I naute hian heng symptoms te hi a nei em? CHARGE Syndrome chungchang hi i zir chiang ang u.

Nu leh pa te u, in fate hriselna hi in ngaihtuah fo lo em ni? A châng chuan naute nena lo awm natna tenau ber pawh hi a hlauhawm thei hle. Vawiin hian condition pakhat, tlem a awm lo, mahse hriat a pawimawh hle kan sawi dawn a ni. Hei hi CHARGE Syndrome an ti a . Hei hi i tan thil thar a ni mai thei, mahse lungngai suh. A awlsam zawngin leh i hriatthiam theih tur angin i sawi ang u.

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

CHARGE syndrome hi genetic condition awm lo tak a ni a . I fa taksa peng engemaw zat a nghawng thei a ni. Ngaihtuah teh, mit, nervous system, thinlung, hnar kawng, serh leh beng te hi a nghawng ber a ni. Hetiang natna vei naupangte hian hmêl danglam tak leh natna lan chhuah dân inzawmkhawm an nei thei a ni. Doctor-te chuan heng zawng zawng hi a zirin a natna hi an enfiah thin.

A pawimawh ber chu CHARGE syndrome nei naupang zawng zawng hi an inang vek lo. A natna lan chhuah dan leh a nihna chu naupang hrang hrangah a inang lo thei. Thil danglam thenkhat chu nausen pum chhungah a intan thei a, chu natna chuan naupang chu kawng hrang hrangin a nghawng thei a, kum tam tak chhung a nghawng thei bawk.

Tute nge CHARGE syndrome nei thei?

Hei hi genetic condition a ni a, tu pawh a nghawng thei a ni. A tam zawkah chuan, genetic mutation thar avanga lo awm a ni . Chumi awmzia chu chhungkaw zingah tumahin an la nei lo tihna a ni. A châng chuan, naupang hian nau pai lai hian nu leh pa pakhat aṭangin he mutated gene hi a rochun thei a ni. He genetic mutation hi random takin a thleng thin. Chuvangin, naupai hma emaw, naupai lai emaw pawhin he natna hi nu leh pate laka tih theih a awm lo.

Hetiang dinhmun hi engtiang chiahin nge a awm?

CHARGE syndrome hi a awm lo hle a ni . Khawvel pumah nau piang thar 8,500 atanga 10,000 zinga pakhat chauh hi he natna hian a vei nia chhut a ni.

Engtin nge CHARGE syndrome hian ka fa taksa a nghawng?

Hetiang dinhmun thlentu gene hi a inthlak danglam chuan kan cell te hian an thanlenna leh an hnathawh that theihna tura an mamawh thupek an hmu lo. Chuvang chuan taksa peng tam tak a nghawng a ni. A lan chhuah dan chu a châng chuan a na lo thei hle a, mahse a châng chuan a na hle thei a, nunna atân pawh a hlauhawm thei bawk . Hei hi nausen pum chhunga a lo seilian lai hian a thinlung leh a chhungril lam a lo thang tha lo a nih chuan a dik hle.

I doctor chuan i naute pian hma pawhin a than dan chu uluk takin a enfiah ang. Hei hi i naute lo thlen hun atana inbuatsaihna tur leh nunna atana hlauhawm harsatna awm lo tura enkawl nghal dan tur ruahmanna siamna tur a ni. Hei hi natna lan chhuah danin thinlung, thawk, ei leh in ang chi thil a nghawng chuan a pawimawh hle.

CHARGE syndrome natna lan chhuah dan chu engte nge ni?

CHARGE tih hminga letter awmte hian he natna lan chhuah dan tlangpui thenkhat chu i hriat reng theih nan a pui thei che a ni.

