I fa hian heng symptoms te hi a nei em? Costello Syndrome chungchang hi i zir dawn teh ang!

A chang chuan kan fate’n natna thenkhat an neih tur thu kan hriat hian kan buai takzet thin a ni lawm ni? A bik takin natna rare tak a nih chuan. Chutiang genetic condition hmuh tur awm lo tak pakhat, mi tam takin an hriat ngai loh, mahse hriat a pawimawh chu Costello Syndrome hi a ni. Tlem a chipchiar deuhin, awlsam takin han sawi ila. Hei hi ka tan a hman loh i ring mai thei, mahse he hriatna hi engtikah emaw chuan mi pakhat tanpui nan a tangkai dawn a ni.

Costello Syndrome hi eng nge ni?

A awlsam zawngin sawi ila, Costello Syndrome hi genetic condition awm lo tak a ni a, taksa peng tam tak a nghawng thei a ni. Entîr nân, taksa peng hrang hrang tam tak, thluak, ruh, thinlung, ril, ruh, kal leh vun te a nghawng thei a ni.

Tunah chuan han ngaihtuah teh, kan taksaah hian cell kan nei a. Heng cell te hi min tipungtu leh min siam thattu an ni. A tlangpuiin heng cell te hi control thenkhat angin an thang lian a, an inthen darh thin. Mahse, Costello syndrome-ah chuan heng cell-te hian "a thang lian lutuk leh inthen darh lutuk, rang lutuk" tura thupek an dawng ang mai a ni. A chhan chu cell thanna thununtu protein-ah hian chhiatna a awm vang a ni. Chutiang chuan cell-te chu a ṭul lo va, rang takin an pung a, cancer leh cancer ni lo tumor lo awm theihna a tipung a ni .

Hetiang dinhmun hi engtiang chiahin nge a awm?

Dik tak chuan Costello syndrome hi a awm lo hle a ni. Khawvel pumah mi 100 atanga 1500 vel chauhin he natna hi an vei nia chhut a ni. Hei hian a awmzia chu a awm lo hle tihna a ni.

Costello syndrome natna lan chhuah dan chu engte nge ni?

Costello syndrome natna lanchhuah dan hi mi hrang hrangah a inang lo thei a, a nasat dan pawh a inang lo thei bawk. Heng symptoms te hian taksa peng hrang hrang a nghawng a ni. A lan chhuah dan lian ber berte hi han thlir ila:

• Lung natna: Heart rhythm mumal lo (`arrhythmia`) leh heart muscle thickening (`hypertrophic cardiomyopathy`) ang chi dinhmun a awm thei. Hengte hi a chhinchhiahna hlauhawm ber pawh a ni mai thei.
• Nau hnute pek leh chaw pek harsatna: A bik takin nausen lai hian nausen tan hnute pek leh ei a harsa thei hle. A châng chuan feeding tube a ngai thei bawk.
• Spinal curvature: Spinal curvature (spinal curvature) chu a sir lam hawia inher (scoliosis) emaw, hmalam pan (kyphosis) emaw ang chi dinhmun a awm thei.
• Thinlung lama harsatna leh thluak than dan dik lo: Thinlung lama harsatna na lo leh a hniam lam a awm thei. Thluak thanna lama thil danglam thenkhat, Chiari malformation te pawh hmuh tur a awm thei bawk.
• Mit leh ha lama harsatna: Mit lama harsatna, ha awmna emaw, a lo than dan emaw lama harsatna a awm thei.
• Kidney-a structure inthlak danglamna: Kal pianzia emaw, a awmna hmunah emaw inthlak danglamna engemaw zat a awm thei.
• Muscle weakness (hypotonia): Taksa chhunga muscle te hi a lo hring deuh thei a, chakna pawh a hniam thei bawk.

Taksa mizia hmuh theih

Heng symptoms bakah hian naupang leh puitling Costello syndrome vei te hmel lan danah hian thil danglam bik thenkhat hmuh tur a awm a:

• Finger leh wrist joint flexion lutuk.
• Heel hnung lamah Achilles tendon tight tak neih.
• Lu chu a tlangpui aia lian, hmui lian, hmui khat, hnar zau tak, leh hmaiah a hring deuh deuh nei .
• Kut leh kea vun hring (`cutis laxa`) nei.
• Naupan laia thanna zawi zawia puitlin hnua san zawng hloh.
• Vun hmun thenkhat chu a chhehvel vun aiin a dum zawk (hyperpigmentation).

