I fa hian a rualin a mit, beng leh ruhkawrteah harsatna a nei em? Hei hi Stickler Syndrome a ni thei!

A châng chuan kan tê tête chu a hnu pakhatin an damlo ṭhîn a ni lawm ni? Mahse naupang ṭhenkhat chuan inzawmna nei lo anga lang harsatna engemaw zat an nei thut mai thei a, chu chu mit lama harsatna , hriatna lama harsatna, leh ruh natna te hi a ni. Chutiang thil chu nang pawhin i tawng ve tawh em? Tichuan hei hi genetic condition Stickler Syndrome an tih chungchang a ni a, chutiang dinhmun chu a thlen thei a ni. Hei hi thil buaithlak deuh angin lang mahse, a awlsam zawngin sawi ila.

Stickler Syndrome hi eng nge ni? A dik tak chuan...

A awlsam zawngin, Stickler syndrome hi genetic condition a ni . Kan genes inthlak danglam vang a ni. Kan taksa chhunga connective tissue te a nghawng ber a ni. He connective tissue hi tissue chi khat bik a ni a, kan taksa peng dang, organ leh tissue te inzawmkhawm, thlawptu leh pianphung pe theitu a ni. Kan in bang leh inchungte vawn tlat nan cement leh wire hman ang maiin han ngaihtuah teh. He connective tissue hi kan taksa tan pawh a pawimawh hle.

Chuvangin, he Stickler syndrome-ah hian hmai, beng, mit leh ruhkawr ang chi hmuna connective tissue te hi a nghawng nasa ber a ni. Chuvang chuan naupang thenkhat chuan hmaiah danglamna engemaw zat an nei thei a, chu chu an hmui (cleft palate) te hi a ni. Mit , hriatna, leh chetna lamah pawh harsatna a awm thei bawk. Hei hi Stickler dysplasia an ti \hin.

Hetiang dinhmun hi engtiang chiahin nge a awm? Tuin nge a neih theih ber?

Stickler syndrome hian nau piang thar 7,500 atanga 10,000 zinga pakhat atanga pathum vel a vei nia chhut a ni. Mahse, he natna hi hriat chian loh a nih fo avangin, mi engzat nge he natna vei tak tak tih hi sawi chian a harsa hle.

Tuin nge vei tih chungchangah chuan tu pawhin Stickler syndrome an vei thei. Mahse, chhungkuaa mi tu emaw, chu chu nu emaw, pa emaw, unau emaw pawhin he natna hi a neih chuan midangte pawhin an vei theihna a sang zawk. Mahse, a chang chuan chhungkaw history nei lovin he natna hi genes random change (` genetic mutation`) vang pawh a awm thei bawk. Chu chu rochun thil a nih a ngai lo tihna a ni.

Stickler Syndrome hian engtin nge taksa a nghawng?

Kan sawi tawh ang khan he natna hian connective tissue a nghawng a ni. Kan taksaa connective tissue hnathawh ber pakhat chu tissue leh organ dangte venhim leh thlawp hi a ni. Chuvangin, he connective tissue siamtu gene-ah hian mutation, a nih loh leh defect a awm chuan, chu gene chuan he connective tissue siam dan tur leh a hnathawh dan tur chungchangah hian thupek dik tak a hmu lo.

Hei vang hian Stickler syndrome vei tan chuan .Mit hmuhna, hriatna leh ruhkawr chetna a nghawng a ni. Mit, beng leh ruhkawr te hi a nghawng bik hle. Stickler syndrome vei te hian naupan laiin arthritis an vei fo thin . Mahse, enkawlna dik tak a awm chuan a natna lan chhuah dan chu control theih a ni a, he natna vei te hian nun pangngai, active takin an hmang thei a ni .

Hei hi eng symptoms nge ni? Engtin nge kan hriat theih ang?

Stickler syndrome symptoms hi mi hrang hrangah a inang lo thei . Mi zawng zawng hian symptom zawng zawng an nei vek dawn lo. Chu chu a danglam bikna chu a ni. Entîr nân, naupang pakhatin mit lama harsatna a nei tam zâwk thei a, naupang dangin ruh natna a nei tam zâwk thei bawk.

Symptoms chi hrang hrang hmuh tur a awm a, chungte chu:

Ruh leh ruh natna: 1.1.

• A tir lamah chuan ruhte hi a inthlak danglam lutuk thei a , mahse hun kal zelah chuan a nghet tan thei a ni .
• Spine curvature, a nih loh leh scoliosis a awm thei.
• Arthritis hi kum naupan lai atanga lo awm thei a ni. Naupang kum sawm pawh la ni lo, zingkar a tho a, an ruh natna a phunnawi a nih chuan i ngaihtuah tur a ni tih han ngaihtuah teh.

