Vun, sam leh mit rawng inthlak danglamna nen hriatna hloh i nei bawk em? Hemi (Waardenburg Syndrome) chungchang hi han sawi ila!

A châng chuan kan mite zîngah hian naupan lai aṭanga sam dum hring hring, emaw, mit pakhat chu a dum a, pakhat chu a dum a ni tih i hre tawh mai thei. Mi thenkhat chuan naupan lai atang tawhin hriatna lama harsatna an nei thin. A châng chuan chutiang thila kan hriat loh chhan (genetic reason) a awm thei bawk. Chu chu chutiang dinhmun bik pakhat chu vawiinah hian kan sawi dawn a ni (Waardenburg Syndrome) . Hlau suh, he thu hi awlsam takin, i hriatthiam theih dan tur angin kan sawi dawn a ni.

Waardenburg Syndrome hi eng nge ni? A awlsam zawngin...

Okay, tunah chuan hei (Waardenburg Syndrome) hi eng nge a nih kan en ang. Hei hi genetic condition a ni a . Chu chu kan taksaa genes inthlak danglamna avanga lo awm a ni tihna a ni. A dik tak chuan, he natna hian i sam, i mit, leh vun rawng (pigmentation) a tidanglam thei a ni . Chu mai ni lovin, mi thenkhat chuan hei vang hian hriatna lama harsatna an nei thei bawk. Hei hi chi pali (Waardenburg Syndrome) a awm a. Heng chi hrang hrangte hi gene paruk a inthlak danglamna (mutations) hrang hrang avanga lo awm a ni. Type tin hian mizia danglam bik engemaw zat an nei vek a.

Waardenburg Syndrome hi tuin nge vei?

Hei hi genetic condition a nih avangin tu pawh a nghawng thei a ni. A tam zawkah chuan naupang hian he natna thlentu gene hi nu emaw, pa emaw aṭangin a rochun ṭhin. Damdawi lam hawi chuan hei hi ``autosomal dominant'' inheritance an ti a. Chutiang a nih chuan, gene petu nu leh pa pawhin chu natna chu a nei ve tlangpui. Ngaihtuah teh, nu emaw, pa emaw pawhin heng mizia hi a neih chuan naupang pawhin a nei thei a ni.

Mahse, a chang chuan Waardenburg Syndrome type II leh IV te hi ``autosomal recessive`` gene angin a kai thei bawk. Chumi awmzia chu nu leh pa pahnih hi a nghawng gene kengtu an ni tur a ni a, mahse symptom an nei lo tihna a ni. Mahse, nu leh pa pahnihin an fa hnenah gene hi an pe chhuak a nih chuan naupang chuan he natna hi a nei thei a ni.

A tlem hle a, chhungkaw history nei lo miah hian he natna hi a lo awm thei a, hei hi genetic mutation thar vang a ni.

Hei hi engtiang chiahin nge a hluar?

Waardenburg Syndrome hi mi 40,000 zinga pakhat velin a vei a ni . Tin, pianpui hriatna hloh 2% leh 5% inkar a thlen bawk.

Waardenburg Syndrome hian engtin nge ka taksa a nghawng?

Hei hi a thlentu genetic mutations hian i hriatna a tichhe thei a ni . Mi thenkhat chuan hriatna pangngai an nei a, thenkhat erawh chu an pianpuiin hriatna hloh nasa tak (congenital) nei an ni. Heng genes te hian i mit, vun, leh sam pianzia pawh a tidanglam thei bawk . Mit rawng hrang hrang pahnih emaw a aia tam emaw i nei thei. Hetiang dinhmun hian i vun hmun thenkhat chu a dang aiin a ti eng thei a, i sam chu a rawng a thlak thei a, i sam chu a dum thei bawk a, a bik takin kum naupang takah

Waardenburg Syndrome natna lan chhuah dan chu engte nge ni?

He syndrome natna lan chhuah dan hi mi hrang hrangah a inang lo. Chhungkaw khat chhungah pawh an danglam thei. A lan chhuah dan ber chu hriatna hloh leh sam, vun leh mit rawng (pigmentation) a ni. Tin, Waardenburg Syndrome chi hrang hrang a zirin symptom bik a awm bawk. Entirnan, type 1-ah chuan mit inkar hlat zawng a sang a, type 3-ah chuan kut leh kut zungtang-ah thil danglam a awm a, type 4-ah chuan intestinal disease Hirschsprung disease .

