I naute hian a rualin natna tam tak a nei em? DiGeorge Syndrome chungchang hi han sawi ila

I fa te hian hriselna lama harsatna pakhat aia tam a nei em? Lung lam harsatna, natna tam tak, emaw, hmasawnna tlai lutuk emaw i hmu tawh mai thei. Chûng buaina inzawm lo anga lang tam tak chuan chhan pakhat chauh a nei thei a ni. Chu chu vawiin a kan sawi tur genetic condition pakhat a ni. DiGeorge Syndrome tih a ni.

A awlsam zawngin, DiGeorge Syndrome hi eng nge ni?

Hei hi genetic disease a ni a . Kan taksa hi cell atanga siam a ni. Cell tin hian chromosome an tih thil an nei vek a. Hengte hi kan taksaa thil awm zawng zawng siam dan ziakna lehkhabu lian tak angin ngaihtuah rawh. Chuvangin, he dinhmun hi he lehkhabu chromosome 22 tia koh, phek khat ang chi, a tlem berah a awm loh chuan a thleng thin. A dik tak chuan hei hi 22q11.2 deletion syndrome an ti bawk. Chumi awmzia chu chromosome 22-a kut sei tak ‘q’ an tih-a 11.2 an tih chu a bo tihna a ni.

He gene te tak te hi a bo chuan naupang taksa peng engemaw zat thanlenna leh hnathawh dan a nghawng a ni. Naupang thenkhat chu an tuar tlem hle a, thenkhat erawh chu tlemin a tuar nasa zawk mai thei. Naupang hrang hrangah a inang lo. Hei hi damdawi famkim awm lo mah se, a natna lan chhuah dan kan thunun thei a, naupang chu nun tha tak nei turin kan pui thei a ni.

Hetiang dinhmunah hian eng symptoms nge hmuh theih?

Hetiang natna nei naupang zawng zawng hi an inang vek lo. Naupang thenkhat chuan symptom engmah an lantir lo thei. Mi dangte chuan taksa peng engemaw zat nghawng thei symptom an nei thei bawk. Harsatna lian ber ber kan hmuhte hi han thlir ila.

Engvangin nge naupang chungah hetiang hian a thlen? Eng nge a chhan?

Kan sawi tawh ang khan hei hi chromosome 22 te tak te hloh avanga lo awm a ni a, hei hi chhan lian tak pahnih a awm a.

1. Random event: Hei hi a tam ber (10 zinga 9) . Nau pai a nih chuan, chu chu nu egg leh a pa sperm inzawm hmasak ber a nih chuan he chromosome piece hi accident-in a bo thei a ni. Hei hi random taka thleng thin a ni.

2. Nu leh pa atanga rochun: A tlem hle (10 zinga 1 vel) .Naupang chuan he natna hi a nei nu emaw pa emaw aṭangin a rochun thei a ni. ``Autosomal dominant`` angin a rochun a ni. Chumi awmzia chu nu leh pa zinga pakhatin he natna hi nei mah se, naupangin a vei a rinawm tihna a ni.

Doctor-te hian engtin nge hei hi an hmuh?

A châng chuan nau neih hmaa test hian a dinhmun chungchâng hriat theihna a pe thei bawk. Entirnan, nau neih hmaa ultrasound emaw, amniocentesis ang chi test bik emaw hmangin hmuhchhuah theih a ni.

Mahse, a tam zawkah chuan hei hi naute pian hnuah chauh hriat theih a ni. Doctor-in naute a enfiah hian naute hmai leh beng lama thil danglam bikte a hmuh avangin chu chu a ringhlel thei a ni. Tichuan, rinhlelhna chu finfiah nan test eng emaw zat an nei leh thin.

Hei hi test a ni

• Echocardiogram: Thinlung hnathawh dan leh a insiam dan enfiahna scan.
• Thisen test: Chung zingah chuan thisen a calcium level endik te, complete blood count (CBC) tih te, white blood cell count te enfiah te a tel.
• Chest X-ray: Thymus gland lian leh te enfiah thin ang che.
• Kidney ultrasound hmanga tih a ni
• Immunity nena inzawm test bik: Entirnan, `Immunophenotyping` leh `Flow cytometry` te.
• Genetic testing: Hei hian chromosome 22 piece pakhat a bo leh bo loh chiang taka a nemnghet a ni.

Hei hi engtin nge enkawl a nih?

Hetiang dinhmun thlentu genetic defect hi tihbo theih a ni lo. Mahse, a natna lan chhuah dan leh harsatna lo awmte chu hlawhtling takin enkawl theih a ni . Hei hi doctor pakhat chauh tih theih thil a ni lo. Naupang enkawlna kawngah hian kawng hrang hranga specialist team te chuan an thawk ho thin a ni.

Naupang natna lan chhuah dan azirin enkawl dan a inang lo.

• Hri kai fo tan antibiotics pek thin a ni.
• Thisen calcium level a hniam chuan , calcium supplement pek thin a ni.
• Hriatna lama harsatna nei hi beng tube emaw, hriatna hmanrua emaw hmanga enkawl a ni.
• Speech, physical leh occupational therapy hian thusawi, kea kal leh thil dang tihkhawtlai te chu a enkawl a ni.
• Hormone replacement therapy hi hormone lama harsatna nei te enkawl nan hman a ni .
• Lung lam harsatna emaw, cleft palate emaw avanga operation neih a ngai mai thei.
• Zirna lama harsatna nei naupangte chu sikulah special education programme- ah hruai an ni.

Engtikah nge i fa chu doctor hnenah i hruai ang?

A tam zawkah chuan doctor chuan nau piang lai emaw, naupan laia routine checkup neih lai emaw hian he natna hi a hmuchhuak ang. Mahse, i fain kan sawi tawh ang chi natna lan chhuah dan i rinhlelh chuan i doctor nen inbia nghal rawh.

Nu leh pa i nih angin i fain DiGeorge Syndrome ang chi genetic condition a nei tih i hriat chuan i lungngai hle thei a, i lungngai hle mai thei. Chu chu thil pangngai a ni. Mahse, enkawl dan dik leh puihna dik tak nen chuan heng naupangte hian nun hlim tak, hlim takin an nung thei tih hre reng ang che. Lung lam natna khirh tak ang chi nunna atana hlauhawm tak takte tih loh chu naupang tam zawk chu dam chhung pangngaiin an nung thei a ni.