Tuberous Sclerosis chungchang hi i zir belh ang u. Hlau suh, kan inbia ang u!

A chang chuan kan nunah hian natna ngaihtuah phak loh leh mak deuh deuh kan hre thin a ni lawm ni? Awle, natna pakhat, mi tam takin an hriat loh, mahse hriat a pawimawh em em chu Tuberous Sclerosis Complex (TSC) , a nih loh leh Tuberous Sclerosis mai mai hi a ni. Hemi kawngah hian thil thleng chu cancer ni lo tumor, a nih loh leh tumor te hi i taksa hmun hrang hrangah a lo awm a, a bik takin thluak, vun, kal, thinlung leh lung ang hmunah te a lo awm thin a ni. Hei hi genetic disease a ni. Mahse, lungngai suh, engkim chiang tak leh awlsam takin kan sawi dawn a ni.

Tuberous Sclerosis hi eng nge ni tak tak?

A awlsam zawngin sawi ila, tuberous sclerosis (TSC) hi thlahtute atanga natna hmuh tur awm lo tak a ni. I taksa hmun hrang hrangah cancer ni lo tumor a siam thei a, chu chu i thluak, vun, kal, thinlung, mit leh lungah te a ni. Heng tumor te hi cancer an ni lo tih hriat reng a pawimawh . Chumi awmzia chu taksa peng khat atanga hmun danga darh thei tumor hlauhawm tak tak an ni lo tihna a ni. Mahse, heng tumor te hian hriselna lama harsatna hrang hrang a thlen thei a, chu chu an awmna hmun leh an lian leh te a zirin a ni.

Mi thenkhat chu he natna hian a nghawng nasa lutuk lo. Nun pangngaiin an khawsa thei a ni. Mahse mi thenkhat tan chuan a na zawk thei a, harsatna chi hrang hrang a thlen thei bawk. He natna hi a lo thang zauh zauh a. Symptom thenkhat chu naupan lai atang tawhin a intan thei a, a then erawh chu kum tam tak a la ngai thei. Chuvangin, he natna vei hian dam chhung zawng damdawi lam thurawn leh enkawl a ngai a ni.

He natna hian tute nge a nghawng ber? Engtiang chiahin nge a hluar?

Tuberous sclerosis (TSC) hi nau piang laia awm thin a ni . Naupang zinga a chanve vel chu thla 7 vel an tlin meuh chuan he natna hi an vei tih hmuhchhuah a ni. Mahse, a chang chuan a natna lan chhuah dan chu a langsar lo hle a, kum tam tak chhung chu hriatchhuah a ni lo thei bawk. Naupan lai atanga hriat chhuah ni mah se, puitling an nih chuan symptom thar a lo lang thei a ni.

Hetiang dinhmun hian tu pawh a nghawng thei a, mipa leh hmeichhia, chi leh chi hrang hrang thliar lovin. Chu chu a tuar thei pawl bik a awm lo tihna a ni.

Hei hi a tlem zia hi han ngaihtuah teh. Tuberous sclerosis (TSC) hi a takah chuan natna hmuh tur awm lo tak a ni . America ramah hian he natna vei hi mi 50,000 vel chauh an awm. Khawvel pumah chuan maktaduai khat vel an awm. Chuvangin he dinhmun hi a tlem zia chu i ngaihtuah thei ang.

Tuberous sclerosis (TSC) hian engtin nge taksa a nghawng?

Tuberous sclerosis (TSC) hian a nghawng ber chu taksa chhunga cell te hi an lo thang khawm a, lump te te (tumor) ah an lo chang ta a ni. Hei hi thluak ah a thleng tam ber . Chu bakah, i vunah pawh inthlak danglamna i nei thei a, a bik takin i naupan lai hian. Dik tak chuan heng vun inthlak danglamna hi mi pakhatin natna a vei tih hriattirna hmasa ber a ni fo thin.

Chu mai ni lovin, tuberous sclerosis (TSC) hian i thinlung leh kal a nghawng thei bawk. Heng taksa peng hrang hrangah hian lump chi hrang hrang a lo awm fo thin. Hmun dangah chuan lumps a lo awm lo.

Eng nge a lan chhuah dan? Engtin nge an lan chhuah?