Hriatna lama harsatna nei

Waardenburg Syndrome vei thenkhat chuan beng pakhat emaw, beng pahnih emaw-ah hriatna hloh nasat lutuk an nei thei. Mahse, a then phei chuan hriatna hi a nghawng lo thei lo. He hriatna hloh hi pianpui a ni .

Pigmentation chhinchhiahna a awm

Waardenburg Syndrome hian i sam, vun leh mit rawng a tidanglam thei a, chu chu:

• A light hle a, mitmeng a sen hle.
• Mit pahnih rawng pahnih nei. Ngaihtuah teh, pakhat chu blue leh pakhat chu brown.
• Heterochromia irides chu mit pakhat chhungah pawh mit (iris) rawng hrang hranga rawng inthlak danglamna a ni.
• Sam chhunga sam dum tuft emaw tuft emaw awm, a tlangpuiin hmai chunglam (forelock).
• Kum naupang takah sam a dum (graying) thin.
• Vunah hmun dang aiin a hring (congenital leukoderma) .

Waardenburg Syndrome hi eng chi hrang hrang nge ni?

Waardenburg Syndrome hi chi li a awm a. Doctor chuan he chi hi i symptoms a zirin a diagnostic ang.

• Type I: Mit inkar hi a zau lutuk a, hnar bridge pawh a zau bawk.
• Type II: Hriatna hloh nasat lutuk.
• Type III - ``Klein-Waardenburg syndrome'' tia koh bawk: hriatna hloh, vun rawng inthlak danglam, leh kut leh kut zungtang ruh lo thanglian dan dik lo.
• Type IV - Waardenburg-Shah syndrome tia hriat bawk: Waardenburg syndrome thil dang zawng zawng nen hian Hirschsprung disease an tih pawh a awm bawk. Hei hian constipation nasa tak emaw, intestinal obstruction emaw a thlen thei a ni.

Chung zingah chuan type I leh II te hi a tam ber a ni. Type III leh IV hi a tlem hle.

Waardenburg Syndrome hi engte nge ni?

Waardenburg Syndrome hi a hnuaia gene pakhat emaw a aia tam emaw a mutation avanga lo awm a ni.

• `(EDN3)` (type IV tan) 1.1.
• `(EDNRB)` (type IV tan) 1.1.
• `(MITF)` (type II tan) 1.1.
• `(PAX3)` (type I leh III tan)
• `(SNAI2)` (type II tan) 1.1.
• `(SOX10)` (type IV tan) 1.1.

Heng genes te hi kan taksaa cell chi hrang hrang siamtu an ni. Chung zingah chuan cell chi khat bik ``melanocytes`` an tih chu heng cell atang hian a siam a ni. Heng cell te hian kan vun, sam leh mit te rawng pe thei pigment ``melanin pigment`` an siam chhuak thin.Heng cell te hian pigment an siam bakah hian kan beng chhung lam hnathawhna kawngah pawh an pui bawk. Chuvangin, heng genes zinga pakhatah pawh inthlak danglamna a awm chuan heng symptoms te hi a thlen thei a ni.

Waardenburg Syndrome hi engtin nge an hriat theih?

I fa doctor chuan Waardenburg Syndrome hi a pian tirh emaw, naupan lai emaw a ni tih a hmuchhuak mai thei . Anni hian taksa enfiahna an nei ang a, natna lan chhuah dan leh i chhungte damdawi lam chanchin an zawng ang. I doctor chuan i natna hriat chian nan leh i natna nena inzawm symptom dang zawng turin genetic test neih a rawt thei bawk a, chungte chu:

• Mit enfiahna a ni.
• Auditory test neih a ni .
• A lan chhuah dan chi hrang hrang a zirin beng chhung lam, kut leh kut zungtang emaw, intestine emaw-ah imaging test neih theih a ni .

Waardenburg Syndrome hi engtin nge enkawl a nih?

