McCune-Albright Syndrome yog dab tsi? Cia peb tham txog nws!

Peb txhua tus yeej mob siab txog peb cov menyuam txoj kev noj qab haus huv, puas yog? Qee zaum, nws yog ib qho ib txwm muaj uas peb ntshai me ntsis thaum peb pom cov kev hloov me me hauv peb cov menyuam lub cev uas peb tsis xav tias yuav muaj. Tej zaum nws yog ib qho xim av ntawm daim tawv nqaij, lossis kev hloov me ntsis ntawm pob txha, lossis txawm tias ib yam dab tsi zoo li tus menyuam nkag mus rau hauv lub hnub nyoog laus dua li qhov xav tau. Cov no tsis yog ib txwm loj heev, tab sis qee zaum lawv tuaj yeem yog cov cim qhia ntawm tus mob caj ces tsis tshua muaj. Ib qho tsis tshua muaj, tab sis tsim nyog paub txog, tus mob caj ces uas peb yuav tham txog hnub no yog McCune-Albright Syndrome.

McCune-Albright Syndrome yog dab tsi?

Hais yooj yim xwb, McCune-Albright syndrome yog ib yam mob uas muaj los ntawm noob caj noob ces. Nws feem ntau cuam tshuam rau cov pob txha, daim tawv nqaij, thiab lub cev endocrine, lossis cov qog uas tsim cov tshuaj hormones . Tus mob no tuaj yeem ua rau muaj tej yam xws li cov pob txha caws pliav (uas peb hu ua "fibrous dysplasia"). Nws kuj ua rau muaj cov pob tshwj xeeb (pigmentation) ntawm daim tawv nqaij, thiab qee cov qog uas tswj kev loj hlob ua haujlwm ntau dhau.

Nco ntsoov tias, qee tus menyuam yaus yuav tsis raug mob hnyav heev, tab sis muaj cov tsos mob me me xwb. Txawm li cas los xij, rau lwm tus, nws tuaj yeem hnyav dua, qee zaum txawm tias muaj kev phom sij rau lub neej. Yog li nws yog ib qho tseem ceeb uas yuav tsum paub txog qhov no.

Leej twg raug kev cuam tshuam ntau tshaj plaws los ntawm qhov xwm txheej no?

McCune-Albright syndrome yog qhov tshwm sim ntawm kev hloov pauv caj ces tshiab . Qhov no txhais tau tias nws tsis yog ib yam dab tsi uas tau txais los ntawm niam txiv mus rau cov menyuam. Peb tsis tuaj yeem kwv yees thaum twg thiab yuav ua li cas cov kev hloov pauv caj ces no yuav tshwm sim. Feem ntau, qhov kev hloov pauv caj ces no tshwm sim tom qab cev xeeb tub/fertilization, thaum ib tug menyuam xeeb tub hauv niam lub tsev menyuam, vim muaj qhov yuam kev hauv kev faib cell thiab replication.

Nco ntsoov qhov no: Qhov kev hloov pauv caj ces no tsis yog los ntawm txhua yam uas niam txiv tau ua lossis tsis tau ua thaum cev xeeb tub. Yog li ntawd, tsis txhob txhawj txog nws.

Tus mob no feem ntau tshwm sim li cas?

Tseeb tiag, McCune-Albright syndrome yog ib yam mob tsis tshua muaj. Thoob ntiaj teb, kwv yees tias tus mob no tshwm sim li ntawm ib ntawm txhua ib puas txhiab lossis ib lab tus menyuam yug los . Yog li, nws tsis yog ib yam dab tsi uas pom ntau zaus.

McCune-Albright Syndrome cuam tshuam li cas rau lub cev ntawm tus menyuam?

Qhov mob no tuaj yeem cuam tshuam rau lub cev ntawm tus menyuam ntau txoj kev. Tshwj xeeb, nws tuaj yeem cuam tshuam rau kev loj hlob ntawm pob txha thiab kev ua haujlwm ntawm lub endocrine system (hormonal system), uas tuaj yeem cuam tshuam rau tus menyuam qhov siab thiab qhov hnyav .