Tuberous sclerosis (TSC) natna lan chhuah dan hi taksa peng emaw taksa peng emaw a nghawng dan azirin a danglam thei hle. Symptoms hi group lian pathum ah then theih a ni:

• Thluak nena inzawm natna lan chhuah dan
• Vun nena inzawm natna lan chhuah dan
• Taksa chhungril lama inthlak danglamna dangte

Tunah chuan hengte hi a hranin han thlir ila.

Thluak nena inzawm natna lan chhuah dan

Brain-related symptoms hi tuberous sclerosis (TSC) avanga thluaka tumor emaw cortical tubers (hamartomas) a lo awm hian a awm thin. Heng tumor te hi cancer ni lo mahse thluak a tichhe thei a, thluak hnathawh a tibuai thei bawk. Entirna thenkhat chu:

• Subependymal giant cell astrocytoma (SEGA) : Hengte hi thluak chunglam a, a bik takin thluak chhunga tuiin a khat cavities te tak te (ventricles) chunglam atanga lo awm tumor an ni. Hengte hian a chang chuan cerebrospinal fluid luang chhuak chu a tikhawlo thei a, thluak chhung leh a chhehvelah tui a awm khawm thei a ni. Hetiang dinhmun hi hydrocephalus an ti a .
• Cortical tubers (hamartomas) : Hengte hi cancer awm lo cell clusters an ni. Heng cell pawl hrang hrangte hi thluak chhungah, an awmna tur hmun hnaih takah, mahse a buaithlak deuhin an lo piang a ni. Hei hi a chhan chu cell tam lutuk a lo piang a, an thanna tur hmun a awm tawk lo a ni.

Vawi tam tak chu tuberous sclerosis (TSC) hian natna dang a thlen thei a, chu chuan a kaihhnawih symptoms a nei bawk:

• Seizures : Hei hi a awm fo thin.
• Hmasawnna tlai leh rilru lama harsatna : Entîr nân, naupangin ṭawngkam, kea kal, etc. a tihkhawtlai thei a, zirna lama harsatna a awm thei bawk.
• Thluak thanlenna nena inzawm dinhmun: Autism spectrum disorder emaw attention-deficit/hyperactivity disorder (ADHD) ang chi dinhmun .

Tuberous sclerosis (TSC)-ah hian seizures leh rilru lam harsatna hi awm fo mahse, he natna vei zawng zawng hian an nei vek dawn lo. Rilru lama harsatna nei lova mahni chauha seizure neih theih a ni bawk.

Vun nena inzawm natna lan chhuah dan

Skin symptoms hi tuberous sclerosis (TSC) chhinchhiahna hmasa ber a ni fo thin. Mithiamte chuan he natna vei zinga 90% chuan a hnuaia mi pakhat emaw a aia tam emaw an tawng thin an ti:

• Ash leaf spots : Hengte hi vunah melanin a ni.Pigmentation hniam (vun rawng pe theitu pigment) awmna hmun. Heng spot te hi hnah dum ang mai a ni. A châng chuan, vun êng neiah hmuh a harsa hle. Heng spot te hi ultraviolet (UV) light chi khat bik hnuaiah an eng chhuak thin .
• Confetti marks : Hengte hi freckles ang mai a ni. Mahse, regular freckles hi a chhehvel vun aiin a dum zawk laiin, heng confetti marks te hi a chhehvel vun aiin a rawng a eng zawk. Hengte hi kum naupan lai pawhin a thleng thei bawk.
• Facial fibromas : Hei hi cancer ni lo, hmai vunah lo awm thin a ni. An lian chhoh chuan, emaw, engemaw zat an inhnaih chuan, "plaques" tia koh formation lian tak angin an lang thei a ni. A chhehvel vun aiin an rawng a dum zawk thei.
• Fingernail leh toenail fibromas : Hei hi facial fibromas nen a inang a, mahse kut zungtang leh ke ruh nail vel emaw hnuaiah emaw a lo awm thin. Puitling laiin an lang tlangpui a, dam chhung zawngin an thang lian thei.
• Shagreen patches : Hei hi vun pawn lam layer (epidermis) hnuaia fibrous tissue awmna hmun a ni. An hnungzang hnuai lam ah an awm tlangpui. Orange emaw grapefruit emaw vun ang deuh an ni.

