Cornelia de Lange Syndrome hi eng nge ni? Kan sawi dawn nia!

I fa naupangte hmasawnna tur emaw, an hmel lan dan inthlak danglamna tenau thenkhat chungchangah emaw tlem i buai emaw, hriat duh emaw i nei ngai em? Nausen thenkhat chu naute dang aiin an than dan a inang lo deuh a, an hmel lan dan leh ke leh ke te pawh a inang lo deuh thei bawk. Vawiin hian kan sawi dawn a, thil awm lo tak, mahse hriat tur pawimawh tak kan sawi dawn a ni. Hei hi Cornelia de Lange Syndrome (CdLS) an ti a.

Cornelia de Lan-i natna (CdLS) hi eng nge ni?

A awlsam zawngin, hei hi genetic condition hmuh tur awm lo tak a ni . "Genetic" tih hian kan genes inthlak danglamna avanga thil awm tihna a ni. Hetiang dinhmun hian naute taksa pianzia te, rilru lama hmasawnna (zir thiamna ang chi), leh nungchang te a tidanglam thin.

A pawimawh ber chu he natna (CdLS) hian naute zawng zawng a nghawng dan inang vek lo a ni. Naute thenkhat chuan natna lanchhuahna na lo tak tak an nei thei a, thenkhat erawh chuan natna lanchhuahna na tak tak an nei thei thung. Strict takin sawi ila, he natna nei naute pahnih hi an inang chiah lo. Mahse, an hmel leh nungchangah hian inanna inang deuh deuh a awm. Hetiang dinhmun hian naute taksa peng hrang hrang a nghawng thei a ni. A lan chhuah dan tlangpui chu:

• Nau piang hma leh nau piang hnua thang chakna (growth retardation). Chumi awmzia chu naute chu a thau a tlahniam thei a, a sang lo thei tihna a ni.
• Lu leh hmaiah inthlak danglamna. Doctor-te chuan heng inthlak danglamna hi ``craniofacial`` an ti a. Hemi chungchang hi nakinah kan sawi leh ang.
• Kut leh kut zungtang lama chhiatna thenkhat.
• Taksa leh lu-ah sam pangngai aia tam neih. Hei hi ``hypertrichosis`` emaw ``hirsutism`` emaw an ti a.
• Thinlung lama harsatna nei te.

Hetiang dinhmun hi engtiang chiahin nge a awm?

Cornelia de Lann syndrome hi a takah chuan a awm lo hle a ni . Pian tirh lamah a awm reng a ni. Statistically chuan nau piang nung 10,000 zinga pakhat velah a awm a, nau piang nung 50,000 zinga pakhatah a awm bawk. Mahse, doctor-te chuan he natna vei naute ṭhenkhat chu hmuhchhuah lohvin an awm thei niin an ngai. Hei hi a chhan chu a symptoms a na lo hle a nih chuan condition dang nen a inmil lo thei a ni. A nih loh leh, (CdLS) nen an inzawm tih pawh an hre lo mai thei.

Cornelia de Lann syndrome natna lan chhuah dan chu engte nge ni?

Kan sawi tawh ang khan he natna hian naute zawng zawng hi a nghawng dan inang vek a ni lo. Nausen hrang hrangah symptoms a inang lo thei. I naute hian he natna hi a neih chuan a hnuaia symptoms pakhat emaw a aia tam emaw i hmu thei ang.

Hmai leh lu-a hmuh tur special features

Hengte hi ``Distinctive craniofacial features'' kan ti a.

• Mitmeng hi a laiah inzawm leh chunglam hawia inher angin a lang fo thin (hei hi `(synophrys)` an ti).
• Mitmeng chu a sei hle.
• Earlobes te hi a tlangpui aia hniam zawka dah a ni.
• Ha te hi a te a, an inkarah hian gap lian tak tak a awm bawk.
• Hnar chu a te a, a inher chhuak thin.
• Lu pangngai aia te zawk (doctor-te chuan hei hi ``microcephaly'' an ti).
• Cleft palate neih (hei hi mi zawng zawngah a thleng lo a, mahse mi thenkhat chuan an ti thei).

