I fa te hian hriatna lama harsatna leh larynx a nei em? Pendred Syndrome chungchang hi i zir dawn teh ang!

I fate chu thawm ri nasa tak avang hian a flinch lo em ni? A nih loh leh a hming lam a nih hian a hawi kir lo em ni? A chang chuan heng thil hnung lamah hian kan ngaihtuah ngai loh genetic condition hmuh tur awm lo tak a awm thei bawk. Chu chu Pendred Syndrome hi a ni. Lungngai suh, vawiinah hian he thu hi awlsam takin, i hriatthiam theih dan tur angin kan sawi dawn a ni.

Pendred Syndrome hi eng nge ni?

A awlsam zawngin, Pendred Syndrome hi genetic condition hmuh tur awm lo tak a ni . Chutiang a nih chuan i naute chu hriatna lama harsatna nei reng rengin a piang thei a ni. He hriatna hloh hian beng pahnih a nghawng fo a, hun kal zelah a na zual thei bawk. Chu bâkah, Pendred Syndrome vei naupang leh puitling tleirawlte chuan goiter , an kawr chhunga thyroid gland lian tak an nei thei bawk. A châng chuan, mahse a tlem hle a, he goiter hian thyroid gland underactive (hypothyroidism) a thlen thei bawk.

I fain he natna hi a nei tih hriat a harsatzia chu han ngaihtuah teh. Mahse a pawimawh ber chu hlauhthawn loh hi a ni . I doctor chuan i fate natna lan chhuah dan chu a theih ang anga enkawl turin a pui ang che. I fate tana tha tur hearing aids te, inbiakpawhna hmanrua te pawh an hrilh bawk ang che. Tichuan hriatna hloh chu i fate ṭawng thiamna leh zirnaah daltu lian tak a ni lo vang.

Pendred syndrome natna lan chhuah dan chu engte nge ni?

Hetiang natna lan chhuahna ber leh langsar ber chu hriatna hloh hi a ni . He hlohna zau zawng hi mi hrang hrangah a inang lo thei. Naupang thenkhat chuan hriatna lama harsatna (bengchheng) na tak atanga nasa tak an nei thei bawk. Entîr nân, naupang hriatna hloh tê tê chuan mi thusawi chu a hre thei a, mahse an thusawi chu a hrethiam lo mai thei.

A tam zawkah chuan he hriatna hloh hi pian tirh lamah a awm a, mahse a chang chuan nausen lai te, naupan lai te, a hnu lamah pawh a lo lang thei a ni.

Pendred syndrome vanga hriatna hloh chhinchhiahnate chu:

• Naute te tak te chuan thawm ri nasa tak a hriat pawhin a flinch lo.
• Naute hian a hminga koh a nih chuan a chhang lo.
• Naute hian kum khat dawn lai a thu hmasa ber a la sawi lo.
• Kum inang naupang dangte aiin thu sawi tlai tan.
• Naupang chuan "chutiang chu sawi leh rawh" tiin a ngen fo che a ni.

Heng hriatna lama harsatna bakah hian chhinchhiahna dang engemaw zat a awm thei bawk:

• Kal laiin balance chungchang - entirnan, kea kal tan nan hun engemaw chen hman. Mahse, hetiang hi mi zawng zawngah a thleng lo va, a tlem hle.
• Goiter - Hei hi naupang a upa deuh lai, chu chu tleirawl lai emaw, puitling naupang lai emaw a ni ber.
• Hypothyroidism - Hei pawh hi thil awm lo tak a ni.

Engvangin nge he Pendred syndrome hi a lo awm?

Pendred syndrome thlentu ber chu `SLC26A4` tih gene-a genetic mutation vang a ni. He gene hian kan taksa hi protein `pendrin` tih siam turin a pui thin. He pendrin hi kan hriatna leh thyroid gland hnathawh dan nen a inzawm tlat a ni. Thyroid gland hian kan taksain chakna a hman dan (metabolism) control tu hormone a siam tih i hria em.

Chuvângin, he pendrin protein-a harsatna a awm chuan, naupang beng chhûnga hriatna nêna inzawm structure-te chu a ṭhang ṭha lo thei a ni . Hei hian sensorineural hearing loss an tih natna a thlen thin a ni . "Sensorineural" tih awmzia chu he hriatna hloh hi a awm reng a, beng chhung ngeia harsatna awm vang a ni. Heng harsatnate hi a hnuaia mi ang hian a ni thei:

• Enlarged Vestibular Aqueducts (EVAs) : I vestibular aqueducts hi ruh nei tube te tak te a ni a, i beng chhung lam leh luruh inzawmkhawm a ni. Vestibular aqueduct lian zawk nei tam tak chuan hriatna hloh an nei thin.
• Cochlea pangngai aia "turn" tlem zawk : Cochlea hi kan auditory system chhungril ber a ni. Coiled structure a ni a, snail groove ang mai a ni. A tlangpuiin turn 2 leh 3/4 a nei thin. Pendred syndrome nei naupang chuan mi pangngai aiin he coil-ah hian turn a nei tlem zawk thei. Hei hi hriatna hloh nen pawh a inzawm tlat a ni.

