel. I medical team chuan i fa dinhmun bik leh hmalam hun tur an sawipui ang che. Hlauthawng ngai suh, thu dik tak neih a pawimawh a, doctor thurawn zawm a pawimawh.

` ALD, Adrenoleukodystrophy, Genetic Diseases, Thluak lam natna, Naupang enkawlna, Hormone, VLCFA