Koj puas tau pom ib yam dab tsi txawv txawv txog koj tus me nyuam lub ntsej muag? Tej zaum nws ob lub qhov muag nyob deb me ntsis, lossis nws lub caj dab luv me ntsis... Yog tias koj tus menyuam txoj kev loj hlob zoo li qeeb me ntsis nrog rau tej yam no, qhov laj thawj yuav yog ib yam mob uas koj tsis tau hnov dua hu ua 'Noonan Syndrome.' Tsis txhob txhawj, qhov no tsis yog ib yam dab tsi uas ntau tus neeg paub txog. Yog li cia peb tham txog nws hnub no.
Noonan Syndrome yog dab tsi tiag?
Hais yooj yim xwb, Noonan syndrome yog ib yam mob caj ces uas ib tug me nyuam yug los muaj. Qhov no tuaj yeem cuam tshuam rau kev loj hlob ntawm ntau qhov ntawm lub cev ntawm tus me nyuam. Qee tus me nyuam muaj cov tsos mob me me heev vim yog qhov mob no. Uas yog, lawv tsis pom tseeb sab nraud. Txawm li cas los xij, qee tus me nyuam yuav muaj teeb meem kev noj qab haus huv loj dua.
Hauv qhov xwm txheej no, tus menyuam yuav muaj cov yam ntxwv ntawm lub ntsej muag tshwj xeeb (piv txwv li, lub hauv pliaj dav, qhov muag sib nrug deb), qhov siab luv (tsis siab), teeb meem qhov muag, thiab cov teeb meem plawv txij thaum yug los.
Qhov tseem ceeb yog tias txawm hais tias tsis muaj kev kho mob tshwj xeeb rau Noonan syndrome, muaj ntau yam kev kho mob zoo thiab cov lus qhia uas tuaj yeem pab koj tus menyuam kom noj qab nyob zoo. Koj tus kws kho mob yuav piav qhia txhua yam uas koj thiab koj tus menyuam xav paub.
Leej twg muaj tus mob no? Nws tshwm sim ntau npaum li cas?
Mob Noonan syndrome yog ib yam mob uas txhua tus neeg muaj peev xwm tshwm sim thaum yug los. Nws tsis yog vim leej twg ua txhaum.
- Kev tau txais qub txeeg qub teg los ntawm niam txiv: Kwv yees li 50% ntawm cov menyuam uas muaj tus mob Noonan syndrome muaj niam txiv uas muaj tus mob no. Qhov no txhais tau tias yog niam txiv twg muaj tus mob no, tus menyuam muaj 50% feem pua ntawm kev tau txais qub txeeg qub teg thiab.
- Qhov tshwm sim tsis tu ncua: Qee zaum, qhov mob no kuj tuaj yeem tshwm sim vim muaj kev hloov pauv tsis tu ncua (kev hloov pauv tus kheej) hauv cov noob caj noob ces ntawm tus menyuam, yam tsis muaj leej twg hauv tsev neeg muaj qhov mob.
Qhov no tsis yog ib qho mob tsawg tsawg li koj xav. Qhov nruab nrab, ib tug ntawm txhua 1,000 txog 2,500 tus menyuam mos uas yug los muaj tus mob no.
Dab tsi ua rau muaj tus mob Noonan syndrome?
Muaj cov noob caj noob ces tshwj xeeb uas qhia peb lub cev cov nqaij kom loj hlob thiab faib. Noonan syndrome feem ntau yog tshwm sim los ntawm kev hloov pauv ('mutations') hauv cov noob caj noob ces no. Vim yog qhov kev hloov pauv no, cov protein uas cov noob caj noob ces tsim tawm yuav nyob twj ywm ntev dua li qhov lawv yuav tsum tau ua. Nws zoo li lub teeb uas nyob twj ywm es tsis txhob tua thaum nws yuav tsum tau ua. Qhov no cuam tshuam kev loj hlob thiab kev faib ntawm cov cell.
Puas muaj lwm yam mob zoo li no?
Yog lawm, Noonan syndrome yog ib yam mob uas koom nrog ib pawg kab mob hu ua 'RASopathies'. Lwm yam kab mob hauv pawg no kuj muaj cov yam ntxwv zoo sib xws. Yog li ntawd, lawv cov tsos mob feem ntau zoo sib xws.
Nov yog qee qhov xwm txheej zoo li no:
- "Cardiofaciocutaneous syndrome"
- Costello syndrome
- Kab mob Neurofibromatosis hom 1 (NF1)
- 'Legius syndrome'
- 'Turner syndrome'
Cov tsos mob ntawm Noonan syndrome yog dab tsi?
Cov tsos mob yuav txawv ntawm ib tug me nyuam mus rau lwm tus. Ib txhia me nyuam yuav muaj cov tsos mob me me xwb, thaum lwm tus yuav muaj cov tsos mob hnyav heev uas ua rau tuag taus. Muaj ntau cov tsos mob pib thaum tseem nyob hauv plab lossis tshwm sim ua ntej hnub nyoog 11 xyoos.
