Tin, tar hma lutuk chhinchhiahna i nei bawk em? Werner Syndrome chungchang hi han sawi ila!

I kum aia upa zawkin i lang em? Chutianga inhriat chu a chang chuan thil pangngai a nih laiin, tar hma lutuk emaw, taksa tar chak zawk emaw hi a takah chuan genetic condition hmuh tur awm lo vang a ni thei. Chutiang dinhmun pakhat chu Werner Syndrome a ni. Hemi chungchang hi vawiinah hian chipchiar deuhin han sawi ila, a chhan chu hriat chian a pawimawh em em a ni.

Werner Syndrome hi eng nge ni?

A awlsam zawngin Werner Syndrome hi genetic disorder awm lo tak a ni a, i taksa chu beisei aia rang zawkin a tipung a ni. Mi thenkhat chuan ‘adult progeria’ an ti. Symptoms hi puberty i thlen hma loh chuan a lang lo tlangpui. Chu chu i ṭhiante ang bawka i ṭhan chak loh hunah danglamna i hmu ṭan dawn tihna a ni. Tichuan, kum 20 i tlin chuan tar lam natna lan chhuah dan - leh, hun kal zelah, kum upat ruala lo awm natna te pawh i nei tan ang.

Mahse hei hi sam dum leh vun hring (sagging skin) chauh a ni lo. Tar hi hmel danglam mai a ni lo. Werner Syndrome vei tam tak chuan kum 40 leh 50 vel an nih chuan nunna atana hlauhawm tak tak harsatna an nei thin.

Heng symptoms te hi engte nge ni?

Werner Syndrome i neih chuan i upat deuh deuh chuan a symptoms a langsar zual thin. I kum rualpui dangte aiin tar chakna chhinchhiahna i hmu hma thei a, kum 20 i tlin chuan. Chung zinga ṭhenkhat chu hetiang hi a ni:

Hmuh dan a inthlak danglam thin

• Sam dum leh sam tlakchham: Hei hian lu chunga sam chauh ni lovin, mitmeng leh mitmeng pawh a huam tel bawk.
• Aw chu a sang emaw, a ri chhuak emaw.
• Subcutaneous adipose tissue tlahniam: Hei hian vun a ti hlim thei hle.
• Muscle atrophy a awm.
• Ha hring hma lutuk.
• Vun hmun thenkhat a thim (hyperpigmentation) emaw hmun thenkhat a eng (hypopigmentation) emaw a ni.
• Thisen kalna kawng (dilated blood vessels) avanga vun sen.
• Skin thickening or hardening: Hei hi scleroderma an tih natna nen hian a inang deuh hlek a ni.
• A pinched, distressed hmel lan dan.

Taksa chhung atanga lo chhuak hriselna lama harsatna dang

Werner Syndrome nen chuan tar ang maiin i lang lo. I taksa chu i kum tak tak aiin a tar chak zawk tak zet a ni. Hei hian beisei aia hmain hriselna lama harsatna dang i nei thei tihna a ni. Chung zingah chuan:

• Type 2 diabetes: Dik tak chuan Werner Syndrome vei mi 10 zinga 7 vel chuan kum 35 an tlin chuan type 2 diabetes an vei thin.
• Hypogonadism (ovary emaw testicles emaw a hnathawh theih lohna).
• Vun ulcer awm thei.
• Osteoporosis (ruh hring hring).
• Atherosclerosis natna a ni.
• Mit (cataract) emaw, mit (macular degeneration) emaw a awm thei.
• A rilru a na (angina).
• Myocardial infarction a awm thin.
• Heart failure `(thinlung tha lo)`.

Cancer vei theihna a ni

Werner Syndrome vei te hian cancer chi hrang hrang an vei theihna a sang hle. Entir nan:

• Thyroid cancer a ni.
• Melanoma (vun cancer) a ni.
• Osteosarcoma (ruh cancer) natna a ni.
• Tissue nem tak sarcoma a awm.

Eng thilin nge Werner Syndrome hi a thlen?

Hei hi genetic disorder a ni a . Chu chu kan genes-a mutations avanga lo awm a ni tihna a ni. Werner Syndrome hi WRN gene-a chhiatna pahnih neiah a awm thin. A tlangpuiin heng gene chhia pahnih zinga pakhat hi nu atanga rochun a ni a, pakhat zawk chu pa hnen atanga rochun a ni.

Engtin nge hei hi i hmuh? (Diagnosis) tih a ni.

I doctor chuan Werner Syndrome hriat theihna tur criteria thenkhat a zawng ang. Heng test te hi an order thei bawk:

• Genetic test: Werner Syndrome thlentu gene a inthlak danglam leh awm loh enfiah thin ang che.
• X-ray: Ruh danglam emaw, tumor emaw a awm leh awm loh enfiah thin.

Doctor-te chuan Werner Syndrome hi kum 15 mi lek aṭangin an hmuchhuak thei ṭhin. Mahse, diagnosis hi kum 30 emaw 40 emaw vel a ni fo. Hei hi a chhan chu natna lan chhuah dan chiang tak tak thenkhat chu chutiang hun rei tak chu a lo lang thin vang a ni.

Enkawlnate chu engte nge ni?

Werner Syndrome hi a natna lan chhuah dan a zirin enkawl a ni. Chumi awmzia chu enkawlna pakhat hian mi zawng zawng tan a thawk vek lo tihna a ni. Specialist engemaw zatin i enkawlna tur ruahmanna siam turin an thawk ho thei a ni. Entir nan:

• Endocrinologist (hormone lama mithiam) te an ni.
• Mit lam doctor ( mit lama mithiam) te.
• Orthopedist (ruh leh ruhkawr lam thiam) te.

