I naute chu a tar chak lutuk niin a lang em? Progeria chungchang hi han sawi ila!

Aw, a chang chuan kan fa te te damlo te hmuh hi a lungchhiatthlak em em thin a ni lawm ni? A bîk takin, naupang chu a kum aia upa zâwk anga lang a nih chuan, nu leh pate’n an hmuh chuan engtin nge an ngaih? Vawiin hian natna hmuh tur awm lo tak, mahse hriat tur pawimawh tak chungchang kan sawi dawn a ni. Hei hi `Progeria` an ti a. Hei hi a takah chuan naupang chu a kum aia upa chak zawka siamtu genetic disease a ni.

`Progeria` tih hi eng nge ni? A awlsam zawngin hrethiam ila, kan hrethiam ang em?

A awlsam zawngin sawi ila, Progeria hi genetic disease hmuh tur awm lo tak a ni. Hemiah hian thil thleng chu naupang chu a tar chak hle a ni. Ngaihtuah teh, thlai te tak te i phun hian a lo thang zauh zauh a. Mahse he natna vei naupangte hi rang takin an thang chak a, an upa zawkin an lang.

Pian tirh hian heng naupangte hi an hrisel a, naute dang ang bawkin an awm fo thin. Mahse an dam kum khatna emaw kum hnih emaw chhungin tar hma lutuk chhinchhiahna an lantir tan thin. An than chakna a tlahniam a, beisei angin an rihna a pung lo. Mahse, heng naupangte hian finna lamah tlakchhamna an nei lo tlangpui. Chu chu kan hre reng tur a ni bawk.

Hetiang dinhmun avanga taksa lama inthlak danglamna thenkhat chu hetiang hi a ni:

• Sam tlakchham (baldness) .
• Mit chhuak chhuak
• Kum upa tawh, vun hring hring
• A hnar te tak te, pointed tak a ni
• Lu lian leh te nena khaikhin chuan hmai a tlem tawk lo
• Vun hnuaia oil layer hloh

"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. Kum 1800 chho tawp lam khan doctor pahnih, Dr. Jonathan Hutchinson leh Dr. Hastings Gilford te chuan an sawi hmasa ber a ni.

Lungchhiatthlak takin Progeria hi natna hlauhawm tak a ni fo thin. Heng naupangte thih kum hi kum 14.5 vel a ni. Mahse, Progeria vei thalai thenkhat chu kum 20 hnuai lam thlengin an dam tawh a ni. Damdawi pakhat Lonafarnib an tih hian natna a zual zel dan a tikhawtlai tih hmuhchhuah a ni.

Thihna tam zawk hi atherosclerosis na tak avanga harsatna awm vang a ni . Hei hi thinlung natna tho, puitling kum upa lam maktaduai tam takte vei ṭhin chu a ni. Mahse heng naupangte hi kum naupang zawkah a nghawng a ni. Atherosclerosis hi i thisen kalna kawng (arteries) bang chhungah thau (plaque) a lo awm khawm a, chu chuan a tichak lo va, a khauh zawk bawk. Hei hian heart attack emaw stroke emaw ang chi dinhmun a thlen thei a ni.

Progeria natna hian tute nge a nghawng ber?

Progeria hi genetic condition awm lo tak a ni a, tu pawh a nghawng thei a ni. A tam zawkah chuan de novo genetic mutation avanga lo awm a ni. Hei hian chhungkaw zingah tumahin he natna hi an la vei lo tihna a ni .

Progeria hi engtiang chiahin nge a awm?

Hei hi a tlem hle. Khawvel puma nau piang nung maktaduai li zinga pakhat chauh hi he natna hian a vei a ni. Tunah hian khawvel pumah Progeria vei naupang leh thalai 400 vel an awm nia chhut a ni.

Progeria natna lan chhuah dan chu engte nge ni?

Progeria natna lan chhuah dan hi miten an tar dan pangngaia an tawn ang chiah chiah a ni. Mahse, kum naupang zawkah an lang chhuak thin. Progeria vei naupangte kum hnih chhungin heng tar chakna chhinchhiahnate hi an lantir tan thin:

• Growth retardation/a tawi zawnga awm.
• Vun a hring (wrinkling) a awm.
• Sam tlakchham (baldness).
• Joint stiffness leh che harsa.
• Vun khauh, hrual, `Scleroderma` tih ang chi.
• Taksa thau a tlahniam.

