Koj tus menyuam puas muaj cov tsos mob no? Cia peb tham txog Noonan Syndrome

Ua ib leej niam los yog ib leej txiv, tej zaum koj yeej ib txwm txhawj txog koj tus menyuam txoj kev noj qab haus huv thiab kev loj hlob. Qee zaum nws yog ib qho ib txwm muaj uas koj yuav ntshai me ntsis thaum koj pom kev hloov me me ntawm koj tus menyuam qhov tsos lossis teeb meem kev loj hlob. Hnub no peb yuav tham txog ib qho mob caj ces tseem ceeb uas cov niam txiv yuav tsum paub txog. Qhov ntawd yog ib qho mob hu ua Noonan Syndrome.

Noonan Syndrome yog dab tsi?

Hais yooj yim xwb, Noonan Syndrome yog ib yam mob caj ces . Nws yog tshwm sim los ntawm kev hloov pauv ntawm cov noob caj ces hauv peb lub cev. Qhov mob no tuaj yeem cuam tshuam rau koj tus menyuam ntau txoj kev sib txawv. Qee tus menyuam yug los nrog qhov mob no, tab sis cov tsos mob yuav tsis hnyav heev. Qhov no txhais tau tias lawv tuaj yeem ua neej nyob ib txwm yam tsis muaj teeb meem loj. Txawm li cas los xij, qee tus menyuam yuav muaj teeb meem ntau dua .

Hauv qhov xwm txheej no, tus menyuam lub ntsej muag yuav muaj qee yam tshwj xeeb . Piv txwv li, lub hauv pliaj siab, qhov muag dav, pob ntseg qis, thiab caj dab luv. Tsis tas li ntawd, ntau tus menyuam uas muaj Noonan Syndrome luv rau lawv lub hnub nyoog, txhais tau tias lawv yuav zoo li luv . Teeb meem qhov muag, cov leeg nqaij qis, thiab kab mob plawv txij thaum yug los kuj yog ib qho uas tshwm sim ntau.

Tiam sis qhov teeb meem yog, tsis muaj tshuaj kho tau tus kab mob Noonan Syndrome. Tiam sis tsis txhob txhawj! Koj tus kws kho mob tuaj yeem muab cov lus qhia rau koj kom koj tus menyuam noj qab nyob zoo li sai tau. Lawv kuj tuaj yeem ua haujlwm nrog koj los tiv thaiv lossis nrhiav pom cov teeb meem uas yuav tshwm sim los ntawm tus mob no. Ces koj tus menyuam tuaj yeem ua neej nyob puv npo thiab nquag .

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

Noonan Syndrome yog ib yam mob uas txhua tus neeg muaj tau thaum yug los. Peb tsis tuaj yeem kwv yees tau tias leej twg yuav muaj tus mob no thiab leej twg yuav tsis muaj. Txawm li cas los xij, raws li kev suav lej, kwv yees li 50% ntawm cov neeg uas muaj Noonan Syndrome tau txais tus mob no los ntawm ib tug ntawm lawv niam lawv txiv. Feem ntau, ib tus neeg uas muaj Noonan Syndrome muaj 50% feem pua ​​​​​​ntawm kev kis tus mob no mus rau lawv tus menyuam.

Noonan Syndrome yog ib qho mob caj ces uas pom ntau heev . Yog li ntawd, nws pom ntau dua li lwm yam mob caj ces uas tsis tshua muaj. Yog hais li ntawd, muaj ib tug neeg ntawm txhua 1,000 thiab 2,500 tus neeg uas muaj tus mob no.

Dab tsi ua rau muaj Noonan Syndrome?

Tus mob no feem ntau yog tshwm sim los ntawm qhov tsis muaj cov enzymes uas pab peb lub cev cov nqaij loj hlob thiab txhim kho.Nws yog tshwm sim los ntawm kev hloov pauv ntawm qee cov noob caj noob ces (kev hloov pauv). Tshwj xeeb, cov protein uas tsim los ntawm cov noob caj noob ces hloov pauv no tseem ua haujlwm ntev dua li qhov lawv yuav tsum tau ua. Qhov no tiv thaiv cov cell kom tsis txhob loj hlob thiab faib zoo.

Muaj ob txoj kev uas Noonan Syndrome tuaj yeem tshwm sim:

• Tau txais los ntawm niam txiv: Ib tug me nyuam tau txais qhov mob no los ntawm ib tug ntawm cov niam txiv.
• Kev hloov pauv uas tshwm sim los ntawm tus kheej: Ib qho mob uas tshwm sim los ntawm kev hloov pauv caj ces tshiab, yam tsis muaj leej twg hauv tsev neeg tau muaj tus mob no ua ntej.