• C - Coloboma leh cranial nerve dik lo: 1.1.
• Mit chhunga tissue thenkhat hloh. Hei hi iris-a cut te tak te ang mai a ni thei.
• Balance leh coordination lama harsatna awm.
• Hmai sir khata paralysis.
• Hriak hriatna tlahniam.
• H - Lung lam chhiatna: 1.1.
• Pian tirh atanga lo awm thin thinlung natna (congenital). Entirnan, Fallot tetralogy , ventricular septal defect , atrioventricular canal defect, leh/ emaw aortic arch abnormalities ang chi dinhmun te.
• A - Atresia chu choanae-ah a awm a:
• Hnar kawng a tawi emaw, a block vek emaw chuan thawk harsatna a thlen thei a, sleep apnea a thlen thei bawk.
• R - Hmasawn leh hmasawnna khap: 1.1.
• Naupang chuan a kum nena inmil taka a san leh rit zawng a thlen theih nan hun dang a mamawh belh a ni.
• Kum nena inmil hmasawnna milestone thleng tur chuan hun tam zawk a ngai bawk.
• G - Mipat hmeichhiatna lama thil dik lo awm: 1.1.
• Mipa naupangah chuan penis hi a te (micropenis) leh/ emaw, testicles a tlahniam lo (cryptorchidism) .
• E - Beng dik lo: 1.1.
• Thil danglam tak tak, beng chhuak leh beng zungbun awm lo te.
• Hriatna lama harsatna, bengchheng pawh a ni thei.

Pian tirh lamah hian symptom tam tak hmuh theih ni mah se, a chang chuan nakin lawkah, a hnua symptoms a lan hunah hriat theih a ni.

Symptom dangte chu engte nge ni?

Heng symptom lian ber berte bakah hian symptom dangte chu:

• Ei leh in ei harsa.
• Thiamna lama hmasawnna lama harsatna awmte.
• Cleft hmui emaw, cleft palate emaw.
• Muscle chak lohna (Hypotonia).
• Kidney abnormalities: kidney-a tui tam lutuk (hydronephrosis) , kidney-a zun lut leh emaw, kidney te emaw, awm lo emaw.
• Esophagus atanga pum chhunga kalna kawng dik lo (esophageal atresia) .
• Lungkhamna emaw, lungkhamna emaw.
• Scoliosis natna a ni .

Hmaiah thil danglam bik hmuh tur a awm

CHARGE syndrome nei naupangte hian hmai lam thil engemaw zat an nei thei bawk:

• A hmai chu square ang maia siam a ni.
• A hmai zau tak.
• Mitmeng a curled a.
• Mit lian tak tak.
• Mitmeng a tla thla.
• A hmui leh hmui te tak te.
• Hmel asymmetrical tak a ni.

Eng thilin nge CHARGE syndrome hi a thlen?

Hei hi gene `CHD7`-a genetic mutation avanga lo awm a nih a rinawm ber.. He `CHD7` gene hian kan cell te chu kan DNA chu chromosomes-a package tu protein siam turin a hrilh a ni. Thilpek wrapping ang maiin. He DNA packaged hian a size leh shape (remodeling) a thlak thei a, chu chu chromosome tin mamawh angin tight emaw loose takin emaw pack theih a ni tihna a ni.

CHARGE syndrome neiah chuan `CHD7` gene hian protein a siam tha lo hle. Tichuan DNA molecule te chu thupek angin an package thei lo. Chuvang chuan heng symptoms te hi a lo lang ta a ni.

A tlem hle a, CHARGE syndrome vei thenkhat chuan `CHD7` gene-ah mutation an nei lo. A nih loh leh an DNA-ah gene dang mutation an nei thei bawk. Heng a chhan awm lo tak takte hi zirchian mek a ni. Chutiang hunah chuan Genetic counselling hi a pawimawh hle.

CHARGE syndrome hi rochun theih a ni em?

Ni e, hei hi rochun theih dinhmun a ni. Miin nau a pai laiin mutated CHD7 gene copy khat a rochun chuan a symptoms a awm thei a ni. Hei hi autosomal dominant transmission an ti a. Mahse, a tam zawkah chuan heng genetic changes te hi de novo mutations angin a thleng thin. Chumi awmzia chu chhungkaw zingah tumahin he natna hi an la nei lo tihna a ni. Nu leh pa pakhatin fa pahnih CHARGE syndrome nei emaw, CHARGE syndrome nei emaw chuan he natna nei fa neih theihna chance 50% a nei a ni.