I vunah heng spot emaw bumps emaw i hmuh mai mai hian tuberous sclerosis i nei tihna a ni hauh lo tih hre reng ang che. Doctor hnen atanga check out neih a pawimawh.

Taksa chhungril lama inthlak danglamna dangte

Tuberous sclerosis (TSC) nena lo awm tumor emaw cyst te hi taksa hmun dang tam takah a awm thei a ni. Inthlâk danglamna dang pawh a awm thei bawk. Chung zinga ṭhenkhat chu:

• Kawng inthlak danglam : Ka chhungah fibromas (tumors) a lo awm a, ha enamel hloh vangin ha pitting a awm bawk. Heng ha enamel inthlak danglamna hi TSC vei zawng zawng deuhthaw ah hmuh tur a awm. Lump avang hian gums a na thei a, thisen a chhuak thei bawk. Enamel pitting hian cavities a thlen thei bawk.
• Kidney cysts : Hengte hi kal chhunga a lo awm chuan kal hnathawh a tibuai thei a ni. A lan chhuah dan chu hnungzang emaw, ke ruh emaw, zun-a thisen, leh kal (kidney)-a lung te a ni thei. A chang chuan kal chak lohna leh kal cancer chi khat, renal cell carcinoma an tih pawh a awm thei bawk.
• Tumors of the retina or optic nerves : Heng tumor te hian mit lamah harsatna a thlen thei a, mahse hei hi a awm lo.
• Heart tumors (cardiac rhabdomyomas) : Hengte hi naute zingah a na ber. Kum upa lam a zirin a hlauhawmna a tlahniam thin. Tumor lian zawk hian thinlung kal tlanga thisen kal dan a tikhawlo thei a, mahse hei pawh hi thil awm lo tak a ni.
• Lung nodules : Hengte hi a nasat chuan thawk harsatna a thlen thei a ni.

Tuberous sclerosis (TSC) hi eng thilin nge a thlen?

Tuberous sclerosis (TSC) hi thlahtute atanga lo chhuak natna a ni . Hei hian kan DNA a inthlak danglamna (mutations) avanga lo awm a ni tihna a ni . Kan taksaa cell tam tak chu an inthen darh a, cell tharin an thlak a ni. Hetiang kalphung hi tumor titawp thei protein te hian an thunun a ni.

Heng protein te hian cell te inthen darh dan leh cell lian tham te chu an control a ni. Hêng protein-te hi a inthlau a nih chuan eng nge thleng ang tih han ngaihtuah teh? Tichuan, cell lian lutuk, tam lutuk te chu an lo thang lian tan ta a ni. Kalna tur an neih loh chuan thunun theih lohvin an thang lian a, tumor an siam thin. Chu chu tuberous sclerosis-ah chuan a thleng thin.

Hei hi thlah kal zel atanga lo chhuak thil a ni em?

Tuberous sclerosis (TSC) thlentu genetic mutations hi chi hnih a awm thei a:

• Sporadic : Hengte hi naupai hnu lawka (chu chu sperm leh egg inzawmkhawm hnua embryo siam hnua random error awm thin a ni). Lehkhabu print chhuah lai typo ang mai a ni. Hengte hi inherited case aiin a tam zawk.
• Inherited : Tuberous sclerosis (TSC) vei hmun thuma ṭhena hmun khat vel chuan nu leh pa hnen aṭangin an rochun a ni.

Engtin nge tuberous sclerosis (TSC) hi hmuhchhuah a nih?

Mithiamte chuan natna chhinchhiahna leh lan chhuah dante chu chi hnih-ah an ṭhen a: major features leh minor features . Tuberous sclerosis (TSC) i vei tih chiang taka hriat theih nan chuan feature lian pahnih emaw a aia tam emaw i neih a ngai a ni. Hun kal zelah symptoms a lo awm thei a, chuvangin doctor chuan i dinhmun hi "possible TSC" tiin a classified thei a, chu chu feature lian tak pakhat emaw, feature tenau pahnih emaw chauh i neih chuan a ni.