Engvangin nge hetiang dinhmunah hian tumor hi a lo awm?

Ka sawi tawh ang khan Costello syndrome thlentu genetic mutation hian cell te chu a ti thang lian a, a inthen darh chak hle. Chu cell inthen tam lutuk chu tumor siamtu a ni. Heng tumor te hi cancer emaw non-cancerous (benign) emaw pawh a ni thei.

Hengte hi nut chi hrang hrang zingah chuan a langsar zualte chu an ni:

• Papilloma (non-cancerous): Hengte hi hnar, hmui emaw, hnute vel emaw vel a lo lang thei, hnar ang maia lian te te an ni.
• Rhabdomyosarcoma (cancer): Hei hi naupan laia taksa peng hrang hranga awm thin cancer a ni.
• Neuroblastoma (cancer): Hei hi nerve cell cancer a ni bawk a, naupang leh puitling tleirawl zingah a tam ber.
• Transitional cell carcinoma (cancer): Hei hi bladder cancer chi khat a ni a, puitlingah a awm thin.

Eng thilin nge Costello syndrome hi a thlen?

Costello syndrome thlentu ber chu kan gene-a HRAS gene a mutation vang a ni. He HRAS gene hian protein pakhat H-Ras tih a siam chhuak a. He protein hna hi cell thanna leh cell inthen darh dan control a ni.

He H-Ras protein hi light switch angin han ngaihtuah teh. HRAS gene hian mutation a neih chuan he protein "off" switch hian hna a thawk tawh lo. Protein chu "on" reng ang mai a ni. Chuvang chuan cell-te chuan "a lo thang lian zawk, an inthen tam zawk" tih signal tul lo tak tak an dawng fo thin. Hei hi Costello syndrome genetic background bulpui ber a ni.

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

Costello syndrome vei tam zawk hi genetic change thar (`de novo` mutations) avanga lo awm a ni. Hei hian naupang pakhatin random takin he natna hi a nei thei tihna a ni a, chhungkaw zingah tumahin he natna hi an lo nei tawh lo tihna a ni.

Mahse, a tlem hleNaupangte chuan he dinhmun hi an nu leh pate hnen atangin an rochun thei a ni. Hei hi ``autosomal dominant'' an ti a. Chumi awmzia chu nu leh pa pakhat chauhvin genetic variation nei mahse naupangin a rochun theihna chance 50% vel a awm tihna a ni.

Tute nge Costello syndrome nei thei?

Hetiang dinhmun hi tu pawhah a awm thei. Sawi tawh ang khan a lo thleng fo thin a, chhungkaw history a awm lo.

He natna hi engtin nge an hriat chhuah? (Diagnosis) tih a ni.

Costello syndrome hi naupan lai atanga hmuhchhuah a ni tlangpui. Doctor chuan naupang natna lan chhuah dan uluk takin a enfiah hmasa ang. Tichuan, genetic test neih a ni ang a, genetic abnormality a awm tih finfiah a ni ang. Doctor chuan chhungkaw zingah hian genetic disorder nei tawh an awm em tih pawh a zawt ang a, chu chu rochun theih a nih loh vang a ni.

A châng chuan, Costello syndrome chhinchhiahna chu genetic condition dang, cardiofaciocutaneous syndrome (CFC syndrome) leh Noonan syndrome -te ang chi nen a inang thei a ni. Chuvangin, diagnosis dik tak atan chuan genetic testing hi a pawimawh hle. Heng dinhmunte hi inthliarna siamsaktu a ni.

Costello syndrome hi eng enkawlna nge ni?

Vanduaithlak takin Costello syndrome hi damdawi chiang tak a la awm lo. Chuvangin enkawlnaah hian symptoms control leh management lam a ngaih pawimawh ber a ni. Enkawlna kawng hrang hrang a awm a:

• Surgery: Lung natna, ei leh in lama harsatna, leh ruhro (spinal stenosis) ang chi thilte tan operation neih a ngai mai thei.
• Damdawi: Lung natna lan chhuah dan control nan damdawi beta-blocker, calcium channel blocker, antiarrhythmic damdawi te pek thin a ni.
• Mit hmuh that nan: glasses vuah emaw, mit surgery emaw nei rawh.
• Muscle tichak tur leh ruh thanna lama thil danglam awmte enkawl nan: special supports (`brace`) vuah, physical therapy leh occupational therapy pek.
• Special Education Programs: Naupang sikula zirlai pui turin special education programme-a refer.
• Tumor enkawl dan: Cancer natna vei tan surgery emaw chemotherapy emaw hmanga enkawl. Cancer ni lo tumor, papillomas ang chi te chu dry ice hmanga paih chhuah .