Hriatna leh beng nena inzawm harsatna:

• Hriatna hloh hi degree hrang hrangin a awm thei. Mi thenkhat chuan bengchheng tlemte chauh an nei thei a, thenkhat erawh chuan bengchheng tak tak an nei thei thung.

Mit lama harsatna nei:

• Severe nearsightedness (or myopia) tih awmzia chu thil hnai tak tak chauh chiang taka hmuh theih a ni a, thil hla tak tak erawh chu a fiah lo tihna a ni.
• Retina chu a inthen a. Hei hi a thleng thut thei a, enkawl vat a ngai a ni.
• Mitdel (cataract) a awm .
• Mit a pressure a sang a, chu chu glaucoma an ti.

Hmaiah hian thil danglam bik hmuh tur a awm:

Vawi tam tak chu hetiang natna vei naupangte hmel pianzia pawh hi an thanlennaah a nghawng thei bawk.

• Cleft palate : Chumi awmzia chu hmui chung lamah gap a awm tihna a ni.
• A tlangpuiin lower jaw te tak te leh recessed (`micrognathia`) : Hei hi `Pierre Robin sequence` an ti \hin. Hei hian naupang thenkhat chu thawk harsa leh ei harsa a ti thei a ni.
• Hmai chu a flat a, hnar a te bawk.

A lan chhuah dan dangte:

Hei bakah hian symptom dang pawh hmuh tur a awm thei:

• Thâwk harsa (a bik takin naupang micrognathia vei te).
• Nausen piang tharte chaw pek harsatna.
• Mit leh hriatna lama harsatna avanga zirlai harsatna.

Pawimawh: Mi zawng zawng hian heng symptoms zawng zawng hi an nei vek dawn lo. I fain heng symptoms pakhat emaw pahnih emaw a neih chuan lungngai suh, mahse eng emaw zat i hmuh dun chuan doctor thurawn lak a tha ber.

Stickler Syndrome hi chi hrang hrang a awm em?

Ni e, Stickler syndrome chi hrang hrang paruk hmuhchhuah a ni. Heng chi hrang hrang azirin a natna lanchhuahna nasat dan leh a nihna hi a inang lo.

• Type I: Hei hi type hman tlanglawn ber a ni . Hriatna hloh na lo leh mit hmuhna hnai tak hi a lan chhuahna ber a ni.
• Type II: Hei hi hriatna hloh leh mit hmuhna hnai zawkin a nghawng nasa zawk.
• Type III: Hriatna lama harsatna leh ruhkawr harsatna te hi a lan chhuah dan ber a ni. Vision symptoms hi a awm lo tlangpui .
• Type IV, V, leh VI: Heng chi hi a tlem hle . Mit leh hriatna lama harsatna nasa tak an nei thei a ni. Tin, symptoms complex zawk an nei thei bawk a, chu chu ruh sei tawp lian (spondyloepiphyseal dysplasia) leh arthritis te hi a ni.

Doctor-te chuan mi pakhat chu eng chi nge a nih tih chu a natna lan chhuah dan leh a test dan a zirin an rel thin.

Hei hi eng nge a chhan? Genetic influence chu eng nge ni?

Stickler syndrome thlentu ber chu genetic mutation vang a ni . He mutation hi kan taksain protein bik collagen an tih siam tura hrilhtu gene paruk zinga eng pawhah a thleng thei a ni . Collagen hi kan connective tissue te chu an flexibility leh chakna petu ber a ni. Rubber band angin ngaihtuah la, chu chuan elasticity leh chakna a pe a ni.

Chuvangin, heng genes-ah hian chhiatna a awm chuan collagen protein hi a siam tha lo hle. Hei hian kan cartilage siamtu collagen leh kan mit chhunga jelly ang chi thil awmte a nghawng ber a ni. Heng gene zingah hian `(COL2A1)`, `(COL11A1)`, `(COL11A2)` te ang chi genes te hi a langsar ber a ni.

Naupangin heng mutated genes zinga pakhat a rochun chuan Stickler syndrome symptoms a lantir thei a ni.

Engtin nge heng genes te hi rochun an nih?

