Koj tus me nyuam puas muaj cov tsos mob no? Cia peb tham txog Blau Syndrome.

Koj tus me nyuam puas feem ntau mob pob khaus? Los yog koj puas hais tias nws cov pob qij txha mob? Nws lub qhov muag puas qee zaum liab thiab nws lub zeem muag zoo li tsis meej me ntsis? Txawm hais tias ib lossis ob yam no yuav tshwm sim, qee zaum tag nrho lawv tuaj yeem tshwm sim ua ke. Hnub no peb yuav tham txog ib qho mob tsis tshua muaj tab sis tseem ceeb heev uas yuav tsum paub txog. Ntawd yog Blau Syndrome .

Blau Syndrome yog dab tsi?

Hais yooj yim xwb, Blau Syndrome yog ib yam kab mob tsis tshua muaj uas cuam tshuam rau koj tus menyuam daim tawv nqaij, pob qij txha, thiab qhov muag . 'Kev o' txhais tau tias o thiab liab hauv lub cev. Qhov ua rau muaj tus mob no yog kev hloov pauv caj ces uas tus menyuam yug los nrog . Feem ntau, cov tsos mob xws li pob khaus tawv nqaij, mob pob qij txha, lossis mob pob qij txha pib ua ntej tus menyuam muaj 5 xyoos . Nws kuj tseem tuaj yeem ua rau muaj tus mob hu ua uveitis, uas cuam tshuam rau qhov muag pom.

Lub npe "Blau Syndrome" txhais li cas?

Thaum koj hnov ​​lub npe no, tej zaum koj yuav xav paub tias qhov no yog dab tsi. Cia peb saib seb ob lo lus no txhais li cas:

• Blau: Qhov no yog lub npe ntawm ib tug kws kho mob. Xyoo 1985, Dr. Edward Blau, tus kws kho mob menyuam yaus yav dhau los hauv Wisconsin, tau luam tawm ib daim ntawv tshawb fawb txog tus kab mob no. Nws piav txog ib tsev neeg uas tau raug tus kab mob no plaub tiam neeg.
• Kab Mob Sib Kis: Hauv kev kho mob, kab mob sib kis yog ib qho mob uas muaj ntau yam tsos mob sib xws los ua ke thiab cuam tshuam rau ntau qhov ntawm lub cev. Uas yog, kev sib xyaw ua ke ntawm ntau yam tsos mob es tsis yog ib yam kab mob xwb.

Cov tsos mob ntawm Blau Syndrome yog dab tsi?

Cov tsos mob ntawm Blau syndrome feem ntau pib thaum yau . Feem ntau, cov tsos mob no yuav pom tseeb thaum muaj hnub nyoog 5 xyoos. Lawv feem ntau cuam tshuam rau koj tus menyuam daim tawv nqaij, pob qij txha, thiab qhov muag .

Cov tsos mob ntawm daim tawv nqaij

Thawj qhov cim qhia ntawm Blau syndrome yog ib qho mob ntawm daim tawv nqaij hu ua granulomatous dermatitis. Qhov no yog ib qho pob khaus uas tshwm sim rau ntawm daim tawv nqaij. Feem ntau nws tshwm sim rau ntawm caj npab, ceg, lossis lwm qhov chaw ntawm lub cev, xws li lub hauv siab thiab lub plab, hauv thawj xyoo ntawm tus menyuam lub neej . Hom kab mob dermatitis no tuaj yeem ua rau muaj cov tsos mob xws li:

• Cov pob tawv lossis cov qog uas koj tuaj yeem hnov ​​​​​​nyob rau hauv qab koj tus menyuam daim tawv nqaij . Cov no hu ua granulomas.
• Daim tawv nqaij yuav zoo li coral .
• Cov pob liab, daj, lossis xim av rau ntawm txheej sab saud ntawm daim tawv nqaij ntawm tus menyuam, uas yog daim epidermis.Cov pob tshwm sim.

Cov tsos mob hauv cov pob qij txha

Kab mob Blau syndrome tuaj yeem ua rau mob o ntawm daim ntaub ntawm koj tus menyuam cov pob qij txha, hu ua synovium. Koj tus menyuam yuav mob pob qij txha hauv thaj chaw xws li tes, dab teg, taw, thiab pob luj taws ntawm hnub nyoog 2 thiab 4 xyoos. Cov tsos mob ntawm mob pob qij txha suav nrog:

• Mob pob qij txha .
• Mob musculoskeletal , tshwj xeeb tshaj yog nyob rau hauv cov tendons.
• Qij txha o los yog mob nqaij .

Xav txog seb koj tus me nyuam quaj thaum nws sawv thaum sawv ntxov, tsis tuaj yeem txav nws ob txhais ceg, lossis yog tias nws pheej yws tias nws cov pob qij txha mob thaum nws mus ua si, koj yuav tsum txhawj txog qhov ntawd.