Waardenburg Syndrome chi hrang hrang hi enkawl a ngai lo. Amaherawhchu, natna lanchhuahna a awm chuan a tul anga enkawl a ni. Entir nan:

• Hearing aid hman emaw, hriatna lama harsatna nei tan cochlear implant surgery neih emaw.
• Sunscreen hman hian vun rawng inthlak danglamna hmunte chu ni atanga venhim a ni .
• Constipation (a bik takin type IV) i neih chuan damdawi emaw, high-fiber diet emaw ei rawh .
• Intestine a blocked part (type IV) lakchhuah emaw siamthat emaw tura operation tih .
• Vun hriselna vawng reng turin topical lotion emaw ointment emaw hman.

Waardenburg Syndrome hi ven theih a ni em?

Hei hi genetic mutation avanga lo awm a nih avangin, ven theih dan tak tak a awm lo . Mahse, genetic condition nei fa neih theihna tur i hriat duh chuan doctor nen genetic counseling leh testing chungchang i sawi thei ang .

Ka fa hian Waardenburg Syndrome a vei a nih chuan eng nge ka beisei ang?

I fa chu Waardenburg Syndrome a vei tih hmuhchhuah a nih chuan a dam chhungin hriatna test neih fo a pawimawh. Hei hian doctor emaw, audiologist emaw hmuh a huam thei a ni. Hei hi naupan laia hriatna lama harsatna lo awm hian hmasawnna milestone a tikhawtlai thei a , hriatna lama hmasawnna a nghawng thei a ni . Mahse, he natna vei te hian cochlear implant leh hearing aid hmangin hlawkna an hmu thei fo .

A pawimawh ber chu i fa hriatna hloh chu a hmaa hriatchhuah a, a tul anga inrawlhna pek hi a ni.

I fa sam, mit, leh vun rawng hian an ṭhiante aiin a ti hrehawm lo va, a danglamin a ti thei a ni. Chutiang hunah chuan naupang thenkhat chuan anmahni inrintawkna siam turin psychological counseling technique, cognitive behavioral therapy (CBT) te hmangin hlawkna an hmu thin.

Waardenburg Syndrome vei te hian dam rei zawng an nei tlangpui . Hei hi damdawi a awm lo a, mahse symptoms te chu enkawl theih a ni a, miten nun tha tak an hmang thei a ni.

Engtikah nge Doctor ka hmuh ang?

I symptoms hian nitin hna thawh a harsat phah a nih chuan, a bik takin hriatna lama harsatna i neih chuan , emaw, constipation fo ang chi harsatna i neih chuan doctor pan ngei ngei tur a ni.

Doctor hnenah eng zawhna nge ka zawh ang?

Doctor hmu tura i kal hian hetiang zawhna hi i zawt thei ang:

• Hearing aid hman a ngai em?
• Ka hriatna tihchangtlun nan operation ka mamawh em?
• Engtin nge ka vun hi ni laka ka venhim theih ang?
• Sam rawng danglam ka neih chuan ka sam hi ka dye thei ang em?

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

Waardenburg Syndrome vangin i hmel lan danah inthlak danglamna engemaw zat nei thei mah la, chutiang thilte chu i danglam bikna a ni . A châng chuan, a bîk takin naupangteah chuan, heng chhinchhiahnate hian i rilru a ti na a nih chuan, anmahni inrintawkna siam tûra ṭanpui tûrin rilru lam hrisêlna lama counselor biak hi a ṭha hle I fa chu Waardenburg Syndrome a vei tih hmuhchhuah a nih chuan a naupan lai zawng zawnga an hmasawnna milestone te ngun takin enfiah thin ang che. Hei hian symptoms te hian an intellectual development emaw, an thanlen that theihna emaw a nghawng loh nan a pui dawn a ni. Ngaihtuah buai suh, damdawi lam thurawn leh puihna dik tak nen chuan he natna hi hlawhtling takin i nung thei ang!

` Waardenburg Syndrome, genetic diseases, vun rawng inthlak danglam, sam rawng inthlak danglam, mit rawng inthlak danglam, hriatna lama harsatna, pianpui hriatna hloh