Beckwith-Wiedemann Syndrome chungchanga hriat tur awmte

I naute hi a pian tirh hian naute dang aiin a lian deuh em? Chutiang a nih chuan i hlim mai thei, mahse, i hriat duhna tlem pawh a awm thei a, i hlauthawng pawh a ni mai thei, "Engvangin nge ka naute hi a lian em em?" A tam zawkah chuan hei hi naute sang tak, hrisel tak neia i pian vang mai a ni. Mahse, a tlem hle a, hei hi genetic condition hmuh tur awm lo vang a ni thei. Vawiin hian chutiang dinhmun pakhat, Beckwith-Wiedemann Syndrome (BWS) chungchang kan sawi dawn a ni. He hming hi hre hlau suh. Chu chu i hriat chian chuan nang leh i doctor hian i naute enkawl tha turin i thawk ho thei ang.

A awlsam zawngin, Beckwith-Wiedemann Syndrome (BWS) hi eng nge ni?

Hei hi genetic condition hmuh tur awm lo tak a ni. Thil thleng chu naute taksa thanlenna atana inrawlh gene thenkhat chu an thawk nasa lutuk a ni. Chumi avang chuan naute taksa peng thenkhat emaw, taksa pum pui emaw chu a pangngai aia rang zawkin a thang lian thin.

Hei hi "Beckwith-Wiedemann spectrum" an ti bawk. "Spectrum" tih awmzia chu spectrum ang mai a ni. Chumi awmzia chu he natna hian naute zawng zawng a nghawng dan inang lo tihna a ni. Naute thenkhat chuan he thil nena inzawm chhinchhiahna pakhat emaw pahnih emaw chauh an nei thei. Nausen dangte pawhin symptom tam tak an nei thei bawk. Chuvangin, he natna nei naute pahnih hi an inang ngai lo.

Hetiang dinhmun hi engte nge ni?

Kan sawi tawh ang khan naute zawng zawng hian heng symptom zawng zawng hi an nei vek dawn lo. Mahse, a tlangpui tlemte chu a awm. I doctor chuan heng symptoms pakhat emaw a aia tam emaw an hmuh chuan BWS hi a ringhlel ang.

Cancer hlauhawmna hi kan hlau tak tak tur em ni?

Hei hi BWS chungchang sawi dawn chuan nu leh pate ti hlauhawm ber topic a ni. Ni e, BWS vei naupangte hi naupang dang aiin naupang cancer chi hrang hrang (a bik takin Wilms tumor, kal cancer, leh hepatoblastoma, thin cancer) vei an tam zawk.

Mahse, hetah hian thil tlemte chiang taka kan hriatthiam a ngai a ni.

1. Risk hi sang mahse, a pumpuiah chuan a la hniam hle. He hlauhawmna hian BWS vei naupang 100 zinga 7-8 vel a nghawng a ni.

2. He risk hi kum 8 hmasa berah a sang ber. Chumi hnuah chuan risk chu nasa takin a tlahniam ta a ni.

3. A pawimawh ber - medical check-up neih fo!Doctor-te hian he hlauhawmna hi an hriat avangin BWS vei naute zawng zawng chu schedule mumal takin screening an nei vek a ni. A tlangpuiin thla thum danah abdominal ultrasound scan leh thisen test (AFP test) neih thin a ni.

Engvangin nge hetiang hi a lo awm? A chhan engte nge ni?

Hei hi a chhan chu a buaithlak deuh a ni. Kan taksaa cell tin hian chromosome an tih hi an nei vek a. Chungte chu kan taksa siam dan tur zirtirna bu ang a ni. BWS-ah chuan chromosome 11-a gene engemaw zat, thanna controltu hnathawh danah inthlak danglamna a awm a.

A awlsam zawngin, thanlenna "control" tu gene te chu a reh deuh deuh a, thanlenna "drive" tu gene te chu an thawkrim zawk thin. Hei hi genomic imprinting an ti a .