Neurodevelopment lam thil a ni

• Hmasawnna lama tlai lutuk. Chu chu, crawling age-a crawling lo, kal theih kum a kal loh ang chi thil tihna a ni.
• Mi tam tak chuan rilru lama harsatna lian tham (moderate to severe intellectual disabilities) an nei thei a , chu chu zirlai leh hriatthiamna ang chi thilah harsatna engemaw zat an nei thei tihna a ni.

Psychiatric features te pawh a awm

• ``(Autism spectrum disorder)'' tih ang chi nungchang an lantir thei bawk. Entîr nân, mi dangte nêna inbiak pawh an duh lo mai thei a, thil inang chu an sawi nawn leh mai thei bawk.
• Attention-deficit/hyperactivity disorder (ADHD) tih hming pu natna ang chi natna lan chhuah dan .
• Lungkhamna (anxiety disorder) a awm.

Thil langsar dang hmuh theih

Hei bakah hian Cornelia de Lann syndrome hian harsatna dang a thlen thei bawk:

• Nau piang hma leh pian hnua thang zawi zawi. Hei hian an tawi phah thei a ni.
• Kut, kut zungtang leh kut ruh-a thil danglam thenkhat.
• Taksaah sam pangngai aia tam neih (hirsutism).
• Hriatna hloh.
• Digestive system lama harsatna awm thei. Entirnan, chronic acid reflux (GERD) tih te hi a ni.
• Mipat hmeichhiatna lama thil danglam (abnormalities) a awm. Mipa naupangte zingah undecended testicles (cryptorchidism) ang chi te.
• Mitdelna a awm. Entirnan, hnai taka hmuh theih lohna (myopia).
• Seizures (`seizures` kan ti a).
• Lung natna. Entirnan, thinlunga khur (hole) neih hi.

Eng thilin nge Cornelia de Lan syndrome hi a thlen?

Hetiang dinhmun hi gene pasarih zinga pakhata inthlak danglamna (pathogenic variant) tha lo tak avanga lo awm a ni tlangpui . Heng genes te hi NIPBL, SMC1A, HDAC8, RAD21, SMC3, BRD4, leh ANKRD11 te an ni. Heng genes te hi an inzawm khawm chuan cohesin complex an tih thil pakhat chu a hnathawh dan tur dik takah a pui a ni.

Tunah chuan he `(cohesin complex)` hi eng nge a nih i ngaihtuah mai thei. A awlsam zawngin sawi ila, hei hi protein pawl pakhat a ni a, nausen pum chhunga a lo seilian lai hian hmun pawimawh tak a chang a ni.Hei hi naute ke leh taksa peng hrang hrang, hmai leh taksa peng dangte dik taka thanlen theihna tura genes mamawh control tu chu a ni. Chuvangin, a hmaa kan sawi tawh gene zinga pakhatah pawh inthlak danglamna a awm chuan he `(cohesin complex)` hnathawh hi a tichhe dawn a ni. Tichuan, naute than hmasakna a tibuai ang.

`(CdLS)` vei zinga 60% leh 80% inkar chuan `NIPBL` gene inthlak danglam vangin he natna hi an nei a ni. He natna hi gene dang paruk inthlak danglamna avanga lo awm a nih a rinawm loh. Mi dang 5% atanga 20% tan chuan he natna hi genetic cause hi hriat chian a la ni lo.

A tam zawkah chuan hetiang natna vei naupangte hian chhungkaw history-ah natna hi an nei lo. Chumi awmzia chu genetic change thar (`de novo mutation` an tih) avanga lo awm a ni fo tihna a ni. Mahse, nu leh pa pakhatin he natna lanchhuahna na lo tak tak a neih chuan he natna nei fa neih theihna chance 50% an nei a ni. Chutiang bawkin nu leh pa hrisel tak takte chuan `(CdLS)` vei fa an neih chuan, he natna nei fa dang neih theihna chance hi 1% leh 1.5% inkar a ni ang.

Hetiang dinhmun avang hian eng harsatna nge awm thei?

