Yam koj yuav tsum paub txog Rothmund-Thomson Syndrome (RTS)!

Koj puas txhawj txog koj tus menyuam daim tawv nqaij lossis plaub hau poob? Qee zaum, cov tsos mob no tuaj yeem tshwm sim los ntawm ib qho mob tsis tshua muaj. Ib qho mob zoo li no yog Rothmund-Thomson Syndrome , lossis (RTS) luv luv. Lub npe yuav suab nyuaj me ntsis, tab sis cia peb ua kom yooj yim thiab nkag siab.

Rothmund-Thompson Syndrome (RTS) yog dab tsi?

Hais yooj yim xwb, Rothmund-Thompson syndrome yog ib yam mob uas qee tus menyuam yug los muaj. Nws yog ib yam mob caj ces. Uas yog, nws yog los ntawm kev hloov pauv ntawm ib qho ntawm cov noob caj ces me tshaj plaws hauv peb lub cev. Qhov mob no tuaj yeem cuam tshuam rau ntau qhov ntawm lub cev ntawm tus menyuam. Nws feem ntau cuam tshuam rau daim tawv nqaij, plaub hau, hniav, pob txha, qhov muag, thiab kev xeeb tub. Qee zaum, cov menyuam no muaj kev hloov pauv ntawm qhov loj me thiab cov duab ntawm cov khoom xws li lawv txhais tes, taw, thiab xib teg.

Leej twg muaj tus mob no? Nws tshwm sim ntau npaum li cas?

Kab mob Rothmund-Thompson yog ib qho kab mob uas tau txais los ntawm noob caj noob ces . Qhov no txhais tau tias yog tias ob leeg niam txiv muaj kev hloov pauv hauv ib qho noob caj noob ces tshwj xeeb, lawv tus menyuam yuav muaj tus kab mob no.

Tiamsis tsis txhob txhawj, qhov no yog ib qho mob tsis tshua muaj . Tsuas muaj li ntawm 300 tus neeg mob thoob ntiaj teb tau tshaj tawm. Yog li ntawd, nws tsis yog ib yam dab tsi uas tshwm sim rau txhua tus.

Puas muaj lwm lub npe rau qhov no? Yog, qee zaum nws kuj hu ua '(poikiloderma congenitale)'.

Tus mob Rothmund-Thompson syndrome yuav cuam tshuam li cas rau kuv tus menyuam?

Tus mob no (RTS) tuaj yeem ua rau muaj qee qhov kev hloov pauv hauv txoj kev loj hlob thiab kev loj hlob ntawm tus menyuam. Cia peb saib seb qhov feem ntau tshwm sim li cas:

• Tawv nqaij ua pob khaus: Tej zaum yuav muaj pob khaus liab tshwm sim, tshwj xeeb tshaj yog rau ntawm sab plhu.
• Plaub hau poob los yog nyias: Tej zaum yuav muaj plaub hau poob ntawm lub taub hau, nrog rau plaub muag thiab pob muag poob.
• Kev hloov pauv ntawm qhov muag: Tej zaum yuav muaj qee qhov teeb meem ntawm qhov muag.
• Cov hniav tawm qeeb: Cov hniav yuav tshwm sim lig dua li lwm tus menyuam.
• Cov yam ntxwv ntawm lub ntsej muag: Tej zaum koj yuav pom cov yam ntxwv xws li lub qhov ntswg me me thiab lub puab tsaig qis tawm los.

Rothmund-Thompson Syndrome cuam tshuam li cas rau lub cev

Qhov mob caj ces no muaj peev xwm cuam tshuam rau tib neeg ntau txoj kev sib txawv. Qhov no txhais tau tias tsis yog txhua tus yuav muaj cov tsos mob zoo ib yam. Cia peb saib seb nws cuam tshuam li cas rau ntau yam kab mob hauv lub cev.

Tawv nqaij

Cov menyuam mos uas muaj tus mob no feem ntau yuav muaj pob khaus ntawm lawv lub ntsej muag thaum muaj hnub nyoog 3 txog 6 lub hlis. Cov pob khaus no tom qab ntawd tuaj yeem kis mus rau caj npab, ceg, thiab pob tw. Cov pob khaus no kuj hu ua "poikiloderma." Nws yog kev sib xyaw ua ke ntawm cov tsos mob xws li daim tawv nqaij hloov xim, cov hlab ntsha pom, thiab daim tawv nqaij nyias nyias.

Qhov tseem ceeb tshaj plaws, cov menyuam no muaj feem yuav mob qog nqaij hlav ntawm daim tawv nqaij ('Basal cell carcinoma' thiab 'Squamous cell carcinoma'). Yog li ntawd, kev tiv thaiv tshav ntuj thiab kev kuaj xyuas daim tawv nqaij tsis tu ncua yog qhov tseem ceeb heev.