Tsis tas li ntawd xwb, tej zaum koj yuav pom cov xim av sib txawv ntawm koj tus menyuam daim tawv nqaij (hu ua "café-au-lait spots"). Lwm yam tseem ceeb yog tias qee tus menyuamQhia txog cov cim qhia txog kev laus thaum tseem hluas heev.

Yog koj xav tias koj tus menyuam muaj teeb meem loj hlob thiab loj hlob zoo li qub vim yog cov tsos mob no, nws yog ib qho tseem ceeb heev uas yuav tsum nrhiav kev pab kho mob tam sim ntawd. Tus kws kho mob yuav muab ib txoj kev npaj kho mob uas tshwj xeeb rau koj tus menyuam thiab yuav pab tswj cov tsos mob.

Cov tsos mob ntawm McCune-Albright Syndrome yog dab tsi?

Cov tsos mob ntawm tus mob no feem ntau pom nyob rau hauv cov pob txha, daim tawv nqaij, thiab endocrine system (hormonal system) . Txawm li cas los xij, cov tsos mob no tsis tshwm sim tib yam lossis nrog tib qhov hnyav rau txhua tus menyuam. Lawv tuaj yeem sib txawv ntawm ib tus menyuam mus rau lwm tus.

Cov tsos mob ntawm pob txha

Qhov tseem ceeb thiab feem ntau tshwm sim ntawm cov pob txha no yog ib qho mob hu ua "fibrous dysplasia." Hais yooj yim xwb, qhov no yog thaum cov nqaij caws pliav loj hlob hauv cov pob txha es tsis yog cov pob txha noj qab haus huv. Yog li, thaum tus menyuam loj hlob, cov cheeb tsam uas cov nqaij fibrous no nyob yuav tsis muaj zog. Qhov no tuaj yeem ua rau pob txha tawg, lossis cov pob txha tuaj yeem loj hlob tsis xwm yeem thiab tsis zoo . Nyob ntawm seb muaj pes tsawg tus pob txha raug mob, qhov mob "fibrous dysplasia" no tuaj yeem tsis hnyav rau qee tus neeg thiab hnyav rau lwm tus.

Lwm yam yog, tsis tshua muaj, txhais tau tias tsawg dua 1% ntawm cov neeg uas muaj tus mob no, qhov "fibrous dysplasia" no tuaj yeem ua rau muaj mob qog nqaij hlav / mob qog nqaij hlav. Nws tsis tshua muaj, tab sis nws yog qhov zoo uas yuav tsum paub txog.

Lwm cov tsos mob ntsig txog pob txha muaj xws li:

• Kev loj hlob tsis sib xws ntawm cov pob txha ntawm lub ntsej muag.
• Mob pob txha thiab tsis xis nyob.
• Nyuaj siab taug kev lossis txav mus los (Tsis txav tau).
• Cov kab mob uas ua rau cov pob txha tsis muaj zog, xws li 'Rickets' lossis 'osteomalacia'.
• Kab mob Scoliosis.
• Luv luv.
• Cov pob txha ntawm ob txhais ceg tsis sib npaug (qhov no tuaj yeem ua rau taug kev tsis taus).

Cov tsos mob ntawm daim tawv nqaij

Muaj ib txhia menyuam mos uas yug los muaj tus mob McCune-Albright syndrome muaj cov xim tawv nqaij uas txawv ntawm lwm qhov ntawm lawv daim tawv nqaij. Cov pob no tuaj yeem yog xim av daj mus rau xim av tsaus . Lawv kuj muaj ciam teb jagged. Cov no hu ua café-au-lait spots. Lawv tsuas yog tshwm sim rau ib sab ntawm lub cev xwb. Thaum tus menyuam loj hlob tuaj, cov pob no yuav pom tseeb dua thiab yuav nce ntxiv.