Thil langsar tak tak

• Ash leaf spot pathum tal (spot tin chu mm 5 tal a zau tur a ni).
• Facial fibromas pahnih emaw, hmai/lu-a fibroma plaque pakhat emaw tal neih.
• Fingernail emaw toenail fibroma pakhat tal neih.
• Shagreen patch pakhat tal neih.
• Retinal lesion pakhat aia tam neih.
• Thluak chhungah emaw, thluak chung lamah emaw tissue bik lo thang lian tak tak awmna.
• Thinlung chhunga thanlenna chi khat bik.
• Cancer ni lo tumor (benign tumor) chi khat, lung, kal emaw lymph node emaw a nghawng thei neih.

Thil tenawm tak tak a awm

• Confetti vun natna a awm.
• Ha enamel-ah khur pali emaw a aia tam emaw neih.
• Kawng chhungah lump pahnih emaw a aia tam emaw awm.
• Retinal nodules a awm thin.
• Kidney-ah cyst pakhat aia tam neih.
• Cancer ni lo lumps (benign growths) chu taksa peng dang emaw hmun dangah emaw a awm.

Diagnostic test te pawh a awm

Tuberous sclerosis (TSC) hian symptom leh effect hrang hrang a thlen theih avangin test tih theih tam tak a awm. Heng test te hi i symptoms a zirin a danglam ang. I doctor chuan eng test nge i mamawh tih leh engvangin nge tih a nih tih a sawifiah thei ber ang. A hnuaia tarlan te hi tuberous sclerosis (TSC) test hman tlanglawn ber berte an ni. Genetic testing hi TSC diagnosis confirm leh TSC gene-a specific mutation hriatchhuahna atana hmalakna hnuhnung ber a ni.

Thluak nena inzawm symptoms test te

Thluak nena inzawm symptoms i neih chuan, a bik takin seizures i neih chuan (or seizures i nei thei tih finfiahna a awm chuan), diagnostic imaging leh test dang i neih tam zawk mai thei. Heng scan leh test te hi:

• CT scan (Computed tomography - CT scan) hmanga tihchhuah a ni.
• MRI scan (Magnetic resonance imaging - MRI scan) hmanga enfiah a ni.
• EEG (Electroencephalogram - EEG) (Hei hian thluak electric hnathawh dan a test thin) .

Doctor chuan rilru lama harsatna i neih a rinhlelh chuan cognitive test bik neih a rawt thei ang. Heng test te hian i thluak leh ngaihtuahna kalphung hnathawh danah harsatna awmte chu a hriat theih nan a pui thin. Chûng zîngah chuan hriatrengna, rorelna, leh thu tlûkna siam ang chi thila buaina emaw hna emaw a tel tlangpui.

Vun nena inzawm natna lan chhuah dan test

Tuberous sclerosis (TSC) hmuhchhuah nan taksa enfiahna hi a pawimawh hle. Hetiang dinhmun chhinchhiahna leh chhinchhiahna tam tak hi naupan lai atanga hmuh theih a ni. Doctor-in TSC i neih leh neih loh a finfiah theihna tur test thenkhat a awm. A hman tlanglawn berte chu:

• Wood’s lamp examination : Hei hi non-invasive test a ni a, ultraviolet light hmangin ash leaf spots a eng em tih enfiah a ni.
• Skin biopsy : Vun te tak te la in an enfiah thin.

Taksa chhungril lama inthlak danglamna test

TSC hmuhchhuahna atana hmanraw pawimawh tak chu genetic testing hi a ni. Damlo 75% leh 95% inkar hian TSC1 emaw TSC2 genes-ah mutation an nei a ni. Detectable mutation awm lovin natna hi neih theih a ni a, mahse hei hi a tlem hle.

TSC nena inzawm inthlak danglamna tam tak hi mi pakhat chu nausen pum chhunga nausen anga a lo thanglian lai atanga intan a ni. Doctor-te chuan nau neih hmaa enkawlna pangngaiah, a bik takin ultrasound enfiahnaah emaw, nau neih hnu lawka CT emaw MRI scan emaw hmangin heng inthlak danglamna hi an hmu thei ṭhin.

Tuberous sclerosis (TSC) hi eng enkawlna nge ni?

