I fa tê tê tê a var lai chu i ngaihtuah em? A nih loh leh i fain fit a neih fo avangin i lungngai em? Heng natna lan chhuah chhan hi thil awm lo tak a ni thei. Vawiin hian chutiang dinhmun hmuh tur awm lo mahse enkawl theih pakhat chu kan sawi dawn a ni. Chu chu tuberous sclerosis a ni.
A awlsam zawngin, tuberous sclerosis chu eng nge ni?
Tuberous Sclerosis Complex (TSC) hi genetic condition awm lo tak a ni a, taksa peng hrang hrangah cancer ni lo tumor a lo awm a, a bik takin thluak, vun, kal, thinlung, leh lungah te a awm a ni. Hei hi cancer a ni lo tih hriat reng a pawimawh .
He natna hian mi tin a nghawng dan hi a inang lo hle. Mi thenkhat chuan symptoms an nei tlem hle a, nun pangngaiin an hmang thin. Mahse mi thenkhat tan chuan he natna hi a na zawk thei. Chuvangin harsatna na tak tak a awm thei a ni.
He natna hi hun kal zelah a lo thang zauh zauh thin. Natna lan chhuahna ṭhenkhat chu naupan laia a lan theih laiin, ṭhenkhat erawh chu kum tam tak a la ngai thei a ni. Chuvangin, he natna vei tan chuan a dam chhung zawng doctor enkawlna hnuaia awm reng a pawimawh hle.
He natna hian tute nge a tuar ber?
Hei hi pianpui (congenital condition) a ni. A tam zawkah chuan naupang chu thla 7 vel an nih laiin he natna hi an vei tih hmuhchhuah a ni. Amaherawhchu, natna lanchhuahna tlemte nei te zingah he natna hi hmuhchhuah a nih theih nan kum tam tak a ngai thei a ni. He natna hi tu pawhin an vei thei a, mipa leh hmeichhia, chi leh sakhua thliar lovin. Khawvel pumah mi maktaduai khat velin he natna hi an vei nia chhut a ni.
Tuberous sclerosis natna lan chhuah dan chu engte nge ni?
Symptoms hi lump awmna organ-ah a innghat fo thin. Heng symptoms te hi chi thum ah then ila.
1. Thluak kaihhnawih natna lan chhuah dan
2. Vun nena inzawm natna lan chhuah dan
3. Taksa peng dang nena inzawm symptoms
1. Thluak kaihhnawih natna lan chhuah dan
He natnaa tumor awm tam ber chu thluaka a ni. Hengte hi cancer vei lo mah se, thluak hnathawh a tibuai thei a ni.
- Seizures: Hei hi a lan chhuah dan tlangpui leh hlauhawm ber a ni. Seizure chi hrang hrang a awm thei.
- Brain tumors: Tumors (Subependymal giant cell astrocytoma - SEGA) hi thluak ventricles-ah a awm thei. Chungte chu a lian a nih chuan thluaka tui a awm khawm thei a, chu chuan hydrocephalus an tih natna a thlen thei a ni.
- Hmasawnna tlai leh rilru lama harsatna: Mi zawng zawng hian hengte hi kan nei vek lo a, mahse naupang thenkhat chuan zirlai lama harsatna leh tawng thiam lohna an tawk thin.
- Nungchang lama harsatna nei: 1.1.He natna nen hian autism spectrum disorder emaw attention deficit hyperactivity disorder (ADHD) ang chi condition te hi a awm dun thei a ni.