Cov plaub hau

Cov menyuam no tej zaum yuav muaj cov plaub hau ntawm lub taub hau me me heev. Lawv kuj tseem yuav muaj ob peb daim plaub muag lossis pob muag xwb los yog tsis muaj li.

Cov hniav

Cov menyuam yaus uas muaj tus kab mob Rothmund-Thompson syndrome tej zaum yuav poob hniav, muaj cov hniav tsis zoo, lossis muaj cov hniav uas tuaj lig heev. Lawv kuj muaj feem yuav muaj cov qhov hniav lwj ntau dua. Yog li ntawd, nws yog ib lub tswv yim zoo kom koj tus kws kho hniav kuaj koj cov hniav tsis tu ncua.

Qhov muag

Cov menyuam yaus uas muaj tus mob caj ces no muaj feem yuav mob cataracts ntau dua, feem ntau yog hnub nyoog ntawm 3 thiab 7 xyoo. Mob cataracts yog qhov ua rau lub lens hauv lub qhov muag puas. Qhov no tuaj yeem ua rau pom kev tsis meej.

Cov pob txha

Tej zaum yuav muaj qee qhov kev hloov pauv ntawm cov pob txha. Cov pob txha yuav me dua li qub, tej zaum yuav sib koom ua ke, lossis qee cov pob txha yuav ploj lawm. Tsis tas li ntawd, cov pob txha nyias thiab tuaj yeem tawg yooj yim (tawg).

Lub cev zom zaub mov (Gastrointestinal)

Cov menyuam mos uas muaj RTS yuav muaj teeb meem noj mov. Ntuav thiab raws plab kuj yog ib qho uas pom ntau.

Cov kab ke ntshav (Hematologic)

Cov menyuam no feem ntau muaj mob xws li ntshav tsis txaus thiab cov qe ntshav dawb tsawg. Cov qe ntshav dawb yog ib hom qe ntshav hauv peb lub cev uas tawm tsam kab mob.

Kev loj hlob

Cov menyuam mos no tej zaum yuav yug los nrog qhov hnyav tsawg thiab luv. Coob leej neeg uas muaj tus kab mob Rothmund-Thompson syndrome yuav luv dua li tus neeg ib txwm thoob plaws lawv lub neej.

Kev muaj menyuam

Rau cov poj niam, tej zaum yuav muaj hli tsis zoo li qub.

Cov teeb meem ntawm Rothmund-Thompson syndrome yog dab tsi?

Qhov no yog ib yam uas peb yuav tsum txhawj xeeb tshaj plaws. Cov menyuam yaus uas muaj (RTS) muaj feem yuav mob qog noj ntshav ntau dua. Cov tseem ceeb yog:

• Mob qog nqaij hlav pob txha (Osteosarcoma)
• Lymphatic leukemia, ib hom mob qog ntshav
• Lymphoma (mob qog nqaij hlav ntawm lub cev lymphatic)
• Mob qog nqaij hlav ntawm daim tawv nqaij ('Basal cell carcinoma' thiab 'Squamous cell carcinoma')

Yog li ntawd, nws yog ib qho tseem ceeb heev uas yuav tsum tau coj cov menyuam no mus kuaj mob tsis tu ncua thiab ceev faj txog mob qog noj ntshav.

Dab tsi ua rau muaj tus mob Rothmund-Thompson syndrome?

Rothmund-Thompson syndrome yog tshwm sim los ntawm kev hloov pauv hauv cov noob 'ANAPC1' lossis 'RECQL4'.Muaj ib txhia neeg uas muaj RTS tau txais qhov kev hloov pauv no los ntawm lawv niam thiab txiv. Piv txwv li, yog tias koj thiab koj tus khub yog cov neeg nqa cov kev hloov pauv no, koj tus menyuam muaj 1 ntawm 4 txoj kev pheej hmoo ntawm kev muaj RTS.

Txawm li cas los xij, tsis yog txhua tus neeg uas muaj RTS muaj qhov kev hloov pauv ntawm cov noob caj noob ces no. Cov kws tshawb fawb tseem tab tom tshawb nrhiav seb vim li cas qee tus neeg thiaj li muaj RTS yam tsis muaj kev hloov pauv hauv cov noob caj noob ces 'ANAPC1' lossis 'RECQL4'.

Cov tsos mob ntawm Rothmund-Thompson syndrome yog dab tsi?