Kev kuaj noob caj noob ces tam sim no tuaj yeem ntes tau qhov txawv txav ntawm noob caj noob ces hauv kwv yees li 80% ntawm cov neeg uas muaj Noonan Syndrome. Txawm li cas los xij, cov kws tshawb fawb tseem tsis tau paub qhov ua rau muaj tus mob no hauv cov pej xeem uas tseem tshuav.

Puas muaj lwm yam mob zoo ib yam li Noonan Syndrome?

Yog lawm, Noonan Syndrome yog ib qho mob uas koom nrog ib pawg ntawm cov kab mob sib xws hu ua RASopathies . Tag nrho cov kab mob no yog tshwm sim los ntawm kev tsis zoo ib yam li cov hlwb loj hlob thiab txhim kho. Yog li ntawd, lawv cov tsos mob zoo sib xws heev.

Qee cov kab mob uas koom nrog pawg 'RASopathies' yog:

• Kab mob Cardiofaciocutaneous syndrome
• Costello syndrome `(Costello syndrome)`
• Kab mob Neurofibromatosis hom 1 (NF1)
• Legius syndrome
• Noonan syndrome nrog ntau lub lentigines (yav tas los hu ua LEOPARD syndrome)
• Turner syndrome

Cov tsos mob ntawm Noonan Syndrome yog dab tsi?

Cov tsos mob ntawm Noonan Syndrome yuav txawv ntawm ib tus neeg mus rau ib tus neeg. Ib txhia neeg muaj cov tsos mob me me xwb, thaum lwm tus muaj cov tsos mob hnyav heev, uas ua rau tuag taus. Nws nyob ntawm seb qhov twg ntawm tus menyuam lub cev raug cuam tshuam. Feem ntau cov tsos mob pib thaum tus menyuam hauv plab tseem tab tom loj hlob hauv plab, lossis tshwm sim ua ntej tus menyuam muaj 11 xyoos .

Cov yam ntxwv ntawm lub ntsej muag pom tseeb

Cov yam ntxwv ntawm lub ntsej muag uas pom hauv cov menyuam yaus uas muaj Noonan Syndrome yuav maj mam ploj mus thaum tus menyuam loj hlob mus txog hnub nyoog laus . Qhov ntawd yog, lawv yuav tsis pom tseeb dua li thaum xub thawj. Cov yam ntxwv no yuav suav nrog:

• Muaj lub hauv pliaj siab .
• Muaj ib qho groove tob hauv nruab nrab ntawm daim di ncauj sab saud.
• Qhov muag poob qis (ptosis).
• Muaj lub qhov ntswg tiaj tus thiab lub hau bulbous.
• Cov pob ntseg nyob qis dua li qub.
• Qhov muag xiav lossis ntsuab.
• Strabismus yog ib qho mob uas qhov deb ntawm ob lub qhov muag nce ntxiv thiab ob lub qhov muag tig mus rau hauv qab, qee zaum tig mus rau ib leeg.

Lwm yam ntxwv ntawm lub cev

Ntxiv rau cov yam ntxwv ntawm lub ntsej muag, muaj ntau lwm yam ntxwv ntawm lub cev:

• O ntawm cov ntiv tes lossis cov taw.
• Cov rau tes uas muaj cov duab lossis xim txawv txawv.
• Caj dab luv thiab kab plaub hau qis rau sab nraub qaum ntawm caj dab, tej zaum muaj cov xov ntawm ob sab ntawm caj dab.
• Tsis siab (tsis siab raws li hnub nyoog).
• Lub hauv siab sunken (pectus excavatum) los yog lub hauv siab pob txha (pectus carinatum).

Kab mob plawv

Muaj ntau tus menyuam uas muaj Noonan Syndrome tej zaum yuav muaj kab mob plawv txij thaum yug los . Ib txhia menyuam yuav xav tau kev kho mob tam sim ntawd rau kab mob plawv no. Lwm tus yuav tsis muaj tsos mob kom txog thaum laus hauv lub neej. Cov kab mob plawv feem ntau yog:

• Qhov tsis zoo ntawm lub atrial septal.
• Kev mob plawv hypertrophic.
• Kab mob ntsws stenosis.

Lwm yam teeb meem uas yuav tshwm sim tau

Ntxiv rau qhov no, Noonan Syndrome tuaj yeem ua rau muaj ntau yam teeb meem ntxiv:

• Ua pa nyuaj, piv txwv li, vim yog qhov mos ntawm lub larynx (laryngomalacia).
• Lymphedema (kev sib sau ua ke ntawm cov kua lymph hauv caj npab lossis ceg).
• Kev loj hlob qeeb .
• Los ntshav ntau dua li qub lossis yooj yim mob.
• Kev nyuaj siab thaum yau.
• Cov noob qes tsis tau nqis los rau hauv cov tub hluas. Yog tias tsis kho, qhov no tuaj yeem cuam tshuam rau cov teeb meem kev xeeb tub.
• Kab mob Scoliosis.
• Teeb meem pom kev lossis hnov ​​​​lus tsis zoo (hnov ​​lus tsis zoo).
• Cov teeb meem uas cuam tshuam nrog lub raum thaum yug los.