Tiamsis qhov zoo yog tias thaum tus me nyuam loj hlob tuaj, ntau yam ntawm lub ntsej muag txawv txawv maj mam ploj mus.
Yuav kom yooj yim to taub, cia peb faib cov yam ntxwv no ua ntau lub rooj.
| Cov yam ntxwv ntawm lub ntsej muag pom tseeb | |
|---|---|
| Hauv pliaj | Qhov chaw ntawm lub hauv pliaj siab thiab dav. |
| Qhov muag | Qhov chaw ntawm ob lub qhov muag dav zuj zus, ob lub qhov muag nqes mus rau hauv qab, ob lub qhov muag poob qis (ptosis) , strabismus , ob lub qhov muag xiav lossis ntsuab. |
| Qhov ntswg | Lub qhov ntswg tiaj tus thiab lub qhov ntswg dav. |
| Pob ntseg | Pob ntseg uas nyob qis dua qib ib txwm. |
| Daim di ncauj sab saud | Ib lub qhov ncauj tob tob hauv nruab nrab ntawm daim di ncauj sab saud. |
| Lwm cov tsos mob uas pom tau hauv lub cev | |
|---|---|
| Caj dab | Ib lub caj dab luv luv, nrog rau cov tawv nqaij ntxiv (webbing) ntawm ob sab ntawm lub caj dab. |
| Qhov siab | Luv luv. |
| Lub hauv siab | Lub hauv siab sunken (pectus excavatum) los yog lub hauv siab protruding (pectus carinatum) . |
| Cov ntiv tes thiab cov rau tes | Cov ntiv tes thiab cov ntiv taw o, cov rau tes tsis zoo li qub lossis tsis muaj xim. |
Cov teeb meem ntsig txog lub plawv
Muaj ntau tus menyuam uas muaj tus kab mob Noonan syndrome uas yuav muaj tus kab mob plawv txij thaum yug los. Tej tus menyuam yuav xav tau kev kho mob tam sim ntawd . Tej tus menyuam kuj yuav muaj tus kab mob plawv tom qab ntawd. Tej yam mob plawv uas feem ntau muaj xws li:
- Ib lub qhov nyob nruab nrab ntawm lub atria ntawm lub plawv (atrial septal defect).
- Kev ua kom cov leeg nqaij plawv tuab (Hypertrophic cardiomyopathy).
- Kev mob ntawm cov hlab ntsha hauv lub ntsws.
Lwm yam teeb meem kev noj qab haus huv uas yuav tshwm sim
- Ua pa nyuaj: Piv txwv li, tej yam mob xws li 'laryngomalacia'.
- Kev o ntawm tes thiab taw: Cov kua dej sib sau ua ke (lymphedema) vim muaj teeb meem nrog lub cev lymphatic.
- Kev loj hlob qeeb .
- Yooj yim los ntshav los yog mob nqaij .
- Nyuaj siab rau kev pub niam mis thaum lub sijhawm tseem yau.
- Cov noob qes tsis nqis los rau hauv cov tub hluas . Yog tias tsis kho, qhov no tuaj yeem ua rau muaj kev tsis muaj menyuam yav tom ntej.
- Kab mob Scoliosis .
- Kev tsis pom kev lossis kev hnov lus tsis zoo.
- Cov teeb meem thaum yug los uas muaj feem cuam tshuam nrog raum.
Muaj teeb meem dab tsi ntxiv nrog qhov no?
Muaj ntau tus menyuam uas muaj tus kab mob Noonan syndrome loj hlob qeeb dua li qub, tshwj xeeb tshaj yog thaum lawv tseem hluas. Tsis tas li ntawd, kwv yees li 25% ntawm cov menyuam yuav muaj teeb meem kev kawm. Txawm li cas los xij, tsuas yog muaj ob peb tug xwb uas muaj teeb meem kev txawj ntse. Qhov no txhais tau tias feem ntau cov menyuam tuaj yeem kawm tau zoo li qub. Kwv yees li 10-15% ntawm cov menyuam yuav xav tau kev txhawb nqa kev kawm tshwj xeeb.
Tsis tas li ntawd xwb, qee tus menyuam yaus muaj feem yuav mob qog ntshav hauv menyuam yaus uas hu ua 'juvenile myelomonocytic leukemia (JMML)' lossis lwm yam qog ntshav hauv menyuam yaus. Tab sis tsis txhob txhawj, qhov kev pheej hmoo no qis heev, ntawm 4% thaum muaj hnub nyoog 20 xyoo.
Tus kws kho mob kuaj qhov no li cas ? (Kev kuaj mob)
Koj tus kws kho mob yuav xav tias muaj tus mob Noonan syndrome tom qab kuaj koj tus menyuam lub cev thiab nug txog koj cov tsos mob. Yuav kom paub meej tias muaj tus kab mob thiab tshem tawm lwm yam mob, koj tus kws kho mob yuav xaj ntau yam kev kuaj mob.