Cornelia de Lann syndrome hian taksa peng hrang hrang a nghawng avangin harsatna hrang hrang a awm thei a ni.

Digestive system lama harsatna awm thei

• Duodenal atresia: Naute intestine tenau hmun hmasa ber a inkharkhip.
• Congenital diaphragmatic hernia: Naute diaphragm (ril leh pum inthenna ruh)-a khur awm.
• `(Malrotation)`: Naute chhungril siam danah thil danglam tak a awm.
• Pyloric stenosis: Naute pum atanga intestine tenau thlenga hawnna a zim.
• Inguinal hernia: Naute intestine thenkhat chu abdominal wall-a hawnna pakhat hmangin groin area-ah a nawr lut a.
• Barrett’s esophagus: GERD na tak avanga lo awm thei a ni.

Genitourinary lama harsatna a awm

• Cryptorchidism: Naute mipa testicles te chu a pian hma emaw, a pian hnu rei vak loah emaw scrotum chhunga a chhuk theih lohna dinhmun a ni .
• `(Hypospadias)`: Nausen mipaah ​​chuan urethra chu penis-ah hmun dik takah a inhawng lo.
• `(Renal hypoplasia)`: Naute kal (kidney) pakhat emaw, a pahnih emaw chu a pangngai aia te zawk a ni.

Mit lama harsatna nei

• `(Ptosis)`: Mitmeng chunglam hnuai lam a tlak avangin mit hawn tha thei lo.
• Blepharitis: Mitmeng natna leh natna hrik awm.
• Mit lama harsatna: Entirnan, `(astigmatism)` (mit pawn lam layer curvature avanga mit hmuh lohna (blurred vision) ang chi dinhmun.

Engtin nge Cornelia de Lan-i syndrome hi an hriat theih?

I naute doctor chuan he natna hi a pian hnu lawkah emaw, a pian hnu rei vak loah emaw a hre thei mai thei . Doctor chuan i naute chu taksa lamah a enfiah ang a, a natna lan chhuah dan a zirchiang ang a, i chhungte damdawi lam chanchin a zawt ang.

Mahse, naute natna lan chhuah danA na lo hle a nih chuan a natna hriat chian a harsa thei hle. Chutiang hunah chuan doctor chuan a natna hriat chian nan genetic testing a dil thei a ni.

A tlem hle a, naute pian hmain he natna hi hriat theih a ni. Hei hi nau neih hmaa genetic testing an ti a . Hetiang dinhmun thlentu genetic mutations te hi a hre thei a ni.

Cornelia de Lan natna hi engtin nge enkawl a nih?

He natna enkawl dan hi naute hrang hrangah a inang lo a, naute tinte natna lan chhuah dan azirin a inang lo. Hetiang dinhmun hian taksa peng hrang hrang a nghawng avangin doctor team pakhat chuan enkawlna tur ruahmanna siam turin an thawk ho ang. Enkawlna atan hian:

Ei leh in leh chaw pek dan

• Naute a than chak loh nan calorie tamna formula leh/ emaw ei tur pe turin gastrostomy tube dah.
• Ei leh in lama harsatna chungchang sawiho turin nutritionist hnen atangin thurawn la rawh.

Inzai

• Ruh dik lo (bone abnormalities) a awm.
• Digestive system lama harsatna awm thei.
• Lung natna.
• Cleft palate a awm.
• Testicles hnuai lam lo.

Hetiang dinhmun enkawl nan hian operation neih a ngai mai thei.

Damdawi chi hrang hrang

• Anticonvulsant damdawi hian seizures (convulsions) a control emaw, a veng emaw a ni.
• Mahni intihhlum emaw, chetsualna emaw control nan antidepressants.
• Antibiotics hian thawkna lam natna a tidam thin.

Digestive leh heart condition thenkhat chu damdawi hmanga enkawl theih a ni bawk.