Tin, ka sawi tawh ang khan pendrin hian thyroid gland hnathawh dan a nghawng bawk. Chuvangin, thyroid gland-ah harsatna a awm chuan a hring (goiter) thei a, hormone a siam tlem thei bawk.

Engtin nge Pendred syndrome hi naupangin a rochun?

Hei hi hriatthiam a harsa deuh mai thei, mahse a awlsam zawngin ka sawi ang. Pendred syndrome vei naupang chuan autosomal recessive pattern in he trait hi a rochun thin a ni . Okay, hei hi a buaithlak deuhin a ri a ni lawm ni? A awlsam zawngin sawi ila, hetiang hi a ni:

Naupangin heng symptoms a lantir theih nan hian he gene mutation copy pahnih – pakhat chu an nu hnen atangin leh pakhat chu an pa hnen atangin an rochun a ngai a ni.

Chutiang a nih chuan nu leh pa pahnih hi mutated gene kengtu an ni. Chu chu an pahnih hian mutated gene pakhat leh normal gene pakhat an nei tihna a ni. Chu gene pangngai avang chuan nu leh pate chuan Pendred syndrome an nei lo. Mahse, fa an neih hunah chuan naupangin he natna hi a neih theihna chance 25% vel a awm a ni. Coin pahnih flipping ang maiin ngaihtuah la, an pahnih hian lu an rawn chhuak ang.

Engtin nge Pendred syndrome hi hriat theih?

Nausen piang tharte hriatna lama harsatna nei leh awm loh enfiahna atana tih turHearing screening hi damdawi inah tih a ni tlangpui. Hearing test-in hriatna a hloh tih a hriat chuan, a natna hriat chian nan test dang neih belh a ngai a ni. Chumi hnuah chauh chuan Pendred syndrome awm leh awm loh enfiah nan test chiang zawk tih a ni. A nih loh leh, i fain hriatna lama harsatna a neih i rinhlelh chuan doctor i pan thei bawk. Hetih lai hian otolaryngologist (ENT) emaw, genetics specialist emaw i hmu mai thei .

Doctor chuan i fa hriatna lama harsatna a neih chungchangah zawhna a zawt ang che. Entîr nân, engtikah nge i hriat hmasak ber tih leh i chhûngkaw zînga tu emaw chuan hriatna lama harsatna an nei tawh em tih te. Pendred syndrome hi thlahtute atanga lo piang a nih avangin i chhungkuaa mi tu emaw pawhin a vei tawh pawh a ni thei.

Hengte hi Pendred syndrome hriat theihna tura puitu test te chu an ni:

• Hearing test : Heng zingah hian Otoacoustic Emissions (OAE) leh Auditory Brainstem Response (ABR) te pawh a tel. Chungte chuan beng chhung lam leh hriatna kawngte hnathawh dan an en a. Naupang a lo upat deuh deuh chuan hriatna hloh chu a danglam em tih hriat nan test tam zawk neih theih a ni.
• Imaging scans : CT scan emaw MRI scan emaw hmangin beng chhungril lama thil awm dan pangngai lo awmte chu an zawng thin. Entirnan, heng scan te hian vestibular aqueducts (EVAs) lian zawk emaw, cochlea pangngai lo emaw a zawng thei a ni.
• Genetic testing : Thisen test hmanga SLC26A4 gene mutation awm leh awm loh enfiah hian a natna hmuhchhuah chu a nemnghet thei a ni.

I fain goiter a neih chuan endocrinologist hnenah thyroid lama harsatna a neih leh neih loh enfiah turin an kal thei bawk.

Pendred syndrome hi engtin nge enkawl a nih?

Dik tak chuan Pendred syndrome hi damdawi a la awm lo . Mahse, a dinhmun enkawl dan tur kawng tam tak a awm . Enkawlna chu thil tam takah a innghat a, chu chu naupang beng chhungrilah hian eng thil danglam nge awm tih leh hriatna hloh nasat dan te hi a ni.

Pendred syndrome enkawl dan tur hrang hrang:

• Zirna leh inbiak dan: Naupang chu hriatna hmang chauh ni lovin, mi dangte nena inbiak dan leh inpawh dan dang zir turin tanpui a ngai a ni. Entîr nân, sign language ang chi thilte.
• Hearing devices : I fa hriatna tha zawka a hriat theih nan hearing aid emaw cochlear implant emaw hman theih a ni.Ni e, a tul mai thei. Heng hmanrua te hian tanpuina nasa tak a pe a, a tlem berah chuan naupang chuan thawm a hre tan thin. Audiologist leh beng, hnar leh beng lam specialist te chuan naupang tana hriatna hmanraw tha ber ber an rawt thin.
• Thyroid enkawlna : I fain thyroid underactive (hypothyroidism) a neih chuan thyroid hormone pill (thyroid supplement) ei a ngai mai thei. Goiter hi a lian hle a nih chuan surgery hmanga lakchhuah a ngai mai thei (thyroidectomy).