Cov kev ntsuam xyuas no yuav suav nrog:
- Kev suav cov ntshav tag nrho (CBC)
- Kev X-ray hauv siab
- Kev kuaj CT
- Ib qho kev kuaj 'Echocardiogram' uas xyuas seb lub plawv ua haujlwm li cas
- Ib qho kev kuaj 'Electrocardiogram (EKG)' uas kuaj xyuas qhov ua haujlwm hluav taws xob ntawm lub plawv.
- Kev kuaj noob caj noob ces
- Kev kuaj mob ultrasound ('Ultrasound')
Puas muaj kev kho mob rau Noonan syndrome?
Tseem tsis tau muaj tshuaj kho tau tus mob Noonan syndrome no. Txawm li cas los xij, muaj ntau txoj kev kho mob zoo uas tuaj yeem pab koj tus menyuam tswj lawv cov tsos mob thiab ua lub neej noj qab haus huv .
Cov kws kho mob uas kho koj tus menyuam yuav tsim ib txoj kev npaj kho mob raws li koj tus menyuam cov tsos mob thiab lawv qhov hnyav. Txoj kev npaj no yuav muaj xws li:
- Cov khoom siv pab: Tej yam xws li tsom iav lossis cov khoom pab hnov lus.
- Kev kho tus cwj pwm los yog kev hais lus .
- Kev txhawb nqa kev kawm: Muab kev txhawb nqa tshwj xeeb rau cov neeg xiam oob qhab hauv kev kawm.
- Cov Tshuaj: Cov tshuaj siv los kho cov teeb meem plawv, tswj kev los ntshav, lossis txhawb kev loj hlob qeeb.
- Kev kho mob hormone loj hlob .
- Kev kho mob ntxiv: Tej yam xws li kev kho mob nias rau lymphedema (o).
Muaj tej lub sij hawm, koj tus kws kho mob yuav pom zoo kom phais. Kev kuaj mob thaum ntxov yog qhov tseem ceeb rau kev kho mob zoo thiab kev saib xyuas tom qab.
Yav tom ntej yuav zoo li cas? Thiab qhov no puas tuaj yeem tiv thaiv tau?
Qhov no yog qhov tseem ceeb tshaj plaws. Cov neeg feem coob uas muaj tus kab mob Noonan syndrome no nyob kaj siab lug thiab muaj lub neej ywj pheej. Pab neeg kho mob ntawm koj tus menyuam yuav pab koj tswj cov tsos mob ntawm koj tus menyuam thiab tiv thaiv kom tsis txhob muaj teeb meem.
Vim tias qhov mob no yog los ntawm kev hloov pauv caj ces, peb tsis muaj dab tsi ua tau los tiv thaiv nws. Txawm li cas los xij, yog tias ib tug neeg hauv koj tsev neeg muaj Noonan syndrome, koj tuaj yeem tham nrog koj tus kws kho mob txog kev kuaj caj ces ua ntej yug menyuam.
Nws yog ib qho ib txwm muaj kev ntshai thaum ib tug me nyuam tau txais kev kuaj mob zoo li no. Tab sis nco ntsoov, feem ntau cov me nyuam uas muaj Noonan syndrome muaj cov tsos mob me me. Lawv tuaj yeem ua neej nyob puv npo thiab nquag. Yog li ntawd, nrog koj tus kws kho mob tham txog kev kho mob uas zoo tshaj plaws rau koj tus me nyuam. Kev pib kho mob thaum ntxov tuaj yeem pab koj tus me nyuam muaj cov txiaj ntsig zoo tshaj plaws rau kev noj qab haus huv.
Cov Lus Qhia Txog Kev Coj Mus Tsev
- Tus mob Noonan syndrome yog ib yam mob uas muaj los ntawm noob caj noob ces. Nws tsis yog los ntawm qhov txhaum ntawm niam txiv.
- Cov tsos mob yuav txawv ntawm ib tug me nyuam mus rau ib tug me nyuam. Qee tus yuav muaj cov tsos mob me me xwb, thaum lwm tus yuav xav tau kev saib xyuas ntau dua.
- Nws yog ib qho tseem ceeb heev uas yuav tsum kuaj mob thaum ntxov thiab ua haujlwm nrog pab pawg kws kho mob uas muaj ntau tus kws tshwj xeeb.
- Txawm hais tias tsis muaj kev kho mob tshwj xeeb rau tus mob no los xij, muaj ntau yam kev kho mob uas tuaj yeem pab tswj cov tsos mob tau zoo heev.
- Qhov tseem ceeb yog tias, nrog kev saib xyuas thiab kev saib xyuas kho mob kom zoo, feem ntau cov menyuam yaus uas muaj tus kab mob Noonan tuaj yeem ua neej nyob puv npo, nquag, thiab noj qab nyob zoo.
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Tsis muaj lus teb tau muab tso tawm. Ntxiv koj cov lus tawm ntawm no thawj zaug.
Ntxiv koj cov lus