I chhungkuaa rawn tel thar i hmuh hian engtiang chiahin nge i phur? Mahse, i naute taksa pum pui chu a pian hnu lawkah vun sei tak, hnim hring, hnim hring hring in a khuh vek a nih chuan han ngaihtuah teh? Chu chu a hmuh veleh nu leh pa tu pawhin an neih thin mangang leh hlauhna chu thumal hmanga sawi harsa tak a ni. Vawiin hian chutiang natna hlauhawm tak leh na tak pakhat, Harlequin Ichthyosis chungchang kan sawi dawn a ni. He thu i hriat hian hlau suh. Tunah chuan medical science hmasawnna avang hian he natna hi enkawl dan tur tam tak a awm ta a ni. Hemi chungchang hi i zir belh zel ang u.
A awlsam zawngin, Harlequin Ichthyosis chu eng nge ni?
Harlequin Ichthyosis hi vun natna Ichthyosis an tih zingah chuan a na ber leh na ber a ni a . Ichthyosis hi kan vun cell te than dan leh thih danah harsatna a awm chuan a lo awm thin a ni. Ichthyosis chi thenkhat chu a na lo hle a, vun enkawlna tha tak hmangin control theih a ni. Mahse, Harlequin Ichthyosis hi nunna atana hlauhawm tak a ni a, pian tirh atangin damdawi lam hnaih taka enkawl a ngai a ni.
Hei hi genetic disease a ni a . Chumi awmzia chu nu leh pa atanga fate rochun a ni tihna a ni. He natna hi a tlem em em a, naupang 500,000 zinga pakhat vel chauh a vei a ni. Amaherawhchu, tunlaia enkawlna changkang tak takte nen chuan he natna vei naupang piangte hian puitlin thlenga nun theihna hun remchang an nei ta a ni.
He natna lan chhuah dan berte chu engte nge ni?
He natna lan chhuah dan hi naupang kum a zirin a inang lo deuh a. Nausen piang thar leh naupang kum upa deuh deuhte natna lan chhuah dan a inang lo. Fiah taka hriatthiam theih nan hetiang hian i then darh ang u.
| Kum hrang hrang | A lan chhuah dan tlangpui |
|---|---|
| Nausen piang thar |
|
| Naupang kum upa zawk leh puitling tan |
Hetiang dinhmun hi a hrehawm em?
Ni e, hei hi nausen piang thar tan chuan a hrehawm thei hle. Vun chhunga hruihrual thuk tak, vun natna hrik chhuak te kha han ngaihtuah teh. Chuvangin neonatal intensive care unit (NICU) -a doctor leh nurse-te chuan naute natna tidam thei damdawi (e.g., Paracetamol, Ibuprofen) an pe thin. Naute thinlung thawk leh tap enfiahin a natna chu an teh a, a theih ang anga an hlim theih nan an enkawl bawk .
Engvangin nge hetiang hi a lo awm? Eng nge a chhan?
Hei hi a chhan ber chu gene ABCA12 a mutation vang a ni. Hei hi awlsam takin i hrethiam ang u.
He ABCA12 gene hi ‘Delivery Service’ angin han ngaihtuah teh, chu chuan thil pawimawh tak tak, thau (lipids) ang chi te chu kan vun pawn lam layer-ah a phur chhuak thin. He thau layer hian kan vun hi a ti flexible a, a hrisel bawk. Harlequin Ichthyosis veiah chuan he gene-a chhiatna avang hian chu ‘Delivery Service’ chu a thawk tha lo hle. Chuvang chuan thau chu vun cell-ah a thleng tha lo va, vun cell te chu a chungah an inzawm khawm a, layer thuk leh khauh tak an siam ta a ni.
Hei hi genetic disease a nih avangin naupangin he natna hi a neih theih nan chuan nu leh pa atanga rochun a ngai a ni.He gene chhia hi rochun a ngai a ni. Nu leh pa pahnih hi gene chhia (symptoms nei lo, mahse gene nei tihna) kengtu an nih chuan an fain natna a vei theihna chance 25% (pali zinga pakhat) a awm.
Doctor ten he natna hi engtin nge an hriatchhuah a, an enkawl?
