Nu leh pa i nih angin i fa naupangte hriselna leh hmasawnna tur i ngaihtuah fo mai thei. A châng chuan, kan hriat tam loh, dinhmun tlemte chauh kan tawk ṭhin. Chutiang genetic condition hmuh tur awm lo mahse pawimawh tak pakhat chu Cornelia de Lange Syndrome, a tawi zawngin `(CdLS)` tih hi a ni. Hemi chungchang hi kan hlauh hmain awlsam tak leh chiang takin sawi ila, eng nge a nih i hrethiam ang u.
Cornelia de Lan’s syndrome (CdLS) hi eng nge ni tak tak?
A awlsam zawngin sawi ila, `(CdLS)` hi pian tirh laia awm, genetic condition awm lo tak a ni. Naupang taksa peng engemaw zat a nghawng thei a ni. A dik tak chuan kan taksa thanlenna nena inzawm gene engemaw zat inthlak danglamna (mutation) avanga lo awm a ni.
He dinhmun hi chi hnih ah hmuh theih a ni. Pakhat chu mild form a ni a , pakhat chu classic form a ni . A tam zawkah chuan he natna chungchang kan sawi hian classic form kan sawi a ni. Mahse, naupang form na lo tak takte pawhin heng symptoms ang chiah hi an lantir thei a, mahse a tlem zawkah chuan.
CdLS vei naute hi an rih zawng leh a lian zawngah te te an piang tlangpui. An lu vel pawh nausen pangngai aiin a te zawk thei bawk. Damdawi lam hawi chuan hei hi microcephaly an ti a. Heng taksa inthlak danglamna bakah hian rilru leh nungchang lama harsatna engemaw zat a awm thei bawk. Naupang \henkhat chuan \awng\ai tlai an nei thei bawk.
Hetiang natna lan chhuah dan hi engte nge ni?
`CdLS` symptoms hi naute pian hma emaw, a pian hnuah emaw hmuh theih a ni. Hetiang natna vei naupangte hmel lan danah hian thil langsar tak tak a awm a. Digestive system leh intellectual development lama harsatna an hmu thei bawk. Hengte hi dawhkan pakhatah han en ila.
| Mihring ziarang chi khat | Thil hmuh tur awm |
|---|---|
| Taksa lam ziarang bulpui ber | |
| Lu leh hmai | - Lu pangngai aia te zawk (Microcephaly) . - Mitmeng sei tak - Mitmeng chu a laiah a inthen a, a sei emaw a sei emaw a awm - Sam hnuai lam - Upturned, hnar tawi - Downturned, hmui te tak te - Ha leh mit inhlat deuh |
| Taksa peng dang | - Taksa sam sei lutuk - Kut leh ke hmasawnna lama harsatna awm - Lung lam chhiatna - Cleft palate a awm - Cryptorchidism (mipa naupang testicles tla lo) . |
| Gastrointestinal lama harsatna awm thei | |
| Harsatna awm fo thin | - Ek khal - Kawthalo - Luak chhuak - Pum a khat - A chang chuan ei duhna a tlahniam - Pum chhunga acid reflux (GERD) . |
| Thinlung leh nungchang lama harsatna a awm | |
| Nungchang leh hmasawnna | - Hmasawnna tlai - Zirna lama harsatna nei - Nungchang lama harsatna nei - Ngaihtuahna tlakchhamna nei tha lo (ADHD) . - Hlauhthawnna - Autism dinhmun `(Autism)` |
Tin, naupang thenkhat chuan hriatna leh mit lama harsatna (entir nan, myopia) an nei thei bawk.
Eng thilin nge hei hi a thlen? Hrilhfiahna a ni em?
CdLS hi mi tu pawh, hnam leh mipa leh hmeichhia pawh thliar lovin a nghawng thei a ni. A tam zawkah chuan amah chauha lo awm, chhungkaw pakhata hmuh ngai loh, genetic change avanga lo awm a ni.
Tun thleng hian `CdLS` natna thlentu gene 7 vel hmuhchhuah a ni tawh. Hetiang natna vei naupang hian heng gene pakhat emaw, a aia tam emaw-ah hian inthlak danglamna a nei thei a ni. Natna awmzia leh a nasat dan chu eng gene-ah nge genetic change a awm a, engtin nge a awm tih a innghat a ni. Entirnan, naupang gene `(NIPBL)` inthlak danglam chuan natna lanchhuahna na zawk an nei thei.
A pawimawh ber chu chhungkaw zinga naupang pakhatin `CdLS` a neih chuan a hnua naupangin a neih theihna chance a tlem hle (1-2% vel).
Mahse, a tlem berah chuan nu leh pa pakhatin `CdLS` natna a neih chuan naupangin a rochun theihna chance 50% a awm. Hei hi `(Autosomal dominant)` inheritance an ti a.