Muaj lwm yam teeb meem dab tsi cuam tshuam nrog Noonan Syndrome?

Muaj ntau tus menyuam uas muaj Noonan Syndrome loj hlob qeeb dua li qub thaum lawv mus txog hnub nyoog hluas. Txawm li cas los xij, lawv yuav yug los ntev li qub. Kwv yees li 25% muaj kev tsis taus hauv kev kawm. Muaj ob peb tug ntawm lawv kuj tseem yuav muaj kev tsis taus ntawm kev txawj ntse. Ntawm 10% thiab 15% ntawm cov menyuam uas muaj Noonan Syndrome yuav xav tau kev kawm tshwj xeeb. Tus mob no kuj tseem tuaj yeem ua rau kev loj hlob qeeb, teeb meem kev coj cwj pwm, lossis kev hais lus tsis zoo.

Qee tus menyuam uas muaj Noonan Syndrome yuav mob leukemia hluas (JMML) , uas yog ib hom mob leukemia uas tsis tshua muaj tshwm sim thaum yau.Qhov kev pheej hmoo ntawm kev mob qog noj ntshav hauv lub mis lossis lwm yam mob qog noj ntshav thaum yau yuav nce me ntsis. Txawm li cas los xij, qhov kev pheej hmoo tag nrho yog kwv yees li 4% thaum muaj hnub nyoog 20 xyoo. Yog li, nco ntsoov, nws yog qhov kev pheej hmoo tsawg heev .

Yuav kuaj mob Noonan Syndrome li cas?

Koj tus kws kho mob yuav xav tias muaj Noonan Syndrome tom qab kuaj lub cev thiab tshuaj xyuas koj tus menyuam cov tsos mob. Txhawm rau kom paub meej tias muaj tus kab mob thiab tshem tawm lwm yam mob, koj tus kws kho mob yuav pom zoo kom kuaj cov noob caj noob ces .

Muaj ntau lwm yam kev ntsuam xyuas uas ua tau rau qhov no:

• Kev kuaj ntshav tag nrho (CBC).
• Ib daim duab X-ray hauv siab.
• Ib daim CT scan.
• Ib qho echocardiogram yog ib qho kev kuaj uas xyuas seb lub plawv ua haujlwm li cas.
• Kev kuaj EKG (Electrocardiogram (EKG)).
• Kev kuaj mob ultrasound.

Puas muaj kev kho rau Noonan Syndrome?

Tsis yog, tsis muaj kev kho rau Noonan Syndrome. Tab sis tsis txhob txhawj! Muaj kev kho mob zoo uas tuaj yeem pab koj thiab koj tus menyuam tswj cov tsos mob.

Yuav kho tus mob Noonan Syndrome li cas?

Pab neeg kho mob ntawm koj tus menyuam yuav tsim ib txoj kev npaj kho mob rau Noonan Syndrome raws li koj tus menyuam cov tsos mob thiab lawv qhov hnyav. Koj tus menyuam yuav tau txais kev kho mob xws li:

• Cov khoom siv pab: 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 rau cov neeg xiam oob qhab hauv kev kawm.
• Cov tshuaj rau tus menyuam kab mob plawv , teeb meem los ntshav, lossis kev loj hlob qeeb .
• Kev kho mob hormone loj hlob.
• Cov kev kho mob ntxiv xws li kev kho mob nias, uas muab kev pab rau cov mob xws li lymphedema.

Muaj tej lub sij hawm, koj tus kws kho mob yuav pom zoo kom phais . Nco ntsoov tias, kev kuaj pom thaum ntxov yog qhov tseem ceeb rau kev kho mob zoo thiab kev saib xyuas tom qab.

Leej twg thiaj li koom nrog pab pawg kho mob Noonan Syndrome ntawm kuv tus menyuam?

Ntxiv rau koj tus kws kho mob menyuam yaus, pab pawg kho mob uas saib xyuas koj tus menyuam txoj kev noj qab haus huv yuav suav nrog cov kws tshwj xeeb xws li:

• Kws kho mob vascular.
• Ib tug kws kho mob uas tshwj xeeb hauv lub paj hlwb (lub hlwb, tus txha caj qaum, thiab cov hlab ntsha) (Neurologist).
• Kws kho mob qog noj ntshav.
• Kws kho qhov muag.
• Kws kho mob caj ces.
• Kws kho mob plawv.
• Kws kho mob endocrinologist.
• Kws kho mob qog ntshav.
• Kws kho mob tawv nqaij (kws kho mob tawv nqaij, plaub hau, thiab rau tes).

