I fa chu a tar chak em? Progeria chungchang hi i zir dawn teh ang

Nu leh pa kan nih angin kan naupang tê lo seilian chu duhthusam takin kan en vek a, ni tin. Mahse, han ngaihtuah teh... naupang chu a pangngai angin ni lovin, ngaihtuah phak loh khawpin a upa a nih chuan engtin nge ni ang? Ngaihtuah thiam a har takzet. Vawiin hian hetiang natna hlauhawm tak, mahse hriat tur pawimawh tak chungchang kan sawi a ni. Hei hi Progeria an ti a.

Progeria hi eng nge ni tak tak?

A awlsam zawngin sawi ila, Progeria hi thlahtu natna (genetic disease) hmuh tur awm lo tak a ni a, naupang taksa chu a tar chak hle. Hetiang natna nei naupang hi an pian tirh hian naupang hrisel ang maiin an lang. Mahse, kum khat emaw kum hnih emaw chhungin he tar chakna chhinchhiahna an lantir tan thin. An thanna rate a tlahniam nasa hle a, an thau pawh a zawi zawi hle bawk.

Mahse a pawimawh ber chu, heng naupangte zingah hian finna tlakchhamna a awm lo . An fing hle mai. Buaina chu taksaa tar chak lutuk avanga taksa inthlak danglamna lo awm thin hi a ni.

"Progeria" tih hming hi Greek tawng "geras" atanga lak a ni a, a awmzia chu "tar" tihna a ni. He natna chi khat ber chu Hutchinson-Gilford progeria syndrome (HGPS) an ti a.

Hei hi thil lungchhiatthlak tak a ni a, a chhan chu Progeria damdawi a awm loh vang a ni. Heng naupangte dam rei zawng hi kum 14.5 vel a ni. Mahse, naupang ṭhenkhat chu kum 20 hnuai lam thlengin an dam. Heng naupangte thihna thlentu ber chu heart attack emaw stroke emaw a ni . A chhan chu atherosclerosis , natna pakhat, thisen kalna kawng (arteries) a ti thim thin hi puitling kum upa zawkah a lo awm tlangpui a, heng naupangte hi an naupan lai atang hian a lo awm thin.

He natna hi tuin nge vei? Engtiang chiahin nge a hluar?

Progeria hi genetic condition a ni a, tu pawh a nghawng thei a ni. Mahse rochun atanga lo chhuak a ni lo . Chu chu nu leh pa atanga rochun a ni lo tihna a ni. De novo genetic mutation avanga lo awm a ni tlangpui. Chu chu naupai hmaa sperm-a random change lo awm tihna a ni.

Progeria natna lan chhuah dan chu engte nge ni?

Progeria natna lan chhuah dan hi tar pangngai nen a inang a, mahse kum naupang takah a lang chhuak thin. Heng symptoms te hi kum hnih hmasa berah hmuh theih a ni. Heng symptoms te hi i titawp ang u.

Hei hi eng nge a chhan? Engvangin nge hetiang hi a lo awm?

Hei hi kan taksaa gene pakhata inthlak danglamna tlem lutuk vang a ni. He gene hi LMNA gene an ti a . He gene hnathawh hi protein lamin A siam a ni a, chu chu kan taksa chhunga cell tin nucleus-ah a awm a, a pianzia vawng reng turin a pui a ni.

Kan cell te hi brick angin ngaihtuah la, a chhunga nucleus chu control center angin ngaihtuah rawh. Lamin A protein chu chu nucleus vel chu framework nghet tak ang mai a ni.

Progeria-ah chuan LMNA gene-a tihsual tlem a awm avangin lamin A protein copy dik lo, danglam tak siam a ni zawk. Hei hi an ti aProgerin a ni a . He progerin protein chhia hian cell nucleus chu a chakna a hloh a, a nghet lo hle. Zawi zawiin heng cell te hi a chhe vek a, a hun hmain an thi thin. Taksa cell tinah hetiang thil a thlen hian taksa pum pui chu a upa tan nghal vat thin.