Tuberous sclerosis (TSC) hi a dam kim thei lo . Engpawhnise,A tam zawk chu enkawl theih a ni. Enkawl dan tur chu i natna lan chhuah dan chi hrang hrangah a innghat tlangpui. Enkawlna hman tlanglawn ber berte chu:

• Damdawi : Damdawi hian TSC natna lan chhuahna tam takah a pui thei a ni. Damdawi thenkhat chuan thluak kaihhnawih symptoms, seizures ang chi te chu a control thei a ni. Damdawi dangte hian taksa peng hrang hranga tumor leh thanna avanga symptoms awmte chu a tidam thei a ni.
• Surgery : A then phei chuan taksa chhunga tumor lo awm tawhte paih chhuah nan surgery neih a ngai thin.
• Dermatology treatment : Hengte hian vun chunga emaw, vun hnuai emawa bumps hmuh theih (a pum emaw, a then emaw) te chu a paih chhuak thin.

Damdawi chi hrang hrang

I natna lan chhuah dan azirin i doctor pawhin damdawi dang a pe thei bawk. Mahse, chûngte chu thil tam takah a innghat fo a, chu chu i natna lan chhuah dân te, i hrisêlna chanchin te, mi mal mamawh te, leh i duhzâwng te a ni.

Damdawi chi hrang hrang hian TSC natna lan chhuah dan a tidam thei a ni. Damdawi chi hrang hrang, tumor lo thang chakna tikhawtlai, titawp thei, emaw, tihtlem theitu emaw a awm. Damdawi hman tlanglawn dang chu seizures venna a ni. Seizures hi TSC natna lan chhuah dan tlangpui leh hlauhawm ber pakhat a ni.

Inzai

TSC nena lo thanglian te hian harsatna a thlen thei a, chu chu a awmna hmun a zirin a ni. A châng chuan, taksa peng hrang hrang emaw, taksa peng hrang hrangte tana harsatna thlentu ṭhang liante chu paih chhuah nân operation neih a ngai ṭhin. I doctor chuan surgery leh enkawlna dang i neih theih dan tur a hrilh belh thei che a ni.

Dermatology hmanga enkawl dan tur

TSC chhinchhiahna tam tak chu hmuh theih a ni. Hei hian lungkhamna te, mualphona te, leh mualphona te a siam thei che a ni. Dermatologist hian TSC nena lo awm vun inthlak danglamna tihtlem emaw, tihbo emaw a pui thei a ni. Heng enkawlnate hi a tlangpuiin hun rei lote atan ni mah se, i rilru hriselnaah danglamna nasa tak a thlen thei a ni.

TSC nena inzawm vun natna lan chhuah dan dermatological treatment entirnan thenkhat chu:

• Cryoablation ( khawsik nasa tak hmanga tissue tihchhiat) .
• Laser hmanga vun rawn lang leh (laser hmanga vun rawn lang leh) .
• Dermabrasion emaw dermaplaning (vun chunglam hrual chhuah) .
• Excision ( surgery tenau tak, pianpui chhinchhiahna lak chhuah ang chi) .
• Skin grafts a ni

Enkawlna avanga harsatna/side effect awm thei

TSC enkawlna avanga side effect emaw complication awm thei te hi a inang lo hle a, a bik takin symptom hrang hrang leh enkawlna kawng hrang hrang a tam em avangin. Hemi avang hian i doctor chuan eng side effect emaw, complication emaw i neih theih dan tur chu a hrilhfiah thei ber che a ni. Enkawlna atanga a dam leh theih nan eng chen nge a rei dawn tih pawh a hrilh thei bawk.

Tuberous sclerosis (TSC) vei theihna hi tihtlem emaw, ven theih emaw a ni em?

Dik tak chuan tuberous sclerosis (TSC) hi ven theih a ni lo . I chhungkuaa mi (nu leh pa emaw, unau emaw) chuan TSC a vei a nih chuan, genetic counseling hian i fain he natna hi a rochun theihna tur leh a tihziaawmna tura hmalakna tur i neih leh neih loh hriatthiamna a pe thei che a ni. Mithiamte chuan he counselling hi an rawt fo thin.

Tuberous sclerosis (TSC) i neih chuan eng nge i beisei theih ang?

TSC vei tam tak chuan kum khatah vawi khat emaw vawi hnih emaw vel chu imaging test neih fo a ngai a, a bik takin MRI scan neih a ngai a ni. Hei hi naupan lai atanga tan a ni tlangpui a, kum 21 vel thleng a awm thin a, mi thenkhat chuan an dam chhungin scan neih fo thin a ngai a, chu chu a lo thang thar leh awm loh enfiah nan emaw, a lo thang tawhte enfiah nan emaw a ni.