Cov tsos mob ntawm lub cev endocrine

Qhov mob no tuaj yeem cuam tshuam rau tus menyuam lub cev endocrine, lub cev ntawm cov qog uas tsim cov tshuaj hormones. Yog li ntawd, cov menyuam yaus tuaj yeem pom cov cim ntawm kev laus thaum tseem hluas heev . Cov ntxhais tshwj xeeb tshaj yog tuaj yeem pib muaj hli thaum muaj hnub nyoog ob xyoos.Qhov no tshwm sim vim tias cov cysts hauv lawv lub zes qe menyuam tsim cov estrogen ntau dhau, uas yog cov tshuaj hormones poj niam. Cov tub hluas kuj tuaj yeem muaj cov cim qhia thaum ntxov ntawm kev laus.

Kwv yees li ntawm 50% ntawm cov neeg uas muaj tus kab mob McCune-Albright syndrome muaj lub qog thyroid loj . Thaum lub qog thyroid loj zuj zus, nws tsim cov tshuaj hormones thyroid ntau dhau. Qhov mob no hu ua hyperthyroidism. Qhov no tuaj yeem ua rau muaj cov tsos mob xws li lub plawv dhia ceev, hws ntau dhau, ntshav siab, thiab poob phaus .

Lwm cov tsos mob ntawm endocrine system muaj xws li:

• Cov qog pituitary tsim cov tshuaj hormones loj hlob ntau dhau. Qhov no tuaj yeem ua rau ob txhais ceg loj hlob, lub ntsej muag puag ncig, thiab/lossis mob zoo li mob pob qij txha (acromegaly).
• Cov qog adrenal tsim cov tshuaj cortisol ntau dhau. Qhov no tuaj yeem ua rau muaj tus mob hu ua Cushing's syndrome, uas yog tus cwj pwm los ntawm kev rog dhau thiab kev loj hlob qeeb.

Vim li cas ho ua li no?

Kab mob McCune-Albright yog tshwm sim los ntawm kev hloov pauv hauv GNAS1 gene. Lub GNAS1 gene tsim cov protein uas tswj cov tshuaj hormones ua haujlwm. Yog li, thaum muaj kev hloov pauv hauv lub gene no, ib qho enzyme hu ua adenylate cyclase (tseem yog ib qho protein) pib tsim cov tshuaj hormones ntau dhau. Qhov ntawd yog qhov ua rau muaj cov tsos mob no.

Qhov tseem ceeb yog tias qhov kev hloov pauv caj ces no tshwm sim tom qab tus menyuam xeeb tub hauv niam lub tsev menyuam (somatic mutation). Qhov ntawd yog, qhov no tsis yog ib qho mob uas tau txais los ntawm niam txiv mus rau tus menyuam. Qhov no tsis yog vim muaj qhov txhaum ntawm niam lossis txiv, lossis ib yam dab tsi uas lawv tau ua lossis tsis tau ua thaum cev xeeb tub. Tsis tas li ntawd, tsis muaj cov ntaub ntawv pov thawj ntawm ib tus neeg uas muaj McCune-Albright syndrome muaj ib tug menyuam uas muaj tib yam mob. Qhov laj thawj tseeb rau qhov "somatic mutation" no tseem tsis tau pom. Kev tshawb fawb qhia tias cov no yog cov xwm txheej random, spontaneous.

Yuav kuaj tus kab mob no li cas?

Feem ntau tus mob McCune-Albright syndrome no yuav kuaj pom thaum tseem yog menyuam yaus. Tus kws kho mob yuav kuaj tus menyuam thiab nrhiav seb puas muaj teeb meem endocrine system, cov tawv nqaij puas muaj cov pob me me xws li "café-au-lait spots" thiab "fibrous dysplasia". Feem ntau yuav kuaj pom tias tus menyuam mos muaj hnub nyoog txaus lossis pob txha tsis loj hlob zoo .

Yuav ua li cas thiaj kuaj tau qhov no?