2. Vun kaihhnawih natna lan chhuah dan
He natna hi vun symptoms hmanga hriat hmasak a ni fo. He natna vei zinga 90% vel chuan a hnuaia chhinchhiahna pakhat emaw a aia tam emaw an nei ang:
| Skin feature a ni | Hrilhfiahna |
|---|---|
| Ash hnah hring hring a awm | Melanin tlakchham vangin vunah hmun dum a awm. Hengte hi a chang chuan vun dum neiah hian chiang takin a lang lo. Ultraviolet (UV) light bik hnuaiah an eng chhuak thin. |
| Hmaiah fibromas a awm | Hmaiah, a bik takin hnar leh hmui sir lehlamah, vun sen te te a lo lang thin. Chungte chu an lo thang dun thei a, vun lian tak ang maiin an lang thei bawk. |
| Shagreen patch a awm bawk | Hengte hi vun hnuaia fibrous tissue a awm khawm a, vun aiin a thuk zawk a, orange peel ang maia lang spot te an ni. An hnungzang hnuai lam ah hmuh tur an tam ber. |
| Kut zungtang leh ke ruh fibromas | Kut leh kea nail vel emaw hnuai emawa lo awm thin bumps te te. Hengte hi puitlin lai hian a lo lang tan tlangpui. |
| Confetti mark a ni | A te hle a, dot ang maia var a awm. Confetti ang maia an lan avangin an hming an pu ta a ni. |
3. Taksa peng dang nena inzawm mizia
- Kidney lama harsatna nei:Kidney-ah hian kidney stone emaw cyst emaw a lo awm thei a. Hei hian kidney failure, hnungzang emaw pelvic na emaw, zun chhunga thisen a thlen thei bawk. A tlem berah chuan kal (kidney failure) emaw, kal cancer (renal cell carcinoma) emaw a awm thei.
- Cardiac rhabdomyomas: Hengte hi naupang tê têah hmuh tur a tam ber. Naupang a lo puitlin chuan an tlahniam tlangpui. Mahse, tumor lian tak tak thenkhat chuan thinlunga thisen kal chu a tikhawlo thei a ni.
- Mit lama harsatna: Mit retina-ah hian tumor a lo awm thei a, mahse mit lama harsatna hi a tlem hle.
- Kawngkhar inthlak danglamna: Ha-a hliam te te emaw, ha-a enamel pitting emaw ang chi thil i hmu thei.
Eng thilin nge tuberous sclerosis hi a thlen?
A awlsam zawngin sawi ila, hei hi genes inthlak danglamna (mutation) avanga lo awm a ni. Kan taksaah hian cell te thanlenna leh inthen darhna thununtu protein a awm a. He natnaah hian heng proteins (TSC1 emaw TSC2 genes an tih) siam tura hrilhtu genes-ah hian chhiatna a awm a. Tichuan cell te chu thunun theih lohvin an thang lian a, lumps an siam ta a ni.
He genetic defect hi a lo awm theih dan kawng hnih a awm a:
1. Sporadic: A tam zawkah ( hmun thuma ṭhena hmun hnih vel) he genetic defect hi thil thar a ni. Chu chu nu leh pa pawhin natna an nei lo tihna a ni. He genetic defect hi nausen naupai hnuah a thleng mai mai a ni.
2. Inherited: A hmun thuma ṭhena hmun khat velah chuan naupangin natna vei nu leh pa hnen aṭangin a rochun a ni.
Engtin nge natna hi kan hriat theih ang?
Doctor chuan he natna hi a lan chhuah dan enfiahin a hrechhuak thin. Heng symptoms te hi chi hnih ah then a ni a, "major features" leh "minor features" te an ni.
Natna hi chiang taka finfiah tur chuan, symptom lian pahnih emaw a aia tam emaw a awm tur a ni , emaw symptom lian pakhat leh symptom tenau pahnih emaw a aia tam emaw a awm tur a ni.
A chang chuan, hun kal zelah symptoms a lo awm avangin, a tir lamah chuan natna hi "possible TSC" tia chhiar theih a ni.
Natna hriat theihna atana test hman \henkhat chu:
- Thluak tan: Thluak MRI emaw CT scan emaw, EEG test hmanga seizures awm leh awm loh enfiah.
- Vun tan: Vun enfiahna, a bik takin Wood-a lamp enfiahna hmanga hmun dum chiang taka hriat theih.
- Kidney tan: Abdominal ultrasound emaw MRI scan emaw hmanga enfiah a ni.
- Thinlung tan: Echocardiogram.