Enkawlna i dawnte chu:

• Zunthlum damdawi: I thisen sugar level control rawh.
• Glasses emaw contact lens emaw: Mit lama harsatna awmte siamthat.
• Lung natna damdawi: 1.1.Atherosclerosis control-in harsatna awm thei tihziaawm.
• Surgery: Cancer natna a awm chuan paih chhuak tur a ni.

Werner Syndrome hi ven theih a ni em?

Hei hi genetic condition a nih avangin vanduaithlak takin Werner Syndrome hi ven theih a ni lo.

Mahse, nang leh i kawppui hi he natna atana gene kengtu in nih ve ve a, fa neih i duh bawk a nih chuan preimplantation genetic testing (PGT) tih tih dan tur ngaihtuah i duh mai thei. PGT hi genetic testing leh in vitro fertilization (IVF) te inzawmkhawm a ni. Hei hian nausen (embryos) te hi nausen pum chhunga dah hmaa test a, naupangte hian heng genetic defects te hi an rochun theihna tur a tihtlem phah a ni. Mahse, hengte hi kalphung buaithlak deuh a nih avangin thutlukna siam tur chu damdawi lam thurawn chauh a ni tur a ni.

I doctor hnenah eng nge zawh belh i duh ang?

Werner Syndrome i vei a nih chuan i doctor hnenah zawhna i neih zawng zawng zawh vek a pawimawh. Entîr nân, hetiang hi i zâwt thei ang:

• Werner Syndrome hi ka tan chuan genetic test neih hi a tha em?
• Werner Syndrome enkawl dan tur chu engte nge ni?
• Cancer ka vei theihna tur tihtlem nan eng nge ka tih ang?
• Werner Syndrome natna avanga harsatna awm lo turin eng screening nge ka neih ang?
• Ka fate hian ka hnen atanga Werner Syndrome an rochun theihna chance engzat nge awm?
• Werner Syndrome vei fa dang ka neih theihna chance engzat nge awm?

Eng dinhmun dang nge hetiang chhinchhiahna nei?

Werner Syndrome bakah hian natna dang engemaw zat a awm a, chu chuan kum tawi leh tar hma lutuk a thlen thei a ni. Chung zingah chuan:

• De Barsy natna a ni
• Gottron natna a ni
• Hutchinson-Gilford syndrome (hei hi naupang tê tê vei thei Progeria chi khat a ni) .
• Mulvihill-Smith natna a ni
• Rothmund-Thomson natna a ni
• Thlipui tleh (storm syndrome) a ni

Heng zawng zawng hi thil awm lo tak tak a nih avangin diagnosis dik tak neih a pawimawh hle.

Werner Syndrome chungchang history tlem leh engtiang chiahin nge a hluar?

Werner Syndrome hi kum 1900 chho vela doctor pakhat Otto Werner-a’n a hmuhchhuah hmasak ber a ni. Damlo naupangte zinga a symptom pahnih a hmuh hmasak ber chu mitdel leh vunah a hring hring, a dum hring hring a ni.

Hei hi thil awm lo tak a ni. Kum 1904-a he natna report hmasa ber tihchhuah a nih atang khan medical journal-ah mi 800 vel chauh report a la ni.

United States-ah chuan mithiamte chuan mi 200,000 zinga pakhat velin Werner Syndrome an vei thei niin an chhut. Khawvel pumah hian a vei zat hi maktaduai khatah pakhat vel chauh a ni.

Mahse, Japan ramah leh Italy ram Sardinia bialah a tam zawk. Chutah chuan mi 30,000 emaw 50,000 emaw zinga pakhat velin he natna hi an nei a ni. A chhan chu chutiang hmuna mi tam tak chuan thlah kalta atanga lo awm tawh, genetic mutation an rochun vang a ni.

Nangmah emaw, i hmangaih tak emaw Werner Syndrome vei tih hriat chu thil harsa tak a ni thei. Damdawi a awm loh avangin a lungchhiatthlak thei hle. Mahse, enkawlna hian nunna atana hlauhawm harsatna a thlen theihna a ti tlem thei a ni.

A tawp berah chuan take-home message chu

Werner Syndrome hi natna khirh tak a ni tak zet a, mahse, nangmah chauh i ni lo tih hre reng ang che.

• Damdawi lam enkawlna leh thurawn dik tak dawng rawh: Hei hian i natna lan chhuah dan tur a enkawl ang che a, i nunphung pawh a ti \ha ang.
• Nunphung hrisel zawm rawh: Mut tam la, eitur tha tak tak ei la, ni chhuahna hmuna i chhuah dawnin sunscreen hmang la, stress tihziaawm tum ang che. Heng thilte hian hrisel taka awm turin a pui ang che.
• Support zawng rawh: I medical team-te hnenah support group chungchang zawt rawh. Tunah hian pressure nasa tak i nei lo mai thei, mahse chu thu chu i kutah dah la. Nakin lawkah a \angkai hle mai thei.

Hetiang natna hlauhawm tak nena khawsak hi thil awlsam a ni lo. Mahse hriatna dik, thlawpna leh rilru tha tak i neih chuan he zinkawng zawh tur hian chakna i hmu ang.

` Werner syndrome, genetic diseases, tar hma lutuk, puitling progeria, WRN gene, hriselna lama harsatna, cancer hlauhawmna