Koj puas muaj cov cim qhia tias koj laus ua ntej lub sijhawm? Cia peb tham txog Werner Syndrome!

Koj puas xav tias koj zoo li laus dua li koj lub hnub nyoog? Txawm hais tias nws yog ib txwm muaj los xav li ntawd qee zaum, kev laus ua ntej lub sijhawm, lossis lub cev laus sai dua, qhov tseeb tiag yog los ntawm ib qho mob caj ces tsis tshua muaj. Ib qho mob zoo li no yog Werner Syndrome. Cia peb tham txog qhov no kom meej me ntsis hnub no, vim nws tseem ceeb heev uas yuav tsum paub txog nws.

Werner Syndrome yog dab tsi?

Hais yooj yim xwb, Werner Syndrome yog ib qho mob caj ces uas tsis tshua muaj uas ua rau koj lub cev laus sai dua li qhov xav tau. Ib txhia neeg hu nws ua 'adult progeria'. Cov tsos mob feem ntau tsis tshwm sim kom txog thaum koj mus txog hnub nyoog laus. Qhov ntawd txhais tau tias koj yuav pib pom qhov txawv thaum koj tsis loj hlob sai li koj cov phooj ywg. Tom qab ntawd, thaum koj muaj 20 xyoo, koj yuav pib pom cov tsos mob ntawm kev laus - thiab, dhau sijhawm, cov kab mob uas los nrog kev laus.

Tiamsis qhov no tsis yog hais txog cov plaub hau dawb thiab daim tawv nqaij sagging xwb. Kev laus tsis yog hais txog kev hloov pauv qhov tsos xwb. Muaj ntau tus neeg uas muaj Werner Syndrome muaj teeb meem txaus ntshai rau lub neej thaum lawv muaj hnub nyoog 40 thiab 50 xyoo.

Cov tsos mob no yog dab tsi?

Thaum koj muaj Werner Syndrome, cov tsos mob yuav pom tseeb dua thaum koj laus zuj zus. Tej zaum koj yuav pib pom cov cim qhia tias koj laus ua ntej lwm tus hnub nyoog koj, thaum koj muaj 20 xyoo. Nov yog qee cov ntawm lawv:

Kev hloov pauv ntawm qhov tsos

• Cov plaub hau dawb thiab poob plaub hau: Qhov no tsis yog tsuas yog suav nrog cov plaub hau ntawm lub taub hau xwb, tab sis kuj suav nrog cov pob muag thiab cov plaub muag.
• Lub suab nrov dhau los yog qis dhau.
• Txo cov ntaub so ntswg subcutaneous adipose: Qhov no tuaj yeem ua rau daim tawv nqaij zoo li sag.
• Cov leeg nqaij qaug zog.
• Cov hniav lwj ua ntej lub sijhawm.
• Qee qhov chaw ntawm daim tawv nqaij tsaus zuj zus (hyperpigmentation) lossis qee qhov chaw sib dua (hypopigmentation).
• Liab ntawm daim tawv nqaij vim yog cov hlab ntsha nthuav dav.
• Tawv nqaij du lossis tawv: Qhov no zoo ib yam li mob hu ua scleroderma.
• Lub ntsej muag raug nias, ntxhov siab.

Lwm yam teeb meem kev noj qab haus huv uas los ntawm sab hauv lub cev

Nrog Werner Syndrome, koj tsis yog tsuas yog zoo li laus xwb. Koj lub cev yeej laus sai dua li koj lub hnub nyoog tiag tiag. Qhov no txhais tau tias koj kuj tseem yuav muaj lwm yam teeb meem kev noj qab haus huv ua ntej dua li qhov xav tau. Cov no suav nrog:

• Kab mob ntshav qab zib hom 2: Qhov tseeb, kwv yees li 7 ntawm 10 tus neeg uas muaj Werner Syndrome tau mob ntshav qab zib hom 2 thaum muaj hnub nyoog 35 xyoos.
• Hypogonadism (tsis muaj peev xwm ua haujlwm hauv zes qe menyuam lossis noob qes).
• Cov qhov txhab ntawm daim tawv nqaij.
• Osteoporosis (kev ua kom cov pob txha nyias).
• Kab mob Atherosclerosis.
• Cataracts los yog macular degeneration.
• Mob hauv siab (angina).
• Kev mob plawv nres.
• Lub plawv tsis ua haujlwm '(lub plawv tsis ua haujlwm)'.