Cov tsos mob ntawm Rothmund-Thompson syndrome feem ntau tshwm sim hauv thawj xyoo ntawm lub neej. Txawm li cas los xij, cov tsos mob sib txawv ntawm ib tus neeg mus rau ib tus neeg. Qee cov tsos mob feem ntau suav nrog:

• Kab mob qhov muag
• Kev hloov pauv ntawm cov yam ntxwv ntawm lub ntsej muag (piv txwv li, lub qhov ntswg me me, lub puab tsaig qis tawm)
• Teeb meem noj mov, tshwj xeeb tshaj yog ntuav lossis raws plab tom qab haus mis lossis mis mos
• Cov pob txha ntawm caj npab, tes, lossis ceg puas tsuaj
• Cov hniav me, tsis zoo li qub, lossis ploj lawm
• Plaub hau poob los yog txo cov plaub hau loj hlob (xws li cov plaub muag thiab pob muag)
• Cov tawv nqaij tawv tawv, ntxhib (keratotic lesions - zoo li pob kws)
• Tawv nqaij ua pob khaus (poikiloderma) thiab tej zaum yuav muaj cov pob liab liab
• Kev hloov pauv ntawm daim tawv nqaij (cov pob ntawm daim tawv nqaij tsis zoo)

Cov kws kho mob kuaj mob Rothmund-Thompson syndrome li cas?

Tej zaum koj tus menyuam yuav pom cov tsos mob no. Los yog, koj tus kws kho mob yuav pom cov tsos mob no thaum mus ntsib kws kho mob menyuam yaus tas li. Yog tias koj tus kws kho mob xav tias muaj RTS, lawv yuav xaj ntau qhov kev kuaj mob kom paub meej tias muaj mob.

Cov kev kuaj twg siv los kuaj mob (RTS)?

Tus kws kho mob yuav pom zoo kom kuaj xws li:

• Kev kuaj tawv nqaij: Yog tias koj tus menyuam muaj pob khaus tawv nqaij hu ua poikiloderma, tus kws kho mob yuav muab ib daim tawv nqaij me me coj mus kuaj. Cov kws kho mob tshwj xeeb (pathologists) yuav kuaj daim tawv nqaij no hauv lub tshuab microscope kom pom tias puas muaj kev hloov pauv hauv cov hlwb tawv nqaij.
• Kev kuaj noob caj noob ces: Qhov no yog kev kuaj ntshav. Nws tuaj yeem ntes tau seb puas muaj kev hloov pauv hauv cov noob caj noob ces 'ANAPC1' lossis 'RECQL4'. Qhov no tuaj yeem lees paub (RTS). Tab sis nco ntsoov, tsis yog txhua tus menyuam uas muaj (RTS) muaj qhov kev hloov pauv noob caj noob ces no.

Yuav kho tus mob Rothmund-Thompson li cas?

Tu siab kawg li, cov kws kho mob tsis tuaj yeem kho tau tag nrho Rothmund-Thompson syndrome. Tab sis lawv tuaj yeem kho cov tsos mob. Kev kho mob rau (RTS) nyob ntawm koj tus menyuam cov tsos mob. Koj tus kws kho mob yuav nrog koj tham txog kev kho mob uas tuaj yeem pab kom koj tus menyuam noj qab nyob zoo.

Nyob ntawm seb koj tus menyuam cov tsos mob thiab hnub nyoog li cas, cov kws kho mob yuav pom zoo kom siv cov kev kho mob xws li:

• Kev phais mob cataract kom pom kev zoo dua.
• Yog tias muaj cov pob txha txawv txav, lawv tuaj yeem kho tau nrog kev phais pob txha tshwj xeeb ('Orthopedic surgeries') .
• Kev tiv thaiv los ntawm lub hnub ci muaj zog(siv tshuaj pleev thaiv hnub, hnav kaus mom) thiab kuaj xyuas koj daim tawv nqaij tsis tu ncua .
• Mus kuaj hniav tsis tu ncua thiab kho hniav kom rov zoo yog tias tsim nyog.
• Kev saib xyuas mob qog noj ntshav: Qhov no txhais tau tias tsis tu ncua kuaj xyuas cov cim ntawm mob qog noj ntshav.

Puas muaj kev kho mob caj ces rau qhov no?

Tam sim no, tsis muaj kev kho mob gene uas tau pom zoo rau Rothmund-Thompson syndrome, tab sis cov kws tshawb fawb tseem txuas ntxiv tshawb nrhiav cov kev hloov pauv genetic uas cuam tshuam nrog RTS.

Kuv puas tuaj yeem tiv thaiv kuv tus menyuam kom tsis txhob loj hlob (RTS)?