Engtin nge CHARGE syndrome hi hmuhchhuah a nih?

I fa doctor chuan i fa chu taksa lamah a enfiah hmasa ang a, he natna lan chhuahna bulpui berte chu a enfiah ang. Diagnosis finfiah nan doctor chuan genetic test a ti ang . Hei hian thisen sample tlemte lak a, CHD7 gene inthlak danglamna zawng a huam a ni.

I fa natna lan chhuah dan chu nunna atana hlauhawm a nih loh nan thisen, zun emaw, imaging test dang i neih belh a ngai mai thei. Hengte hi i fa chhungril lam hriselna endikna atana tih a ni. Heng test te hi naupang hrang hrangah a inang lo ang a, an natna lan chhuah dan azirin a inang lo ang. I fa chu a hrisel tih chian nan test dang tih belh ngai awm thei chu i doctor nen sawiho rawh.

CHARGE syndrome hi engtin nge enkawl a nih?

CHARGE syndrome enkawl dan hi naupang hrang hrangah a inang lo. A ngaih pawimawh ber chu naupang natna lanchhuahna tihziaawm hi a ni. Enkawlna kawng hrang hrangte chu:

• Cleft lip or palate, thinlung natna, choanal atresia ang chi natna hrang hrang tan surgery neih a ni.
• I fate ei leh in dan dik zirtir tur leh thusawi leh tawng lama harsatnate hneh turin occupational therapy, physical therapy, emaw speech therapy- a tel.
• Naupangin a ei theih nan an ei theih nan feeding tube dah luh.
• Thâwk lama harsatna emaw, mut lama thawk hahdam lohna emawa ṭanpui nan ventilator emaw CPAP machine emaw hman.
• Hriatna lama harsatna nei tanHearing aid emaw cochlear implant emaw hmanga tih theih.
• Thiamna lama hmasawnna tihpunna tur special education atana referral.
• Symptom bik nei tan damdawi pek.

Hetiang dinhmun hlawhtling taka enkawl tur leh rilru lama puihna pe thei tur chuan care coordinator hi a pawimawh ber a ni. I healthcare provider hnenah thu belhchian dawl zawk zawt rawh.

CHARGE syndrome nei ka fa hi engtin nge ka enkawl ang?

CHARGE syndrome nei naupang chu a thanlen leh a thanlen theih nan hun pek belh a ngai mai thei. Kum nena inmil thil pawimawh tak takah chuan an hnufual deuh mai thei a, chu chu thlawpna tel lova thut leh inbiakna ang chi hi a ni. I fate dam kum hmasa berah hian i fate hmasawnna tur thil pawimawh tak takte chu ngun takin en reng ang che. I fain milestone a neih loh chuan i doctor hnenah hrilh rawh. I doctor chuan i fate hmasawnna chu clinic-ah a enfiah ang a, kum tam tak chhunga an hmasawnna chu a enfiah ang. I fa chu a lo thang lian zel a, a natna hmuhchhuah avanga side effects awm thei tur a nih loh nan checkup leh test neih fo thin ang che.

CHARGE syndrome hi ven theih a ni em?

Ni lo, CHARGE syndrome hi genetic condition a ni a, ven theih a ni lo . A thlentu gene mutation hi random takin a thleng fo a, chhungkaw zingah hian tumahin he natna hi an lo nei tawh lo. Chuvang chuan hriat lawk a har khawp mai.

CHARGE syndrome nei tan eng nge i beisei theih ang?

Naute hian he natna hi a vei tih hriat hmasak ber a nih chuan doctor chuan naute thinlung leh chhungril peng hrang hrangte chu a thawk tha em tih leh nunna atana hlauhawm symptoms a awm em tih test a nei ang. Hmasawnna lama harsatna awm thei, a bik takin thinlung tichhe thei thil a awm chuan, chu chu siamthat nan operation neih a ngai mai thei. Nau piang thar tam tak chuan ei leh in kawngah tanpuina an mamawh a ni. Chuvangin, doctor chuan naute pum chhungah chaw pekna tube a dah thei a, chu chuan anmahni chauha an ei theih hma loh chuan an dam khawchhuahna atana an mamawh ei tur a pe thei a ni. I naute hriselna mamawh phuhruk nan enkawlna leh puihna dang tam tak a awm bawk.