Hei hi rochun a nih dan tlangpui pahnih a awm a:

• Autosomal dominant form chu: 1.1.Hei hi a tam ber chi (a bik takin type I, II, leh III) a ni. Heta thil thleng chu nu leh pa pakhatin gene mutation nei mah se , naupangin a rochun theihna chance 50% a awm a ni.
• Autosomal recessive: Hei hi a tlem zawk (type IV, V, leh VI-ah te hmuh theih a ni). Hetah hian nu leh pa pahnih hi carrier hrisel tak an ni tur a ni . Chu chu symptoms nei lo mahse mutated gene an nei tihna a ni. Chutiang a nih chuan naupangin a rochun theihna chance 25% a awm.

A châng chuan, genetic mutation thar (`de novo mutation`) chu randomly , chhungkaw history nei lovin a thleng thei bawk . Heng thilte hi sawi lawk a har khawp mai.

Engtin nge doctor-te hian hei hi an hriat chian?

Doctor chuan Stickler syndrome a hriat theih nan step engemaw zat a zawm a.

• Chhungkaw damdawi lam chanchin kimchang leh taksa enfiahna: A hmasain, nang leh i fa chu in natna lan chhuah dan leh in chhungkuaa tu emaw pawhin hetiang dinhmun hi an nei tawh em tih zawh a ni ang. Tichuan, i fa chu a hmai, a beng, a mit leh a ruhteah thil bik a awm em tih enfiah a ni ang.
• Vision leh hearing test: Heng test te hi specialist doctor ten an tih thin a, mit leh hriatna level tehna atan an hmang thin.
• Imaging test: A châng chuan ruh leh ruhkawr-a thil dik lo awm leh awm loh enfiah nân X-ray ang chi test pawh tih theih a ni.
• Genetic testing: Hei hi test ber a ni a, chu chuan definitive diagnosis a siam thei a ni. Thisen sample emaw tissue sample emaw lak a ni a, Stickler syndrome thlentu genetic mutations a awm leh awm loh enfiah a ni.

Hei hi nausen pian hmain hriatchhuah theih a ni em?

Ni e, a châng chuan nausen piang hmaa genetic testing hmangin naute gene-a thil danglam emaw, mutation emaw a awm tih hriat theih a ni. Mahse, naute pian hnuah, taksa enfiahna kimchang leh test tul dangte tih a nih hnuah a natna lan chhuah dan finfiah a nih hnuah definitive diagnosis tih a ni tlangpui.

Stickler Syndrome hi eng enkawlna nge ni?

Hei hi mi tam takin harsatna an neih a ni. Tunah hian Stickler syndrome hi damdawi a la awm lo . Mahse, lungngai suh. A natna lan chhuah dan control leh a nghawng tihziaawmna tur enkawlna tha tak tak a awm nual . A hmaa hriatchhuah leh enkawl hi a pawimawh ber a ni. A bik takin detached retina emaw joint problem emaw a awm chuan a hmaa enkawl hian chhiatna lian tham a veng thei a ni.

Enkawl dan hi a lan chhuah dan azirin a inang lo. Enkawl dan tlangpui thenkhat chu hetiang hi a ni:

• Mit hmuhna tichangtlung rawhMitmeng emaw contact lens emaw pek.
• Hriatna tihchangtlun nan hearing aid pek.
• Ruh natna tihziaawmna tur damdawi pek .
• Ha-ah hian a hrual emaw, a inmil lo emaw a awm chuan orthodontic treatment hmangin siamthat theih a ni.
• Physical therapy ( special exercise ang chi) hmanga ruh tichaktu leh mobility tihchangtlun nan.
• Inzai:
• Retina inthen tawh (retinal reattachment surgery) atanga inzawm lehna (retinal reattachment surgery).
• Cleft palate siamthatna tur.
• Thâwk a nasat chuan thawk awlsam zawk nan a kawngah tube te tak te dah theih a ni (tracheostomy pawh a ni thei).
• Joint chhia siamthat emaw thlak emaw.

He enkawlna hmang hian Stickler syndrome vei naupang leh puitlingte chuan nun pangngai, famkim, leh active taka nunpui turin tanpuina nasa tak an dawng a ni .

Hetiang dinhmun hi ven theih a ni em?

Stickler syndrome hi genetic condition a nih avangin ven theih a ni lo . Mahse, i chhungkuaa mi tu emaw chuan he natna hi a nei a, fa neih i tum a nih chuan, genetic counseling leh genetic testing hian i fain he natna hi a rochun theihna tur a hriatthiam theih nan a pui thei che a ni.

Stickler Syndrome natna vei lai hian eng nge i beisei theih ang?