- Genetic testing: Thisen sample lak hian TSC1 emaw TSC2 emaw gene-ah chhiatna a awm leh awm loh a finfiah theih.
I doctor chuan i symptoms a zirin eng test nge a tul tih a rel ang.
Hei hi eng enkawlna nge ni?
Tuberous sclerosis hi a dam kim thei lo. Mahse, a natna lan chhuah dan control leh enkawl dan tur damdawi tha tak tak a awm. Enkawlna chu a lan chhuah danah a innghat a ni.
- Damdawi hman tur: 1.1.
- Seizures control nan: Seizures damdawi chi hrang hrang a awm a.
- Tumor tihtlem nan: Damdawi chi khat mTOR inhibitor an tih hian thluak, kal leh hmun dangah tumor te chu a control thei a, a ti tlem thei bawk.
- Surgery: A chang chuan tumor lian tak tak, taksa peng tichhe thei te chu surgery hmanga lakchhuah a ngai mai thei. A bik takin thluaka tui luang chhuak tikhawlotu tumor te hi paih chhuah a pawimawh hle.
- Dermatology treatments: Mi thenkhat chuan hmai leh vun natna langsar tak takte chu an mualpho mai thei. Laser skin resurfacing leh dermabrasion ang chi enkawlna hian an hmel a ti tlem thei hle.
- Enkawlna dang: Naupang hmasawnna tlai te tan pawh speech therapy leh occupational therapy ang chi enkawlna te hi a \angkai hle.
He natna nena nung chung hian eng nge i beisei theih ang?
He natna vei tam tak hian kum 1-2 danah vawi khat tal MRI ang chi scan an neih a ngai a, a bik takin naupan lai hian tumor te hi an lo thang lian zel dan enfiah a ngai a ni.
He natnain nghawng a neih dan hi mi hrang hrangah a inang lo hle.
- Symptoms na lo nei te: Symptoms te hi a na lo hle. Damdawi engemaw zat an ei a ngai mai thei. Mahse an nun tibuaitu lian tham awm lovin nun pangngai an hmang thei a ni.
- Thiltihtheihna tlemte nei: A natna lan chhuah danin harsatna engemaw zat awm mah se, enkawlna leh damdawi lam enkawlna mumal tak nen chuan a enkawl tha thei a ni.
- A tuar nasa hle: Heng mite hian seizure na tak tak, rilru lama harsatna nei, etc. Anmahni chauha awm harsa an ti thei a, damdawi lam enkawl reng reng an mamawh thei bawk.
Engtikah nge Doctor ka hmuh ang?
Nang emaw i fa emaw hian TSC i nei a nih chuan i dam chhungin doctor pan tur a pawimawh hle. Hei hian harsatna thar eng pawh a hmaa hriatchhuah leh enkawl a pui thei a ni.
Engtikah nge Emergency Treatment Unit (ETU) ah i kal ang?
Minute 5 aia rei (fit) emaw, a zawna vawi tam tak seizure (status epilepticus) emaw chu medical emergency a ni. Chutiang hunah chuan damlo chu damdawi in pakhat Emergency Treatment Unit (ETU)-ah hruai nghal tur a ni.
Tin, i doctor-in a bik taka fimkhur tura a hrilh che symptom (e.g., lu na nasa tak, kal na) i neih chuan doctor rawn la nghal rawh.
Take-Home Thuchah a ni
- Tuberous sclerosis hi genetic disease a ni a, mahse a tam zawkah chuan rochun a ni lo.
- He natnaah hian lumps lo awm hi cancer a ni lo.
- Mi tin hian natna lan chhuah dan a inang lo hle. Skin rashes leh seizures te hi a lan chhuah tam ber a ni.
- He natna hi tihdam kim theih ni lo mah se, a natna lan chhuah dan thunun thei tur leh nun tha tak nei thei tur enkawlna tha tak tak a awm a ni.
- Doctor hnenah a hun taka checkup neih a pawimawh hle a, damdawi ei tur pawh a tih angin ei a pawimawh hle.
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