Engtin nge natna hi kan hriat theih ang?
I fain heng chhinchhiahnate hi a nei nia i rinhlelh chuan i tih hmasak ber chu naupang enkawltu doctor pan a ni tur a ni .
Doctor chuan naupang taksa chu uluk takin a enfiah hmasa ang a, i fa leh chhungkaw damdawi lam chanchin a zawt hmasa ang che. A bik takin CdLS nena inzawm taksa chhinchhiahna leh chhinchhiahnate an zawng ang.
Tichuan, a natna hriat chian nan genetic test neih a rawt thei bawk. Hei hian heng genes-a inthlak danglamna a zawng ber a ni:
- `NIPBL` tih a ni
- `SMC1A` tih a ni
- `RAD21` tih a ni
- `SMC3` tih a ni
- `HDAC8` tih a ni
Naupai lai hian kar 18-20 inkar ultrasound scan hian a chang chuan naute hmai emaw, a ke ruh emaw-ah thil dik lo a awm tih hriat theih a ni. Hei hian CdLS chungchangah hian clues engemaw zat a pe thei ang.
Engtin nge enkawl a nih?
Hei hi hriat a pawimawh: CdLS tidam kim thei tur damdawi bik a awm lo. Amaherawhchu, chu chuan kan tih theih a awm lo tihna erawh a ni lo. Enkawlna tum ber chu naupang natna lan chhuah dan enkawl a, a hrisel leh hlim thei ang bera nun puih hi a ni.
Hemi atan hian doctor pakhat chauh a tawk lo. Field hrang hrang atanga specialist leh therapist team te chu an inkhawm a, naupang enkawlna tur ruahmanna tha ber an siam thin. He team-ah hian hetiang hi an tel thei a ni:
- Naupang enkawltu doctor te
- Cardiologist - thinlung lam natna nei tan
- Physical therapist - taksa chetna tichak tur leh taksa ruh tichak turin
- Speech pathologist - thusawi leh inbiakpawhna lama harsatna nei tan
- Gastroenterologists - pum chhunga harsatna nei tan
- Mit lam thiam leh ENT surgeon te an ni
Ṭhenkhatah chuan, a cleft palate emaw, heart defect emaw siam ṭhat nân operation neih a ngai thei bawk. Damdawi pawh hi pum acid ang chi harsatna nei tan pawh pek theih a ni. Heng thutlukna zawng zawng hi i fa enfiahtu doctor-te siam vek a ni.
Nakin hun chungchâng eng nge i sawi theih ang?
He thu i hriat hian i thlamuang mai thei. `CdLS` vei naupang tam zawk hi chu dam chhung pangngaiin an hmang thin. Mahse, rilru lama harsatna engemaw zat an neih avangin an dam chhung zawngin, puitlin thlengin tanpuina leh enkawlna engemaw zat an mamawh dawn a ni. Hei hian an awmna leh hnathawhna hmun him siamsak a, chutih rualin zalenna engemaw chen pek tihna a ni.
Mahse, a tlem berah chuan harsatna thenkhat chuan dam rei zawng a ti tawi thei a ni. A bik takin, pneumonia lo awm leh thin, pianpui heart defects, leh chaw ei lama harsatna lian tak tak te hi uluk taka hmuhchhuah leh enkawl loh chuan a hlauhawm hle.
Chuvangin, i fa chu damdawi lam thurawn leh enkawlna mumal hnuaia awm reng hi a pawimawh ber a ni. Chutianga i tih chuan i fa chuan nun rei tak, hlim taka awm theihna hun ṭha tak a nei ang.
Take-Home Thuchah a ni
- Cornelia de Lange Syndrome (CdLS) hi pian tirh atanga lo awm thin, genetic condition hmuh tur awm lo tak a ni.
- Naupang tinah natna lan chhuah dan a inang lo thei hle. Thenkhatin symptoms na lo tak tak an nei thei a, thenkhat erawh chuan symptoms na tak tak an nei thei thung.
- Hei hi damdawi chiang tak awm lo mah se, a natna lan chhuah dan enkawl hian naupang chu nun tha zawk a neih theih nan a pui thei a ni.
- Chumi atan chuan specialist doctor leh therapist team te puihna a pawimawh hle.
- I fa chungchangah rinhlelhna i neih chuan tihkhawtlai suh la, naupang enkawltu doctor rawn rawh. Enkawlna leh hmangaihna mumal tak an neih chuan heng naupangte hi hlim takin an khawsa thei bawk.
💬 Comments (0)
Comment a la awm lo. Hetah hian i comment hi a vawikhatna atan add rawh.
I comment kha add rawh