TSC hian a nghawng dan hi a nasat dan azirin a danglam thei hle a ni:

• Mild cases : Mild cases nei te chuan damdawi ei emaw, enkawl fo emaw a ngai mai thei a, mahse he natna hian an nun a nghawng lian lo hle. Heng mite hian a tlangpuiin TSC nei lote ang bawka dam rei an beisei thei a ni.
• Moderate cases : Moderate cases ah chuan symptoms hian harsatna engemaw zat a thlen thei. Mahse, enkawlna leh damdawi lam enkawlna mumal tak hmang hian heng nghawngte hi enkawl theih a ni fo. Heng mite hian dam rei zawng pangngai emaw, a tawi deuh emaw an beisei tlangpui.
• Severe cases : Heng mite hian rilru lama harsatna an nei thei a, epilepsy na tak an nei thei a, harsatna dang an nei thei bawk. Ṭhenkhat chu mahni chauha khawsa thei lo an ni thei a, a nih loh leh an dam chhûng tam zâwk emaw, an dam chhûng zawng zawng emaw chu damdawi lam enkawlna thiam tak an mamawh thei bawk.

Tuberous sclerosis (TSC) hi eng chen nge a awm?

Tuberous sclerosis (TSC) hi dam chhung zawnga natna awm reng a ni .

Engtin nge ka in enkawl ang?

I doctor-in damdawi a pek chuan a pek ang chiah chiah i ei tur a ni. Doctor nen inbia lovin damdawi ei kha bansan suh. A tihtawp nghal chuan i natna lan chhuah dan a lo lang leh emaw, a zual zel emaw theihna a tipung thei a ni.

I in enkawl dan dangte chu mi tin a inang lo thei. Thil tam takin hei hi a nghawng a ni. I doctor hi i in enkawl dan tur leh i dinhmun enkawl dan tur i tih tur leh tih theih dan tur kaihhruaina pe theitu tha ber a ni.

Engtikah nge Doctor ka hmuh ang?

Tuberous sclerosis (TSC) i neih chuan i dam chhungin doctor i pan fo a ngai mai thei. Hei hian i doctor chuan i dinhmun a enfiah thei a, a danglamna a awm leh awm loh a enfiah thei bawk. TSC nena inzawm harsatna lian tham lo thleng thei tur venna atan heng pahnih hi a pawimawh hle.

Engtikah nge Emergency Department (ETU) ah ka kal ang ?

I natna lan chhuah dan leh i seizures awmna hmun a zirin damdawi lam pan vat a ngai tih hriattirna engemaw zat a awm. Chung zinga langsar ber pakhat chu Status Epilepticus (SE) .

SE chu minute nga aia rei seizure i neih emaw, a zawna seizure vawi hnih emaw a aia tam emaw, dam leh hun nei lo i neih hian a ni. SE hi nunna atana hlauhawm medical emergency a ni . Mi pakhat, seizure nei, heng symptoms zinga pakhat ve ve nei i awm chuan 911 (or i local emergency number) ah i call nghal tur a ni.

Damdawi lam pan ngai symptom dang pawh a inang lo thei. I doctor chuan eng symptom nge i fimkhur tur tih leh i tawn emaw i hmuh emaw a nih chuan eng nge i tih theih tih a hrilhfiah thei ber che a ni.

A tawp berah chuan thil hriat reng tur

Tuberous sclerosis complex (TSC), a nih loh leh tuberous sclerosis hi taksa hmun hrang hrang, a bik takin thluak emaw vun emaw-ah cancer ni lo, a lo piang chhuak thin, genetic condition hmuh tur awm lo tak a ni.

Lungngai suh. Tunlai damdawi leh imaging technology lama hmasawnna avang hian he natna hi dam chhung zawngin a tul angin enkawl leh enkawl theih a ni fo thin. TSC vei tam tak chu dam rei tak, hrisel takin an nung thei a ni.

Hemi chungchangah hian zawhna dang emaw, ngaihtuahna dang emaw i neih chuan i doctor nen inbia ngei ang che. Thurawn dik ber leh tha ber ber pe theitu che an ni.

` Tuberous sclerosis, genetic diseases, thluaka tumor, vun hring, seizure, hmasawnna tlai, enkawl