Craniofacial abnormalities te chu:

• Lu hmalam (fontanelle) hmun nem tak chu a inhawng zau hle.
• Lu lian leh te nena inzawm chuan hmai te tak te (macrocephaly - lu lian mahse hmai te tak te awmna).
• A hnar chu a hrual a.
• Ha chhuah hun sawn hlat.
• A hmui te tak te (a lo thanglian lo) (`micrognathia`).

Natna a zual zel chuan heng ang chi chhinchhiahna langsar lo zawkte pawh a lo lang thei bawk:

• Hip dislocation a awm.
• Mit (cataract) a awm.
• Arthritis natna a ni.
• Arteries-a plaque awm zat.

Eng thilin nge Progeria hi a thlen?

Progeria thlentu ber chu LMNA an tih gene-a genetic mutation vang a ni. He LMNA gene hian protein lamin A a siam a, chu chuan kan taksa chhunga cell tin nucleus chu a vawng tlat thei a ni. Cell atana in bang ang maiin han ngaihtuah teh.

`LMNA` gene-a mutation tlemte tak mai hian `lamin A` protein chi khat, `progerin` an tih chu a siam danglam a ni. He `progerin` hian `lamin A` a thlak a, kan cell nuclei te chu a tichhe a, zawi zawiin a tichhia a ni. Hei hian kan taksaa cell zawng zawng chu a thihpui thuai a ni. Chu chu he tar hma lutuk chhan a ni.

Progeria hi thlahtute atanga lo chhuak a ni em?

Progeria hi `LMNA` gene-a thil thar, mahni insiam (`de novo` mutation) avanga lo awm a nih a rinawm ber. Chumi awmzia chu nu leh pa atanga rochun a ni lo tihna a ni. A tam zawkah chuan he mutation hi naupai hma, sperm-ah a thleng thin.

Progeria hi a dominant nge recessive?

Progeria hi autosomal dominant disorder a ni a, chu chu cell tin hian mutated gene copy khat nei mahse, he natna thlentu tur hian a tawk tihna a ni.

Engtin nge Progeria hi hmuhchhuah a nih?

I fa doctor chuan i fa taksa pianzia a zirin a natna hi a hre thei mai thei. I fa chu a enfiah ang a, i natna lan chhuah dan a zawt ang che. Progeria nia rinhlelh a nih chuan genetic testing hmangin a natna hriat chian theih a ni. Hei hian i fa thisen sample lak a huam a ni.

Progeria natna hi eng enkawlna nge ni?

Tunah hian Progeria hi damdawi a la awm lo. Mahse, zirchiangtute chuan he natna hi tidam thei damdawi eng emaw zat an zirchiang mek a ni. Progeria enkawlna atana hman thin damdawi hi Lonafarnib (ZokinvyTM) tih a ni. A nihna takah chuan cancer enkawlna atana siam damdawi a ni. Mahse, Lonafarnib hian Progeria natna kawng tam takah hmasawnna a lantir a ni. He natna vei naupangte dam rei zawng chu kum hnih leh a chanve velin a pung a ni. Naupang damdawi ei apiangin a hnuaia thil pali zinga pakhat emaw a aia tam emaw-ah hmasawnna an nei a ni:

• Thisen kalna kawngte a flexibility tihpun.
• Ruh structure tihhmasawn dan.
• Rihna a sang chho zel.
• Hriat thiamna tihchangtlun.

Physical therapy hian i fa chu range of motion, balance, leh posture tha tak nei turin a pui thei a ni. Hip leh ke natna tihziaawmna atan pawh a pui thei bawk. Occupational therapy hian i fa chu ei leh in, mimal faina leh kutziak tihchangtlun nan a pui thei a ni.

A pawimawh ber chu i fate chu a hrisel leh hahdam thei ang bera an nun theihna tura an mamawh enkawlna pek hi a ni.