• Hei hi thil thleng mai a ni fo thin: BWS vei naupang 85% vel chuan chhungkaw history-ah he natna hi an nei lo. Hei hian he genetic change hi a lo thleng mai mai a, random takin a thleng tihna a ni.
• Rarely hereditary: Za zela tlemte, 10-15% vel chuan he natna nena inzawm genetic change hi an nu leh pa pakhat hnen atangin an rochun thei a ni.
• ART nena inzawmna: Research atanga a lan dan chuan naupang assisted reproductive technology (ART) hmanga nau pai, IVF (In Vitro Fertilization) , te hian BWS ang chi natna an vei theihna chance a sang deuh hlek a ni. Mahse, he link chungchangah hian zirchianna chu a la kal zel a ni.

Engtin nge doctor-te hian hei hi an hriat chian? (Diagnosis) tih a ni.

BWS hi naute pian hma emaw, a pian hnuah emaw hriat theih a ni.

Nau neih hmaa natna hriat chian (prenatal Diagnosis).

Naupai laiin ultrasound scan an neih laiin doctor chuan a hnuaia mite hi a hmuh chuan BWS a ringhlel thei a ni:

• Naute chu a pangngai aia lian a ni.
• Naute chhehvela amniotic fluid awm tam (polyhydramnios) .
• Nausen (placenta) lian tham tak a awm
• Kidney lian tham (nephromegaly) .
• Pum bang lama harsatna (omphalocele) .

Heng symptoms te hi i hmuh chuan i doctor chuan special genetic test, amniocentesis (amniotic fluid testing) tih hmangin i natna hi a nemnghet thei ang.

Naute a pian hnuah (Postnatal Diagnosis) .

Naute a pian hnuah Doctor chuan naute chu a enfiah ang a, a hmaa kan sawi tawh taksa chhinchhiahna (lei lian, taksa sir khata lian, etc.) te chu a zawng ang. Ringhlelna a awm chuan naute thisen sample lak theih a ni a, naute hian BWS a nei em tih leh a chhan chu eng nge ni tih finfiah nan special genetic test neih theih a ni.

Enkawlnate chu engte nge ni? (Tihdamna)

BWS hian taksa peng hrang hrang tam tak a khawih theih avangin naute chu doctor pakhat chauhin a enkawl lo. Naupang enkawltu, surgeon leh speech therapist te pawh telna specialist team chuan naute hi an enkawl a ni.

Naute natna lan chhuah dan a zirin enkawl dan tur a ruat thin.

Naute hian eng ang hmalam hun nge a neih ang? (Prognosis) tih a ni.

Hei hi i rilrua zawhna lian ber a ni mai thei. BWS hi natna khirh tak ni mahse, he natna vei naupang tam zawk hi chu an dam tha hle a, an hlim hle a, an nun pangngaiin an awm bawk.

Naute hmalam hun tur tichiangtu thil engemaw zat a awm a:

• Naute hian eng symptoms nge a neih a, engtiang chiahin nge a nasat?
• Engtiang chiahin nge diagnosis an siam nghal vat.
• Enkawlna leh cancer screening a hun taka tih a nih leh nih loh.

Natna hi a hmaa hriatchhuah a nih a, enkawlna dik pek a nih a, damdawi lam enkawlna hnuaia awm reng a nih chuan naute chuan rah tha tak a beisei thei a ni.

I naute hian BWS a nei tih i hriat chuan i mangang a, i lungngai a, i hlau bawk. A pangngai a ni. Zawhna tam tak i nei mai thei. Heng zawng zawng hi i doctor nen sawiho rawh. I naute dinhmun bik hriatthiamna tha ber a pe thei ang che. Nangmah chauh i ni lo tih hre reng ang che. Doctor team ropui tak tak an awm a, an pui thei che a ni. In pahnih hian in naute chu hlim tak leh hrisel taka seilian theihna tur boruak tha ber in siam thei a ni.