Ka fa hian Pendred syndrome a nei a nih chuan eng nge ka beisei ang?

Pendred syndrome -ah chuan hriatna hloh hi a zual zauh zauh (progressive hearing loss) . Naupang thenkhat chuan hun kal zelah an hriatna an hloh vek thei. Mahse, hei hi a nasat dan hi mi tin a inang lo. Naupang tam tak chuan hearing aid emaw cochlear implant emaw hmangin an hriatna pangngai hnaih tak an nei a, an nung tha thei bawk. I fate damdawi lam team chuan i fate hriatna tichak turin enkawlna tha ber berte an hrilh ang che.

A pawimawh ber chu he natna hi hriatchhuah a, a rang thei ang bera enkawl tan hi a ni. Chutiang chuan naupang chuan mi dangte nena inbiak dan a zir thei a, a kum rualpui naupang dangte rualin a hlawhtling thei bawk.

Pendred syndrome hi dam chhung zawnga natna a ni. Amaherawhchu, naupangin midangte a hrethiam thei lo vang emaw, an ngaihdan a sawi chhuak thei dawn lo tihna erawh a ni lo.

Engtin nge ka fa hi ka enkawl ang?

I fain Pendred syndrome a neih chuan naupang dang ang bawkin lu hliam laka venhim a pawimawh . Entirnan, bike khalh laiin helmet bun hian accident-a lu hliam avanga hriatna hloh nghal mai theihna a ti tlem thei a ni. Hetiang thil tenau te hian danglamna nasa tak a thlen thei a ni.

Engtikah nge Doctor ka hmuh ang?

A chhan chu Pendred syndrome nge thil dang tih hi dah bo ila. I fate hriatna lama inthlak danglamna emaw, tlakchhamna emaw i hmuh chuan doctor pan ngei ngei tur a ni. A chhan chu diagnosis i hmuh hma chuan hriatna hloh chu i enkawl thuai thei a, enkawlna i tan thei bawk. Chu chu naupang hmalam hun atan a pawimawh hle.

Ka fa doctor hnenah eng zawhna nge ka zawh ang?

Doctor hmu tura i kal hunah hetiang zawhna zawt turin inpeih rawh:

• Ka fa enkawltu medical team-ah hian tute nge tel ve ang? (e.g. ENT doctor, hriatna lam thiam, geneticist)
• Ka fa hriatna a chhe zual zel tih chhinchhiahna engte nge ni?
• Enkawlna kawng hrang hrangte chu engte nge ni?
• I enkawl dan tur i rawt chu eng nge ni?
• Eng thil dang nge ka fa hriatna tichhe thei? (e.g. thawm ri nasa tak, infiamna thenkhat)
• Naupangte leh nu leh pate’n naupan laia hriatna lama harsatna an tawhte an hmachhawn theih nâna ṭanpui tûrin eng hmanrua nge awm? (e.g., counseling service, tanpuitu pawl) .

Pendred syndrome nei hian naupang chuan a chhehvel nena inzawmna nei tura puitu thawm hriat theihna a hloh thei a ni. Mahse, naupang chuan heng inpawhnate hi chatuan atan a pumpelh tur a ni tihna erawh a ni lo. Hetiang natna nei naupang tam tak tan chuan hriatna hmanrua hi a \angkai hle thei a ni. Kum naupang têa inbiakpawhna thiamna zir hian i fate chu eng ang pawhin an hriatna hloh mah se, mi dangte nena inpawh zâwk tûrin a ṭanpui thei a ni. I fa healthcare team chuan i fa tanpui nan nang leh i chhungte’n hma an lak theih dan tur an sawipui thei ang che. Thinrim rawh, nangmah chauh i ni lo!

Thil pawimawh hriat reng tur (Take-Home Message) .

• Pendred Syndrome hi genetic condition a ni a , a chhan ber chu hriatna hloh a ni a, a chang chuan otitis media a thlen bawk.
• A hmaa hriatchhuah leh enkawl hi a pawimawh hle. Hei hian naupang nunphung nasa takin a tichangtlung thei a ni.
• Damdawi awm lo mah se, enkawl dan tur a awm. Chûng zîngah chuan hriatna hmanrua, thusawi enkawlna, leh a ṭûl chuan thyroid enkawlna te pawh a tel.
• Naupang chu hmangaihna, \anpuina leh fuihna pek hi a pawimawh hle. Damdawi lam thurawn zawm chungin naupang chu nun pangngai leh hlim taka awm turin tanpui ang che.
• I fa chu lu hliam lakah venghim rawh. Hei hian hriatna hloh zual theihna chance a ti tlem ang.

Hemi chungchangah hian zawhna dang i neih chuan i doctor biak pawh hlau suh. I tanpui turin an inpeih reng a ni.

` Pendred syndrome, hriatna lama harsatna, tonsillitis, genetic diseases, naupang hriselna, hriatna hmanrua, thyroid