I fa doctor chuan he natna hi thil hrang hrang hmangin a enkawl ang a, a enkawl ang:

• Heart disease screening: I fa doctor chuan i fa thisen sang a enfiah ang a, echocardiogram ang chi test pawh a ti fo ang. Aspirin leh statin damdawi dose tlem te hian thinlung natna vei theihna a tiziaawm thei a ni.
• Imaging test (e.g., Magnetic Resonance Imaging - MRI): Doctor chuan MRI ang chi imaging test hmangin stroke a zawng a, a nih loh leh lu na emaw, seizure emaw a awm fo thin.
• Mit enfiah fo thin: I fa hian mit lama harsatna a nei thei a, chu chu mit hmuh hnai emaw mit vawt emaw a ni thei. Mitmeng a khar kim loh avangin mit ro a awm thei. Natna a zual zel chuan naupang hian mitdelna (cataract) a nei thei bawk. Mitmeng leh mitmeng chu a hring emaw, a bo emaw pawh a ni thei. Hei hian bawlhhlawh leh bawlhhlawh mit chhungah a luh theihna a tipung a ni. Tin, naupang hian êng lakah sensitivity nasa tak a nei thei bawk. Chuvangin, a chang chuan sunglass vuah a ngai mai thei.
• Hriatna test: 1.1.Naupang chuan hriatna hloh a nei thei. Chungte chu hearing aid hmangin siamthat theih a ni.
• Ha enfiah fo: I fa hian ha lam harsatna a nei tam zawk a, chu chu ha zung (cavities), mipui tamna, ha chhuah tlai, leh ha zung (gams) hnungtawlh te hi a ni. Ha enkawltu pan fo hian heng harsatnate hi enfiah leh enkawl a pui thei a ni.
• Vun lama harsatna: Doctor chuan naupang vunah hmun dum emaw, bump emaw a awm leh awm loh a en reng ang. Tin, sam tlakchham, hnim hring, leh vun thim (chu chuan chetna a tikhawtlai thei a, thawk lak emaw, ei tur ei harsa emaw a siam thei) an zawng bawk ang.
• Bone health monitoring: Naupang hian ruh than leh thanlenna nena inzawm harsatna engemaw zat a tawk thei. Tin, ruhkawr harsatna an tawk thei bawk.

I naute hian a seilian theih nan nutrition a mamawh tawk a ni. Supplemental nutrition (feeding tube ang chi) a mamawh mai thei. I naute tui tam tak (tui pek) neih hian thluak lama harsatna awm nghal mai theihna a ti tlem thei a ni. I naute doctor nen calorie leh hydration tling tak neih theihna tur kawng hrisel chungchang sawipui rawh.

Progeria hi ven theih a ni em?

Progeria hi genetic condition hmuh tur awm lo tak a ni a, ven theih a ni lo. Gene mutation thar avanga lo awm a ni tlangpui. Hei hian random takin a thleng tihna a ni. Chhungkaw hrang hrangah a dinhmun a kal tlangpui loh avangin sawi lawk a harsa hle. Mahse, naupang pakhat Progeria vei i neih chuan naupang dangin he natna hi an vei theihna chance a sang deuh a ni. I risk hriat nan genetic testing i ngaihtuah mai thei.

Progeria vei dam rei zawng chu engzat nge ni ang?

Progeria hi thihna thlentu a ni a, a hun hmaa thihna thlentu a ni. Progeria vei dam rei zawng chu kum 14.5 vel a ni. Amaherawhchu, naupang thenkhat chu kum 6 mi lek an thi. Tin, Progeria vei thalai thenkhat chu kum 20 hnuai lam thlengin an dam thei bawk.

Thihna hi `Atherosclerosis` natna avanga harsatna awm vang a ni tlangpui. Thi zinga 80% aia tam chu `heart failure` leh/ emaw `heart attack` vang a ni. Damdawi `lonafarnib` hmanga enkawl hian rah tha tak a chhuah a. `Progeria` vei te dam rei zawng chu kum hnih leh a chanve velin a tisei a ni.

Ka fa hian Progeria a vei a nih chuan ka fa dangte pawhin an vei dawn em ni?

Progeria hi genetic mutation hmuh tur awm lo tak avanga lo awm a ni a, chhungkuaah a kal tlangpui lo. Progeria natna vei fa neih theihna chance zawng zawng chu maktaduai 4 zinga 1 vel a ni. Mahse, Progeria vei fa pakhat i neih chuan naupang dangin an neih a rinawm loh.Chance a sang zawk a, 2% leh 3% inkar a ni. Hei hi mosaicism an tih condition vang a ni. Mosaicism-ah chuan nu leh pa pakhata cell za zela tlemte chuan Progeria gene mutation an nei a, mahse chu nu leh pa chuan natna chu a nei lo. I fain Progeria a vei a nih chuan naupang dangin he natna hi an vei theihna tur a awm em tih hriat nan genetic testing neih i ngaihtuah mai thei.

Ka fa hian Progeria a vei a nih chuan engtin nge ka enkawl ang?