Kev pheej hmoo ntawm mob qog noj ntshav

Cov neeg uas muaj tus kab mob Werner Syndrome muaj feem yuav mob qog noj ntshav ntau dua. Piv txwv li:

• Mob qog nqaij hlav.
• Melanoma (mob qog nqaij tawv).
• Osteosarcoma (mob qog nqaij pob txha).
• Cov nqaij mos sarcoma.

Dab tsi ua rau muaj Werner Syndrome?

Qhov no yog ib qho kev mob caj ces . Uas yog, nws yog tshwm sim los ntawm kev hloov pauv hauv peb cov noob caj ces. Werner Syndrome tshwm sim rau cov neeg uas muaj ob qhov tsis zoo hauv WRN gene. Feem ntau, ib qho ntawm ob lub noob caj ces tsis zoo no yog tau txais los ntawm niam thiab lwm qhov los ntawm txiv.

Koj nrhiav tau qhov no li cas? (Kev kuaj mob)

Koj tus kws kho mob yuav nrhiav qee yam qauv los kuaj mob Werner Syndrome. Lawv kuj tseem yuav xaj cov kev kuaj no:

• Kev kuaj noob caj noob ces: Tshawb xyuas seb puas muaj kev hloov pauv hauv cov noob caj noob ces uas ua rau muaj Werner Syndrome.
• X-rays: Xyuas seb puas muaj kev hloov pauv ntawm pob txha lossis qog nqaij hlav.

Cov kws kho mob qee zaum tuaj yeem kuaj pom Werner Syndrome thaum lawv muaj hnub nyoog li 15 xyoos. Txawm li cas los xij, feem ntau lawv kuaj pom thaum lawv muaj hnub nyoog 30 lossis 40 xyoo. Qhov no yog vim qee cov tsos mob ntawm tus kab mob no siv sijhawm ntev heev thiaj li tshwm sim.

Cov kev kho mob yog dab tsi?

Werner Syndrome raug kho raws li cov tsos mob uas tshwm sim. Qhov no txhais tau tias ib txoj kev kho mob tsis ua haujlwm rau txhua tus. Tej zaum yuav muaj ntau tus kws kho mob tshwj xeeb ua haujlwm ua ke los sib koom tes koj txoj kev npaj kho mob. Piv txwv li:

• Cov kws kho mob endocrinologist (cov kws kho mob hormones).
• Kws kho qhov muag ( kws kho qhov muag).
• Cov kws kho mob pob txha (cov kws tshwj xeeb txog pob txha thiab pob qij txha).

Cov kev kho mob uas koj tau txais yuav muaj xws li:

• Tshuaj Kho Mob Ntshav Qab Zib: Tswj koj cov ntshav qab zib.
• Cov tsom iav los yog cov iav sib cuag: Kho cov teeb meem pom kev.
• Cov tshuaj rau kab mob plawv:Txo qhov kev pheej hmoo ntawm cov teeb meem los ntawm kev tswj hwm atherosclerosis.
• Kev Phais Mob: Yog tias muaj cov qog nqaij hlav, tshem tawm lawv.

Puas tiv thaiv tau Werner Syndrome?

Vim tias qhov no yog ib qho mob caj ces, hmoov tsis zoo, Werner Syndrome tsis tuaj yeem tiv thaiv tau.

Txawm li cas los xij, yog tias koj thiab koj tus khub yog ob leeg nqa cov noob caj noob ces rau qhov mob no, thiab koj kuj xav muaj menyuam, tej zaum koj yuav xav txog ib txoj kev kho mob hu ua preimplantation genetic testing (PGT). PGT yog kev sib xyaw ua ke ntawm kev kuaj noob caj noob ces nrog rau kev ua kom cev xeeb tub hauv vitro (IVF). Qhov no suav nrog kev kuaj cov qe menyuam ua ntej lawv raug cog rau hauv lub tsev menyuam kom txo qhov muaj feem uas cov menyuam yuav tau txais cov teeb meem caj noob ces no. Txawm li cas los xij, cov no yog cov txheej txheem nyuaj me ntsis, yog li kev txiav txim siab yuav tsum tau ua raws li kev qhia ntawm kws kho mob xwb.

Koj xav nug koj tus kws kho mob dab tsi ntxiv?

Yog koj muaj tus kab mob Werner Syndrome, nws yog ib qho tseem ceeb uas koj yuav tsum nug koj tus kws kho mob txog txhua lo lus nug uas koj muaj. Piv txwv li, tej zaum koj yuav nug tej yam xws li:

• Puas yog ib lub tswv yim zoo rau kuv kom tau txais kev kuaj noob caj noob ces rau Werner Syndrome?
• Cov kev kho mob rau Werner Syndrome yog dab tsi?
• Kuv yuav tsum ua li cas thiaj li txo tau kuv txoj kev pheej hmoo ntawm mob qog noj ntshav?
• Kuv yuav tsum tau kuaj mob dab tsi kom tiv thaiv tau cov teeb meem ntawm Werner Syndrome?
• Muaj feem ntau npaum li cas uas kuv cov menyuam yuav tau txais Werner Syndrome los ntawm kuv?
• Kuv muaj feem yuav muaj lwm tus menyuam uas muaj Werner Syndrome li cas?