Cov kev kuaj mob los kuaj mob no suav nrog:

• Kev kuaj ntshav: Xyuas seb lub cev endocrine ua haujlwm li cas (hormone system).
• Kev kuaj noob caj noob ces:Txheeb xyuas qhov kev hloov pauv ntawm cov noob caj noob ces uas ua rau koj muaj cov tsos mob. Feem ntau qhov no yuav tsum tau coj me me (biopsy) ntawm daim tawv nqaij lossis lwm cov nqaij thiab kuaj nws.
• Kev kuaj duab: Kev kuaj xws li X-rays yog ua los xyuas kev loj hlob ntawm pob txha.

Yuav kho li cas?

Kev kho mob rau tus mob McCune-Albright syndrome txawv ntawm ib tus neeg mus rau ib tus neeg. Tsis muaj tshuaj kho tau tus mob no. Lub hom phiaj tseem ceeb ntawm kev kho mob yog kom txo thiab tswj cov tsos mob.

Cov hauv qab no tuaj yeem ua tau raws li kev kho mob:

• Cov tshuaj rau kev mob pob txha loj hlob, xws li bisphosphonates, txo qhov kev pheej hmoo ntawm kev tawg pob txha.
• Cov tshuaj siv los tswj kev laus thaum ntxov, piv txwv li, aromatase inhibitors.
• Cov tshuaj rau tus mob 'hyperthyroidism', piv txwv li 'antithyroids'.
• Muaj kev kho lub cev thiab kev kho mob ua haujlwm rau cov teeb meem kev txav mus los.
• Kev phais rau cov teeb meem kev loj hlob ntawm pob txha, tshwj xeeb tshaj yog fibrous dysplasia.

Kuv puas txo tau qhov kev pheej hmoo ntawm kuv tus menyuam kom muaj tus mob no?

Raws li peb tau tham ua ntej lawm, tus mob McCune-Albright syndrome yog tshwm sim los ntawm kev hloov pauv caj ces tshiab. Yog li ntawd, tsis muaj dab tsi peb ua tau los tiv thaiv nws kom tsis txhob tshwm sim.

Yog tias koj tab tom yuav muaj menyuam, nws yog ib lub tswv yim zoo los tham nrog koj tus kws kho mob txog kev sab laj txog kev hloov pauv caj ces kom paub seb koj puas muaj feem yuav muaj lwm yam mob caj ces. Txawm li cas los xij, qhov mob tshwj xeeb no, McCune-Albright syndrome, tsis yog ib yam dab tsi uas tuaj yeem tiv thaiv ua ntej.

Yog tias kuv tus menyuam muaj tus mob no, kuv yuav tsum xav li cas?

Qhov kev kwv yees rau koj tus menyuam nyob ntawm seb tus kab mob hnyav npaum li cas. Txawm li cas los xij, feem ntau cov neeg ua neej nyob li qub. Koj pab neeg kho mob yuav pab koj nrhiav kev kho mob zoo tshaj plaws los pab txo cov tsos mob ntawm koj tus menyuam thiab txo lawv qhov tsis xis nyob.

Koj tus menyuam yuav luv dua li lwm tus menyuam hnub nyoog vim tias cov phaj loj hlob kaw ntxov vim yog lub sijhawm hluas nkauj thaum ntxov. Txawm li cas los xij, yog tias qhov mob no raug kuaj pom thiab kho thaum ntxov, muaj feem ntau uas cov kev hloov pauv hluas nkauj no yuav raug ncua sijhawm.

Nws yog ib qho tseem ceeb heev uas yuav tsum taug qab koj tus menyuam txoj kev loj hlob kom koj thiaj li paub tseeb tias koj tus menyuam loj hlob zoo.

Muaj kev pheej hmoo me me heev ntawm kev mob qog noj ntshav los ntawm tus kab mob no, yog li nws yog ib qho tseem ceeb heev uas yuav tsum coj koj tus menyuam mus kuaj mob tsis tu ncua.

Tshwj xeeb, cov poj niam uas muaj tus kab mob McCune-Albright syndrome muaj feem yuav mob qog noj ntshav mis thaum lawv tseem hluas dua li qub, yog li ntawd nws yog ib qho tseem ceeb uas yuav tsum nrog koj tus kws kho mob tham txog qhov no thiab mus kuaj mob raws li pom zoo.