Hei hi thlahtu natna a ni em?

Ni lo, a tam zawkah chuan hei hi rochan a ni lo. Hei hi random genetic mutation a ni. Hei hi autosomal dominant condition a ni. Chumi awmzia chu gene chhia copy khat neih pawh hi natna thlentu atan a tawk tihna a ni.

Mahse, thil pakhat a awm. Progeria vei naupang i neih tawh chuan naupang dangin he natna hi an vei theihna chance a sang deuh a, 2% leh 3% inkar a ni. Hei hi mosaicism an tih condition vang a ni . Chumi awmzia chu nu leh pa zinga pakhat chuan an taksa cell thenkhatah (entir nan, sperm emaw egg emaw siamtu cell-ah) he genetic mutation hi a nei a, mahse symptoms an lantir lo tihna a ni. Chuvangin i fain Progeria a vei a nih chuan genetic testing zawng a, hemi chungchang hi i doctor nen inbiakna neih a pawimawh hle.

Engtin nge natna hi hriatchhuah leh enkawl a nih?

I fa taksa pianzia leh a natna lan chhuah dan a zirin i doctor chuan he natna hi a ringhlel thei a ni. Diagnosis finfiah nan naupang thisen sample lak a ni ang a, genetic testing neih a ni ang.

Enkawl dan tur

1. Damdawi: Hemi atan hian damdawi Lonafarnib hi hman a ni. He damdawi hi a tir chuan cancer tan siam a ni a, Progeria natna zual zel tur titawp turin a pui tih hmuhchhuah a ni. He damdawi hian naupang dam rei zawng chu kum 2.5 velin a ti rei thei tih hmuhchhuah a ni. Hei,

• Thisen kalna kawngte a inthlak danglam theihna a tipung.
• Ruhte insiam dan a tichak.
• Taksa rihna tihpun nan a pui.
• Hriatna a titha.

2. Taksa lam enkawlna leh hnathawhna lama enkawlna:

Physical therapy hian naupang ruh (joint mobility), balance leh posture te a vawng reng thei a ni. Occupational therapy hian naupang chu mahni inrintawkna neia ei a zir theih nan a pui a, mimal faina a vawng reng thei a, nitin hna awlsam takin a thawk thei bawk a, chu chu ziak ang chi hi a ni.

3. Damdawi lam enkawlna reng reng:

Progeria vei naupang chuan harsatna awm thei te chu hriatchhuah leh enkawl thuai theih nan damdawi lam enkawlna a mamawh reng a ni.

Nu leh pa angin engtin nge i fa i enkawl?

I fain Progeria a vei tih hriat chu thil harsa tak a ni. A buaithlak hlein a lang thei. Mahse he zinkawngah hian nangmah chauh i ni lo. A pawimawh ber chu i fate tana a pangngai leh hlim thei ang bera inchhung boruak siam hi a ni.

• Nun pangngai pe rawh:I fa chu a tih theih zawng zawngah tel tir la, chhungkaw naupang dangte zingah hnawhchhuah anga inhriat loh nan fimkhur rawh.
• Thudik sawi rawh: I fate hnênah an dinhmun chu a hriatthiam theih nân leh a kum nêna inmil tûrin sawipui rawh. Hemi chungchang hi chhungkuaa mi zawng zawng nen rinawm taka inbiakna neih a pawimawh. A tul chuan chhungkaw counseling zawng rawh.
• Midangte chhân lêtna atân i fa chu buatsaih rawh: Mi ṭhenkhat chuan mak ti takin emaw, râpthlâk takin emaw i fa chu an en mai thei. Chutiang dinhmunte chu i fate hmachhawn dân zirtîr rawh.
• School nena inzawmna siam: Progeria vei naupang tam tak chu sikul an kal thin. I fate himna leh thlamuanna a awm theih nan school enkawltute, zirtirtu leh nurse-te nen inbiak reng rawh. Thil pawimawh (e.g., rilru na, thawk harsa) a awm chuan eng nge tih tur tih ruahmanna siam la, sikul hriattir zel ang che.