Lwm yam mob twg muaj cov tsos mob zoo sib xws?

Ntxiv rau Werner Syndrome, muaj ntau lwm yam mob uas ua rau lub cev luv thiab laus ua ntej lub sijhawm. Cov no suav nrog:

• De Barsy syndrome
• Gottron syndrome
• Hutchinson-Gilford syndrome (qhov no yog hom Progeria uas cuam tshuam rau cov menyuam yaus)
• Mulvihill-Smith syndrome
• Rothmund-Thomson syndrome
• Kab mob cua daj cua dub

Tag nrho cov no yog cov mob tsis tshua muaj, yog li nws tseem ceeb heev kom tau txais kev kuaj mob kom raug.

Keeb kwm me ntsis txog Werner Syndrome thiab nws muaj pes tsawg tus neeg mob?

Werner Syndrome tau pom thawj zaug thaum ntxov xyoo 1900 los ntawm tus kws kho mob hu ua Otto Werner. Ob qho tsos mob uas nws pom thawj zaug rau cov neeg mob hluas yog cataracts thiab cov tawv nqaij ci ntsa iab thiab tsaus nti.

Qhov no yog ib qho mob tsis tshua muaj. Txij li thaum thawj daim ntawv tshaj tawm txog tus kab mob no tau luam tawm xyoo 1904, tsuas muaj li ntawm 800 tus neeg mob tau tshaj tawm hauv cov ntawv xov xwm kho mob.

Nyob rau hauv Tebchaws Meskas, cov kws tshaj lij kwv yees tias yuav muaj li ib ntawm 200,000 tus neeg uas muaj tus kab mob Werner Syndrome. Thoob ntiaj teb, qhov tshwm sim tsawg kawg yog ib ntawm ib lab.

Txawm li cas los xij, nws feem ntau tshwm sim hauv Nyiv Pooj thiab hauv thaj tsam Sardinia ntawm Ltalis. Nyob ntawd, kwv yees li ib ntawm 30,000 lossis 50,000 tus neeg muaj tus mob no. Qhov laj thawj rau qhov no yog vim tias ntau tus neeg hauv cov cheeb tsam ntawd tau txais kev hloov pauv caj ces uas tau tshwm sim ntau tiam neeg dhau los.

Kev nrhiav pom tias koj lossis ib tus neeg koj hlub muaj tus kab mob Werner Syndrome yuav nyuaj heev. Nws yuav ua rau koj chim siab vim tsis muaj tshuaj kho tau. Txawm li cas los xij, kev kho mob tuaj yeem txo qhov kev pheej hmoo ntawm cov teeb meem uas yuav ua rau tuag taus.

Thaum kawg, cov lus coj mus tsev

Werner Syndrome yog ib qho mob nyuaj heev, tab sis nco ntsoov, koj tsis yog tib leeg xwb.

• Tau txais kev kho mob thiab cov lus qhia kom zoo: Qhov no yuav pab koj tswj koj cov tsos mob thiab txhim kho koj lub neej zoo.
• Ua raws li kev noj qab haus huv: Pw tsaug zog txaus, noj zaub mov zoo, siv tshuaj pleev thaiv hnub thaum koj tawm mus rau hauv lub hnub, thiab sim txo kev ntxhov siab. Cov no yuav pab koj kom noj qab haus huv.
• Nrhiav kev pab: Nug koj pab neeg kho mob txog cov pab pawg txhawb nqa. Tej zaum koj yuav tsis hnov ​​​​​​ntau qhov kev nyuaj siab tam sim no, tab sis khaws cov ntaub ntawv ntawd kom zoo. Nws yuav pab tau yav tom ntej.

Kev ua neej nyob nrog ib yam kab mob tsis tshua muaj li no tsis yooj yim. Tab sis nrog kev paub zoo, kev txhawb nqa, thiab tus cwj pwm zoo, koj yuav pom lub zog los taug txoj kev no.

Werner syndrome, cov kab mob caj ces, kev laus ua ntej lub sijhawm, cov neeg laus uas muaj progeria, WRN gene, teeb meem kev noj qab haus huv, kev pheej hmoo ntawm mob qog noj ntshav