Therapies hrang hrang

Heng enkawlnate hi naute dam chhung zawnga chhunzawm zel a ngai a ni. Naute hmasawnna tlai te, rilru lama harsatna te, leh nungchang lama harsatna te chinfel nan damdawi chi hrang hrang hman theih a ni. Chûng zîngah chuan:

• Taksa lam enkawlna.
• Occupational therapy hmanga enkawlna.
• Thusawi hmanga enkawlna.
• Psychotherapy hmanga enkawlna.

Chu bakah, naute dam chhung zawnga thiltih thenkhat leh hmasawnna tlai lutuk te chu endik leh enkawl chhunzawm zel a ngai a ni. Hei hian a huam tel a ni:

• Hriatna leh hmuhna test.
• Growth leh psychomotor development (mi pakhatin a ngaihtuah angin hnathawh).
• Lung leh kal hnathawh.
• Digestive system hnathawh dan.

Hengte hi Doctor ten an enfiah reng tur a ni.

Cornelia de Lann syndrome vei dam rei zawng chu engzat nge ni ang?

Hetiang natna vei te dam rei zawng hi a tam zawk chu thil pangngai a ni.Hetiang natna vei naupang tam zawk hi puitlin thlengin an dam tha hle. Mahse, naute hian natna lanchhuahna na zawk thenkhat (a bik takin thinlung leh kawr lama harsatna nei) a neih chuan an dam chhung chu tlem a ti tawi thei a ni.

CdLS vei puitlingte chuan an dam chhungin damdawi lam enkawlna kalpui zel an mamawh thei a ni. Complication a lo awm chuan prognosis chu a nasat dan leh a enkawl danah a innghat a ni.

Hetiang dinhmun hi ven theih a ni em?

Genetic condition a nih avangin Cornelia de Lann syndrome hi ven theih a ni lo. Naupai i tum a, he natna vei fa neih theihna tur i hriat duh chuan i doctor nen genetic counseling emaw genetic testing emaw chungchang sawipui rawh .

I naute hian genetic condition hmuh tur awm lo tak a nei tih i hriat chuan mangang leh lungngaih hi thil pangngai a ni. Mahse, Cornelia de Lann syndrome vei naupang tam zawk chu nun pumhlum an hmang a, puitlin thlengin an hlawhtling hle tih hre reng ang che.

I naute dinhmun hriat chian a nih veleh i doctor chuan enkawl dan hrang hrang a sawipui ang che. Specialist team nen pawh thawh dun a ngai mai thei bawk. A pawimawh ber chu i naute dinhmun hi i theih ang anga zir a, enkawlna tha ber pek kawngah hma la rawh.

Hriat reng tur pawimawh ber berte (Take-Home Message) .

Okay, chuvangin kan sawi tawh atang hian i hriat reng tur pawimawh tak tak thenkhat chu khaikhawm ila:

• Cornelia de Lan syndrome (CdLS) hi genetic condition hmuh tur awm lo tak a ni.
• Hei hian naute hmel, a thanlenna, a finna, leh a nungchang a nghawng thei a ni .
• Nausen hrang hrangah symptom a inang lo ; ṭhenkhat chu a nêm a, ṭhenkhat chu a na hle.
• A chhan chu genes inthlak danglam vang a ni.
• Enkawlna chu naute natna lan chhuah danah a innghat a ni. Therapeutic method hrang hrang, a tul chuan surgery te, damdawi te pawh hman theih a ni.
• Hetiang dinhmun hi ven theih ni lo mah se, genetic counseling hian i hlauhawmna chu a hriat theih nan a pui thei che a ni.
• Hêng naupangte hi a hmaa hriat chhuah te, uluk taka enkawl te, leh hmangaihna nêna enkawlna te hian nun awmze nei tak nei turin a ṭanpui thei a ni.

Hemi chungchangah hian zawhna dang emaw, ngaihtuahna dang emaw i neih chuan i chhungkaw doctor emaw, naupang enkawltu emaw nen inbiakna neihpui ngei ang che. I mamawh kaihhruaina an pe ang che.

` Cornelia de Lanne syndrome, CdLS, genetic diseases, naupang hriselna, hmasawnna tlai, taksa pianphung, natna hmuh tur awm lo