He natna hi damdawi awm lo mah se, mi dam rei zawng a nghawng lo . Chu chu he natna vei te hi midang ang bawkin dam chhung pangngaiin an hmang tihna a ni. Damdawi lam enkawlna mumal tak, enkawlna tul tak tak, leh puihna an neih chuan mi tam tak chu nun chak tak leh hlim takin an nung a ni.

A pawimawh ber chu nausen emaw naupan lai emawa natna hi hriatchhuah a ni . Tichuan, symptoms te chu rang taka enkawl theih a ni a, nakin lawka harsatna lo awm thei te pawh ven theih a ni bawk.

A chang chuan enkawl hnuah pawh symptoms a lo lang leh thei. Entirnan, detached retina lakchhuah nan operation i neih pawhin, chu natna chu a lo lang leh thei a ni. Chuvangin, medical check-up neih fo a, i symptoms te ngaihven a pawimawh hle .

Nitin hnathawhnaah nghawng a nei em?

Hei hi mi hrang hrangah a inang lo a, a lan chhuah dan azirin a inang lo. Mi thenkhat chuan nghawng lian tham an nei lo mai thei a, thenkhat erawh chuan tihkhawtlai engemaw zat nen an nun a ngai mai thei bawk. A bik takin, doctor-te chuan contact sports , rugby leh football ang chite chu pumpelh turin an fuih a, chutiang infiamnaah chuan retinal detachment hlauhawmna a sang zawk a ni.

Engtikah nge doctor i hmuh ang?

Nangmah emaw i fa emaw hian Stickler syndrome nena inzawm nia i ngaih symptoms i neih a, i nitin hnathawhna hmuna i hnathawh theih lohna khawpa nghawng a neih chuan doctor pan ngei ngei tur a ni.

• I ruh natna nasa tak i neih chuan .
• I mit hmuhna a danglam nghal a nih chuan (entir nan, mit hmuhna fiah lo, i mit hmaa êng eng chhuak hmuh, i mit hmaa dot dum emaw net emaw a lo inher chhuah hmuh emaw, i mit hmuhna hmun ṭhenkhata thlalak ang maia i hriat emaw chuan - hengte hi retina inthlak danglam chhinchhiahna a ni thei).
• Ei leh in ei harsa i tih chuan.
• Surgery an tihna hmun chu thisen chhuak, a hring, emaw, yellow discharge a awm chuan (hei hian infection a kawk thei).

Extremely important: Nangmah emaw i fa emaw hian thawk harsatna i neih chuan , emergency a ni. Damdawi in hnai ber pan nghal la, a nih loh leh 1990 ah call rawh.

Doctor hnena zawh tur pawimawhte chu engte nge ni?

Nangmah emaw i fa emaw hian Stickler syndrome i nei tih i hriat hnuah doctor hnenah hetiang zawhna hi i zawt thei ang:

• Hetiang dinhmun hi Stickler Syndrome an tih hi engtiang chiahin nge a nasat?
• Hei hi eng nge a chhan?
• Hei hian engtin nge ka fa nitin nun a nghawng ang?
• Eng harsatna nge ka ngaihtuah bik tur? An symptoms te chu engte nge ni?

Heng zawhnate bakah hian i thil ngaihtuah apiang, i hlauhthawnna leh rinhlelhna i neih apiang chu i doctor nen sawiho rawh.

A tawp berah chuan thu pawimawh ber ber (Take-Home Message) .

Stickler syndrome hi hriat a hlauhawm deuh thei. Mahse, hengte hi hre reng ang che:

• Hei hi genetic condition , i ngaihsak lohna avanga lo awm a ni lo.
• Because it mainly affects connective tissue , mit, beng, ruh leh hmaiah inthlak danglamna a thlen thei.
• Mi hrang hrangah symptoms a inang lo thei hle .
• Damdawi famkim awm lo mah se, natna lan chhuah dan tihtlem leh nun ṭha zawk neih theihna tura enkawlna tam tak a awm a ni .
• Hriatchhuah hmasak leh enkawl tan hi hlawhtlinna hlawhtling tak neih theihna kawng tha ber a ni.
• I chhungkuaa mi tu emaw chuan he natna hi a neih chuan genetic counseling lak a pawimawh .

Hlauthawng lo leh damdawi lam thurawn dik tak zawm hian Stickler syndrome vei chuan midang ang bawkin nun tha tak neih theihna tur kawng a siam thei a ni. Zawhna dang i neih chuan doctor biak hreh suh.

` Stickler syndrome, genetic diseases, connective tissue, collagen, mitdelna, hriatna lama harsatna, ruh natna, naupang hriselna