Tu siab kawg li, tsis muaj ib txoj kev twg los tiv thaiv tau tus mob Rothmund-Thompson syndrome no. Nws yog ib yam mob uas los ntawm noob caj noob ces. Tej tus neeg yuav muaj tus mob no vim yog keeb kwm tsev neeg. Tej zaum nws kuj tshwm sim tau vim yog tej yam uas tsis paub meej.

Kuv yuav paub li cas yog tias kuv tus menyuam muaj feem yuav mob (RTS)?

Yog tias ib tug neeg hauv koj tsev neeg (lossis koj tus khub tsev neeg) muaj tus kab mob Rothmund-Thompson, nws yog ib qho tseem ceeb heev uas yuav tsum tau txais kev sab laj txog kev hloov pauv caj ces . Qhov no yuav pab koj kawm paub ntau ntxiv txog koj qhov kev pheej hmoo ntawm kev muaj menyuam nrog RTS. Koj thiab koj tus khub tuaj yeem kuaj ntshav kom pom tias koj puas yog tus nqa cov noob hloov pauv no.

Xav txog tias nej ob leeg muaj qhov kev hloov pauv ntawm cov noob caj noob ces no. Qhov no tsis tau txhais hais tias koj tus menyuam yuav muaj RTS. Koj tus menyuam yuav yog tus nqa cov RTS (txhais tau hais tias nws tuaj yeem xa cov noob caj noob ces mus rau nws cov menyuam yam tsis muaj tsos mob), tab sis nws kuj muaj peev xwm tias nws yuav tsis muaj tsos mob.

Yog tias kuv tus menyuam muaj (RTS) kuv yuav tsum tau tos li cas?

Cov kws kho mob yuav saib xyuas koj tus menyuam kom zoo zoo ('kev saib xyuas'). Vim tias cov menyuam yaus uas muaj (RTS) muaj feem yuav mob qog noj ntshav ntau dua, tus kws kho mob yuav kuaj xyuas cov cim ntawm cov qog noj ntshav no tas li.

Tej zaum koj tus menyuam yuav xav tau kev pab los ntawm cov kws tshwj xeeb los tswj qee yam ntawm lawv cov tsos mob RTS. Ntxiv rau lawv tus kws kho mob menyuam yaus ib txwm, lawv kuj tseem yuav mus ntsib kws kho qhov muag, kws kho tawv nqaij, kws kho hniav, kws kho pob txha, kws kho noob caj noob ces, thiab kws kho mob ntshav/kws kho mob qog nqaij hlav .

Kuv tus menyuam uas muaj tus mob Rothmund-Thompson syndrome yuav muaj sia nyob ntev npaum li cas?

Feem ntau cov menyuam yaus uas muaj tus kab mob Rothmund-Thompson muaj lub neej yav tom ntej zoo. Lawv lub tswv yim kuj zoo li qub. Cov neeg uas muaj tus kab mob (RTS) uas tsis mob qog noj ntshav muaj sia nyob ntev li qub.

Kuv yuav saib xyuas kuv tus menyuam uas muaj tus mob Rothmund-Thompson li cas?

Nrog koj tus kws kho mob tham txog cov tsos mob ntawm koj tus menyuam tas li. Tus kws kho mob yuav pom zoo kom nrhiav kev pab los ntawm cov kws tshwj xeeb.

Qhia rau koj tus kws kho mob tam sim ntawd yog tias koj pom muaj cov pob tshiab lossis cov qog ntawm koj tus menyuam daim tawv nqaij, tshwj xeeb tshaj yog tias lawv hloov xim lossis cov qauv. Tsis tas li ntawd, qhia rau koj tus kws kho mob yog tias koj pom muaj o lossis cov qog ntawm koj tus menyuam caj npab lossis ceg, lossis yog tias koj tus menyuam yws tias mob.

Cov Lus Qhia Txog Kev Coj Mus Tsev

Rothmund-Thompson syndrome yog ib yam mob caj ces uas qee tus menyuam yug los muaj. Nws ua rau daim tawv nqaij khaus, plaub hau, pob txha, thiab hniav hloov pauv. Nws kuj ua rau muaj kev pheej hmoo ntawm mob qog noj ntshav. (RTS) kho tsis tau, tab sis cov tsos mob tuaj yeem kho tau. Tham nrog koj tus kws kho mob txog cov hau kev los pab koj tus menyuam kom muaj lub neej noj qab haus huv. Tsis txhob txhawj, qhov mob no tuaj yeem tswj tau nrog kev qhia thiab kev saib xyuas kho mob kom zoo.

Rothmund -Thomson Syndrome, RTS, poikiloderma, kev mob caj ces, pob khaus ntawm daim tawv nqaij, plaub hau poob, kev pheej hmoo ntawm mob qog noj ntshav