Vawi tam tak chu naute pianhmang danglam bik avang hian doctor-te chuan he natna hi an hre thei a ni. Mahse, a finfiah nan genetic testing an nei thin. Naupai lai pawhin doctor-te chuan ultrasound scan-a vun inthlak emaw, naute hmui hawn fo emaw ang chi chhinchhiahna an hmuh chuan he natna hi an ringhlel thei a ni. A tul chuan naupai laiin test bik (amniocentesis ang chi) hmangin an natna hi an hre hmasa thei bawk.
Enkawl dan tur
Harlequin Ichthyosis hi natna tihdam theih vek a ni lo a, mahse a natna lan chhuah dan chu enkawl theih a ni a, naupang chu nuam tak, dam rei tak a awm thei a ni.
Enkawlna hi chi hnih ah then theih a ni:
1. Neonatal Intensive Care Unit (NICU) enkawl dan: Nausen dam chhung kar hmasa berte hi a hlauhawm ber a ni. Hemi hun chhunga enkawlna pek hi naute nunna chhanhimtu a ni.
2. In lama hun rei tak enkawl: NICU atanga in lama haw hnua dam chhung enkawl.
He enkawl dan hi chipchiar takin han thlir ila.
| Enkawl dan tur | Hrilhfiahna |
|---|---|
| NICU ( Neonatal Intensive Care Unit) a enkawl dan tur a ni | |
| Retinoid hmanga enkawlna | Hei hi damdawi ei tur emaw, vunah hnawih emaw a ni. Vun thick layer chu a peel nghal vat a, a hnuaia vun pawh a dam theih nan a pui bawk. Hei hi tun hnaiah heng naupangte nunna chhanhimna chhan ber a ni. |
| Vun enkawl dan | Vun chhunga tui awm reng turin special moisturizer leh ointment te hi hman fo thin a ni. Antibiotic ointment hi vunah hnim hring atanga hrik lut lo turin an hnawih thin. |
| Environment lum tak a ni | Naute dahna incubator-ah hian humidity a sang hle. Hei hian vun vawt a ti tlem a ni. |
| Nutrition leh nau hnute pek dan | Bawnghnute a pai theih loh avangin a pum chhunga dah tube te tak te (feeding tube) hmangin a mamawh ei tur pek a ni. |
| In lama hun rei tak enkawl | |
| Inbual fo thin | Nitin inbual hian vun a ti nem a, vun thi layer thuk tak takte a paih chhuak bawk. |
| Moisturizer hnawih fo thin | Ni khatah vawi tam tak i taksa pum puiah moisturizer emaw petroleum jelly ang chi emaw i hnawih tur a ni. Hei hian vun a vawt lo ang a, a chhe thei lo bawk ang. |
| Specialist te nena inhmuhkhawmna | Dermatologist nen hian inzawmna nghet tak neih a pawimawh hle . Tin, mit, beng leh ruhkawr lama harsatna nei te chu specialist te i pan fo a ngai bawk ang. |
| Temperature sang atanga venhimna | I thawmhnaw a chhuah theih loh avangin khaw lumah taksa a lum lutuk thei a ni. Chuvangin ni leh khaw lum lakah fimkhur a ngai a ni. |
A pawimawh ber chu nu leh pa leh chhungte hmangaihna, ngaihsakna leh rilru chakna hi a ni. Hei hi zinkawng harsa tak a ni. Chuvang chuan doctor, counselor, leh chhungkaw dang hetiang naupang nei te hnen atangin tanpuina dil a pawimawh hle.
Take-Home Thuchah a ni
- Harlequin Ichthyosis hi a awm lo hle a, mahse genetic skin disease na tak a ni. Hri kai theih a ni lo.
- Hetiang dinhmun hi nau piang thar tan chuan nunna atana hlauhawm tak a nih avangin kar hmasa berah neonatal intensive care unit (NICU)-ah enkawl a pawimawh hle.
- Tunlai damdawi hmanga enkawlna, a bik takin retinoid therapy -te avang hian heng naupangte damchhuahna hi nasa takin a pung a ni.
- Hei hi dam chhung zawnga dinhmun a ni. Vun enkawl reng a pawimawh a, ei leh in tur dik tak pek a pawimawh a, specialist doctor-te thurawn zawm a pawimawh bawk.
- Enkawlna dik tak a awm chuan he natna vei te hian nun rei tak, nuam tak leh awmze nei takin an nung thei a ni.
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