Kuv yuav tsum mus ntsib kws kho mob thaum twg?

Mus ntsib kws kho mob yog tias koj tus menyuam muaj cov tsos mob ntawm McCune-Albright syndrome. Piv txwv li:

• Tsis tshua muaj zog, ua haujlwm ntau dhau, npau taws sai sai, thiab pw tsis tsaug zog (cov no yuav yog cov tsos mob ntawm hyperthyroidism).
• Kev hloov pauv ntawm cov duab ntawm cov pob txha vim muaj qhov tsis zoo ntawm kev loj hlob ntawm cov pob txha.
• Nyuaj siab taug kev.
• Kev muaj hli pib thaum tseem hluas heev.
• Mob hnyav heev rau cov pob txha.

Xwm Ceev! Yog koj xav tias koj tus menyuam pob txha tawg (piv txwv li, mob, o, tsis txav tau lossis dais qhov hnyav, mob nqaij), mus rau chav kho mob ceev tam sim ntawd.

Koj yuav tsum nug tus kws kho mob li cas?

Thaum koj paub tias koj tus menyuam muaj tus mob no, nws yuav pab tau yog tias koj nug cov lus nug ntawm tus kws kho mob xws li cov no:

• Puas yog kuv tus menyuam xav tau tshuaj los txo nws cov tsos mob?
• Puas yog kuv tus menyuam yuav tsum tau phais mob rau qhov fibrous dysplasia?
• Puas muaj tej yam tshwm sim tsis zoo rau cov tshuaj uas muab rau kuv tus menyuam kom tswj tau cov tsos mob?

Kev nrhiav pom tias koj tus menyuam muaj tus mob caj ces tsis tshua muaj tuaj yeem ua rau cov niam txiv tshiab ntxhov siab. Tab sis nco ntsoov, kev kuaj mob thaum ntxov thiab kev kho mob tuaj yeem pab koj tus menyuam daws cov tsos mob. Koj tus kws kho mob kuj tseem yuav qhia kom koj mus ntsib tus kws pab tswv yim txog caj ces, tus kws tshwj xeeb hauv kev kho mob caj ces. Lawv tuaj yeem pab koj nkag siab txog kev kuaj mob zoo dua thiab muab kev txhawb nqa kev xav uas koj xav tau. Lawv kuj tuaj yeem coj koj mus rau cov kauj ruam uas koj tuaj yeem ua los pab koj tus menyuam ua neej noj qab haus huv thiab txaus siab.

Tej yam tseem ceeb uas yuav tsum nco ntsoov (Cov Lus Qhia Coj Mus Tsev)

McCune-Albright syndrome yog ib qho mob caj ces uas tsis tshua muaj, tab sis tej zaum yuav ua rau muaj teeb meem loj heev.

• Qhov no cuam tshuam rau cov pob txha, daim tawv nqaij, thiab lub cev hormonal .
• Cov tsos mob tseem ceeb yog fibrous dysplasia (cov nqaij caws pliav hauv cov pob txha), café-au-lait spots (cov pob xim av ntawm daim tawv nqaij), thiab lub hnub nyoog laus zuj zus.
• Qhov no tsis yog ib yam dab tsi uas tau txais los ntawm niam txiv; nws yog ib qho kev hloov pauv caj ces tshiab tshwm sim.
• Txawm hais tias tsis muaj kev kho mob tag nrho los xij, muaj kev kho mob zoo los tswj cov tsos mob.
• Kev kuaj mob thiab kho mob thaum ntxov, nrog rau kev saib xyuas kev kho mob tsis tu ncua, yog qhov tseem ceeb heev.
• Koj tsis yog tib leeg xwb; nrhiav kev pab los ntawm cov kws kho mob thiab cov kws pab tswv yim txog noob caj noob ces.

Vam tias cov ntaub ntawv no tau pab koj nkag siab txog qhov mob no. Nco ntsoov, yog tias koj muaj lus nug dab tsi, tsis txhob yig mus nrog kws kho mob tham.

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