Koj pab neeg saib xyuas yuav pom zoo txoj kev kho mob uas zoo tshaj plaws rau koj tus menyuam. Lawv kuj tseem yuav saib xyuas koj tus menyuam tus mob thiab hloov kho cov tshuaj lossis kev kho mob uas tsim nyog, nyob ntawm tus menyuam tus mob thiab tej yam tshwm sim.

Puas muaj dab tsi uas kuv ua tau los txo qhov kev pheej hmoo ntawm Noonan Syndrome rau kuv tus menyuam?

Tsis tau. Tsis muaj dab tsi koj ua tau los txo qhov kev pheej hmoo ntawm koj tus menyuam muaj Noonan Syndrome. Nws yog tshwm sim los ntawm kev hloov pauv caj ces . 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, uas tuaj yeem ua tau thaum cev xeeb tub .

Yav tom ntej rau cov neeg uas muaj Noonan Syndrome yuav zoo li cas?

Feem ntau cov neeg uas muaj Noonan Syndrome nyob lub neej noj qab nyob zoo thiab ywj pheej.

Pab neeg saib xyuas koj tus menyuam yuav ua haujlwm nrog koj los tswj koj tus menyuam cov tsos mob thiab tiv thaiv kom tsis txhob muaj teeb meem. Yog li, nws yog ib qho tseem ceeb uas yuav tsum muaj kev cia siab.

Thaum twg koj yuav tsum nrhiav kev pab kho mob rau Noonan Syndrome?

Yog tias Noonan Syndrome ua rau muaj kab mob plawv hnyav txij thaum yug los , kev phais thiab kev saib xyuas tas mus li yuav tsum tau ua kom koj tus menyuam noj qab nyob zoo thiab muaj kev nyab xeeb. Koj tus kws kho mob tuaj yeem tham txog cov kev kho mob tam sim ntawd thiab ntev nrog koj.

Nws yog ib qho ib txwm muaj kev ntshai thaum ib tug menyuam mos lossis menyuam yaus uas tab tom loj hlob tau txais kev kuaj mob. Txawm li cas los xij, ntau tus menyuam yaus uas kuaj pom tias muaj Noonan Syndrome muaj cov tsos mob me me . Thiab lawv mus ua neej puv npo, nquag. Tham nrog koj tus kws kho mob txog kev kho mob zoo lossis kev xaiv kev saib xyuas txuas ntxiv uas tau tsim rau koj tus menyuam cov kev xav tau. Kev kho mob thaum ntxov tuaj yeem pab txo koj qhov kev ntxhov siab thiab pab koj tus menyuam ua tiav cov txiaj ntsig kev noj qab haus huv zoo tshaj plaws.

Cia peb nco ntsoov tej yam tseem ceeb tshaj plaws (Cov Lus Coj Mus Tsev)

Zoo, yog li cia peb rov hais dua cov ntsiab lus tseem ceeb tshaj plaws los ntawm qhov peb tau tham txog:

• Noonan Syndrome yog ib qho mob caj ces .
• Cov tsos mob ntawm qhov no sib txawv , qee qhov tsis hnyav heev, qee qhov hnyav dua me ntsis.
• Koj tuaj yeem pom tej yam xws li cov yam ntxwv tshwj xeeb ntawm lub ntsej muag, lub cev luv luv, thiab kab mob plawv.
• Txawm hais tias tsis muaj kev kho mob tag nrho los xij, muaj cov kev kho mob zoo uas tuaj yeem tswj cov tsos mob .
• Nws yog ib qho tseem ceeb heev uas yuav tsum kuaj mob thiab pib kho thaum ntxov .
• Ib pab kws kho mob tshwj xeeb yuav pab koj tus menyuam.
• Muaj ntau tus menyuam uas muaj Noonan Syndrome nyob lub neej zoo siab thiab nquag .

Yog li ntawd, yog tias koj tus menyuam muaj cov tsos mob no, tsis txhob ntshai, mus ntsib kws kho mob sai li sai tau thiab tau txais kev qhia. Lawv yuav muab txhua yam kev pab uas koj xav tau.

` Noonan syndrome, cov kab mob caj ces, kab mob plawv txij thaum yug los, kev loj hlob qeeb, cov yam ntxwv ntawm lub ntsej muag, kev noj qab haus huv ntawm cov menyuam yaus, kev kuaj caj ces