CHARGE syndrome hi damdawi kimchang a la awm lo.

CHARGE syndrome vei dam rei zawng chu engzat nge ni ang?

CHARGE syndrome vei nausen piang thar dam rei zawng hi an natna lan chhuah dan nasat dan azirin a inang lo. Nausen natna lanchhuahna na tak nei te chu an dam chhung kum nga chhungin an thihpui tam zawk a ni. Mahse, naupang symptoms na lo tak tak nei te chuan dam chhung zawnga supportive care hmangin nun pangngai an hmang thei a ni.

I fa chu CHARGE syndrome a vei tih hmuhchhuah a nih chuan i doctor nen an symptoms leh dam rei zawng chungchang sawi la, nun hlim leh hrisel tak an neih theih nan.

Engtikah nge ka fa doctor ka hmuh ang?

I fain a hnuaia mite hi a neih chuan doctor pan rawh:

• Surgery na hmunah infection a awm chuan.
• Kum nena inmil hmasawnna milestone a thlen loh chuan.
• Ei leh in theih loh chuan.
• Hriatna leh mit lama harsatna i neih chuan.
• I ei harsat chuan.

I fain thaw a harsat a, a taksa rawng a danglam a, ei leh in lama harsatna nasa tak a nei a, a heart rate a danglam a nih chuan damdawi in pan nghal mai tur a ni.

Doctor hnenah eng zawhna nge ka zawh ang?

• Ka fa natna lan chhuah dan hi engtiang chiahin nge a nasat?
• Ka fa dam rei zawng chu engzat nge ni ang?
• Ka fa hian operation a mamawh em?
• Damdawi an pek che hian side effect a nei em?

I nau piang thar hian genetic condition hmuh tur awm lo tak a nei tih i hriat chuan i rilru a buai tih hi thil pangngai a ni. Nu leh pa leh enkawltu thenkhat chuan genetic counselling hi an fate natna hmuhchhuah dan leh an fate nun tha zawk an neih theih dan tur hriat belh theihna kawng tha tak niin an ngai. I fate natna lan chhuah dan leh an kum anga an hmasawnna tur thil pawimawh tak tak an tlin leh tlin loh chu clinic-ah record la. I fa hriselna chungchanga zawhna emaw, harsatna emaw i neih chuan i doctor hnenah zawhfiah rawh.

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

CHARGE syndrome hi natna khirh tak ni mah se, a hmaa hriat chhuah te, damdawi lam enkawlna dik tak te, leh hmangaihna nena enkawl te hian naupang chu nun tha ber a neih theih nan a pui thei a ni.

• Naupang tin hi an danglam vek: Nausen natna lan chhuah dan leh a nasat dan hi naupang pakhatah a inang lo. Chuvangin midang nen tehkhin suh.
• Multidisciplinary team support: He natna enkawl nan hian specialist, therapist leh support service hrang hrang a ngai a ni.
• Dawhtheihna leh hriatthiamna: I fate chu an hmasawnna atan hun tam zawk leh puihna pe rawh.
• Nangmah chauh i ni lo: hetiang naupang nei chhungkaw dangte nen inzawm la, support group-ah tel ve rawh. Chakna nasa tak a pe ang che.
• I doctor thupek zawm rawh: Appointment leh test ruat sate chu bawhchhiat suh. Harsatna i neih chuan doctor nen inbia ang che.

I fain hetiang dinhmun hi nei mah se, i hmangaihna, i thlawpna leh i kaihhruaina dik chuan an nunah danglamna nasa tak a thlen thei tih hre reng ang che.

` CHARGE syndrome, genetic diseases, naupan lai natna, hmasawnna tlai, thinlung lama harsatna, hriatna lama harsatna, coloboma