I fain Progeria a vei a nih chuan a theih ang anga in chhung boruak siam tum ang che. I fa chu a theih ang anga thiltih tam takah tel tir rawh. Mahse, i chhungkuaa naupang dangte chu ngaihsakna tlachham angin inhriat tir suh.

Chhungkaw pum pui hnenah Progeria vei i fa chu kum engemaw zat chauh a dam dawn tih i sawi hian rinawm mahse kum nena inmil takin sawi rawh. Counselling session hi dinhmun tam takah a \angkai thei hle.

Tin, mi thenkhatin mak an tih dan tur leh an en dan tur chu i fa hnenah sawipui bawk ang che. Miin mak tak maia a en emaw, a sawi ri emaw a nih chuan engtin nge an chhân lêt tûr tih chu i fa chu sawipui rawh.

Progeria vei naupang chu sikul a kal thei ang em?

Progeria vei naupang tam tak chu sikul an kal thin. Anni chuan an tel kim vek theih nân, an hlim theih nân leh an him theih nân awmna hmun an mamawh mai thei. I fate sikul enkawltu te, nurse te, therapist te leh zirtirtu te nen in inhmu fo tur a ni. Hei hian mi tinte chu i fa mamawh phuhruk turin a pui ang. Hei hian ruahmanna siam a, i fain sikula emergency care a mamawh a nih chuan (entir nan, thawk harsatna emaw, rilru na tak emaw a neih thut chuan) mi zawng zawng hnena sawi chhuah a huam a ni.

`Neonatal progeria` tih hi eng nge ni?

Hutchinson-Gilford progeria syndrome bakah hian natna dang engemaw zat a awm a, chu chuan tar hma lutuk a thlen thei a ni. Chungte chu progeroid syndrome an ti a. Neonatal progeria, neonatal progeroid syndrome tia hriat bawk hi chutiang zinga mi a ni. Wiedemann-Rautenstrauch syndrome tia hriat bawk, ​​he natna hian a thang chak lo va, vun a ti hrual bawk. Mahse, neonatal progeroid syndrome hi autosomal recessive angin a inherit a ni. Hei hian a awmzia chu cell tinah mutated gene copy pahnih inherit a nih chauhvin disorder hi a lo awm tihna a ni.

I fain Progeria a vei tih hriat chu a buaithlak thei a, a buaithlak thei bawk. I fa doctor chuan nang leh i chhungte chu natna hmuhchhuah chu i hmachhawn theih nan a pui thei che a ni. Natna zual zel tur tikhawtlai thei enkawlna kawng hrang hrangte hriatthiamna kawngah pawh a pui thei bawk. Progeria ang chi naupang genetic condition nei nu leh pa tam tak chuan support group hi an \angkai hle niin an hria. Zawhna zawh te, chhungkaw dang thil tawn hriat te hian thlamuanthlak tak a ni thei a, nangmah chauh ni lo ang maiin i inhriat theih nan a pui thei bawk.

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

Progeria hi a tlem hle a, mahse nunna atana hlauhawm tak a ni a, fimkhur a pawimawh hle.

• Hei hi genetic disease a ni: gene mutation lo awm thar avanga lo awm a ni fo.
• Tar chak lutuk hi a chhinchhiahna ber a ni: Naupang pianhmang, vun leh ruh ang chi thilte hi a upa chak hle.
• Thiamna a nghawng lo: Heng naupangte finna level hi thil pangngai a ni.
• Enkawlna a awm a, mahse a damdawi erawh a awm lo: Lonafarnib ang damdawi hian natna zual zelna a tikhawlo thei a, dam rei zawng a tisang thei bawk. Mahse a damdawi kimchang erawh hmuh a la ni lo.
• Naupang hmangaihna leh thlawpna hi a pawimawh hle: naupang chu nun pangngaia nunpui tura tanpui te, amah hriatthiamna te, leh damdawi inenkawlna tul tak tak pek te hi a pawimawh hle.
• Nangmah chauh i ni lo: chutiang dinhmun nei chhungkaw dangte chu biak la, ṭanpuina la la, doctor-te hnen aṭangin thurawn la rawh.

He thu hi in tan a tangkai ngei ka beisei. Ringhlelna i neih chuan Doctor rawn la theihnghilh suh.

` Progeria, genetic natna, tar hma lutuk, LMNA gene, lonafarnib, naupang hriselna, natna hmuh tur awm lo