A pawimawh ber chu heng enkawlna zawng zawng hi doctor-in a tih angin, naupang dinhmun leh a natna lan chhuah dan azirin zawm vek a ni.

Hetiang dinhmun nen hian nun chu eng ang nge ni ang?

Costello syndrome hi dam chhung zawnga natna a ni.Damdawi bik a awm lo. Hetiang natna vei dam rei zawng hi a natna lanchhuahna nasat dan azirin a innghat a, a bik takin thinlung lam natna a zirin a innghat a ni.

Mahse, natna hi hriat hmasak a nih a, enkawl tan thuai a nih chuan naupang chu nun tha tak nei turin a pui thei a ni. Enkawlna hian natna lan chhuah dan a thunun mai bakah, cell inthen tam lutuk avanga tumor awmte pawh a enkawl bawk. Chuvangin beiseina a awm.

Costello syndrome hi ven theih a ni em?

Dik tak chuan he natna hi ven a harsa hle. A chhan chu, a tam zawkah chuan, random takin, beisei loh takin a thleng thin. Mahse, i chhungkuaa mi pakhatin Costello syndrome ang chi genetic disease a nei tih i hriat chuan doctor nen inbiakna neih a, genetic counseling (`genetic counseling`) leh a tul chuan `genetic testing` tih te hmangin i hlauhawmna tur ngaihtuahna engemaw zat i nei thei ang.

Engtik hunah nge doctor ka hmuh ang?

I fa chu Costello syndrome a vei tih hmuhchhuah a nih a, an nunphung pangngai tichhe thei symptoms a lantir a nih chuan , a bik takin ei leh in lama harsatna a neih emaw, a than chak lohna emaw a neih chuan doctor pan nghal rawh.

Emergency room-a kal tur pawh a awm a, a bik takin heng thinlung lam natna lanchhuahna te hi i neih chuan:

• Lungphung pangngai lo taka chak emaw, slow emaw.
• Thâwk harsa.
• A rilru a na.
• Luak chhuak emaw, lu hah emaw tih hriat.

Heng symptoms te hi i hmuh chuan tihkhawtlai suh.

Doctor hnena zawh tur pawimawhte chu engte nge ni?

I fain hetiang natna hlauhawm tak a nei tih i hriat chuan zawhna tam tak neih hi thil pangngai a ni. I doctor hnenah hetiang zawhna hi zawh a pawimawh:

• Enkawlna pekte hian eng side effect nge a neih?
• Ka fa hian operation a mamawh em ?
• Ka fa natna lan chhuah dan enfiah turin engzat nge checkup turin ka lo kal ang ?
• Ka fa hian specialist service a mamawh em ? (e.g. rilru lam doctor, geneticist) .

A tawp berah chuan thil hriat reng tur (Take-Home Message) .

I fa hian Costello Syndrome ang chi genetic condition hmuh tur awm lo tak a nei tih i hriat chuan i rilru a buai a, i lungkham hle. Tu tan pawh a inang vek. Mahse , nangmah chauh i ni lo tih hre reng ang che. Doctor leh healthcare worker-te chuan theihtawp chhuahin i fate chu an mamawh enkawlna leh enkawlna tha ber pek an tum a ni.

A pawimawh ber chu i fate natna lan chhuah dan hriat reng hi a ni. A bik takin cell inthen tam lutuk avanga tumor te tak te awm thei te chu fimkhur hle ang che. Chungte chu a hmaa hriatchhuah leh enkawl a nih chuan a rah chhuah a tha zawk.

He thu hi in tan a tangkai ngei ka beisei. Zawhna dang i neih chuan doctor biak hreh suh.

` Costello Syndrome, genetic natna, natna hmuh tur awm lo, naupang hriselna, HRAS gene, cancer hlauhawmna, symptoms