Cov tsos mob ntawm qhov muag

Kwv yees li 80% ntawm cov menyuam yaus uas kuaj pom tias muaj tus kab mob Blau syndrome muaj tus mob qhov muag hu ua uveitis. Uveitis yog kev o ntawm txheej nruab nrab ntawm lub qhov muag, hu ua uvea. Nws tuaj yeem cuam tshuam rau tus menyuam lub retina thiab cov hlab ntsha optic. Ib tug menyuam yaus tuaj yeem muaj uveitis hauv ob lub qhov muag , thiab nws kuj tuaj yeem ua rau tsis pom kev . Cov tsos mob ntawm uveitis suav nrog:

• Pom kev tsis zoo.
• Koj pom cov pob dub me me ( cov pob uas ntab rau ntawm qhov muag) txav mus los rau ntawm koj ob lub qhov muag.
• Koj hnov ​​mob los yog muaj kev nyuaj siab hauv koj ob lub qhov muag .
• Qhov muag liab .
• Photosensitivity , txhais tau tias nws nyuaj rau pom lub teeb.
• Qhov muag o .

Kab mob Blau cuam tshuam li cas rau lwm qhov ntawm lub cev?

Txawm hais tias qhov no tsis tshua muaj, koj tus menyuam uas muaj Blau syndrome yuav muaj cov mob o uas yuav ua rau tuag taus hauv cov kabmob no:

• Cov hlab ntsha
• Lub hlwb
• Lub plawv
• Siab
• Cov qog ntshav (lymphatic system)
• Mob qog

Cov teeb meem uas yuav tshwm sim ntawm Blau Syndrome yog dab tsi?

Cov mob o uas tshwm sim los ntawm Blau syndrome tuaj yeem ua rau muaj teeb meem xws li:

• Kab mob cataracts, glaucoma, cystoid macular edema, retinal detachment, thiab tsis pom kev kiag li..
• Nyuaj txav mus los thiab khoov mus tas li ntawm cov pob qij txha uas raug mob.
• Kab mob raum thiab lub raum tsis ua haujlwm .
• Lub plawv o.
• Lub qhov zis loj dua.
• Neuropathy - teeb meem ntawm cov hlab ntsha.
• Mob ntshav siab hauv lub ntsws - ntshav siab hauv lub ntsws.
• Vasculitis - o ntawm cov hlab ntsha.

Dab tsi ua rau muaj Blau Syndrome?

Qhov ua rau muaj tus mob Blau syndrome yog kev hloov pauv hauv cov noob NOD2 . Feem ntau cov neeg noj qab nyob zoo, cov noob NOD2 no tsim cov protein hu ua NOD2. Cov protein no pab peb lub cev tiv thaiv kab mob tawm tsam cov kab mob thiab kev kis kab mob. Txawm li cas los xij, yog tias koj tus menyuam muaj tus mob Blau syndrome, cov protein NOD2 no yuav ua haujlwm ntau dhau . Qhov no hloov txoj kev uas lub cev tiv thaiv kab mob ua haujlwm, ua rau mob hnyav uas cuam tshuam rau tus menyuam lub qhov muag, daim tawv nqaij, thiab pob qij txha.

Leej twg muaj feem yuav mob Blau Syndrome?

Yog tias ib tug niam txiv muaj tus kab mob Blau (lossis qhov kev hloov pauv ntawm cov noob caj ces uas ua rau nws), tus menyuam muaj 50% feem pua ​​​​​​ntawm kev txais cov noob caj ces hloov pauv thiab tsim cov kab mob . Tus menyuam yuav tsum tau txais ib qho ntawm cov noob caj ces hloov pauv kom tsim tau tus kab mob. Qhov no txhais tau tias nws yog ib qho mob caj ces uas koom nrog ib pawg hu ua autosomal dominant disorders. Qee zaum, tus menyuam tuaj yeem txais cov noob caj ces hloov pauv no thiab tsis tsim Blau syndrome. Txawm li cas los xij, tus menyuam muaj 50% feem pua ​​​​​​ntawm kev xa cov noob caj ces hloov pauv mus rau lawv cov menyuam yav tom ntej.

Cov kws kho mob twg kuaj mob thiab kho Blau Syndrome?

Nyob ntawm seb koj tus menyuam cov tsos mob li cas, nws yuav xav tau kev kho mob los ntawm pab pawg kws tshwj xeeb, suav nrog:

• Ib tug kws kho mob rheumatologist (tus kws kho mob uas tshwj xeeb hauv cov kab mob pob qij txha) rau mob pob qij txha thiab cov teeb meem ntsig txog pob qij txha .
• Kws kho mob tawv nqaij (kws kho mob tawv nqaij tshwj xeeb) rau cov kab mob ntawm daim tawv nqaij .
• Kws kho qhov muag (kws kho qhov muag) rau cov teeb meem pom kev .

Cov kws kho mob kuaj mob Blau Syndrome li cas?

Cov kev kuaj mob uas yuav kuaj tau tus mob Blau syndrome no yuav txawv nyob ntawm seb koj tus menyuam muaj mob dab tsi. Tej zaum yuav muaj kev kuaj ntshav los txheeb xyuas qhov kev hloov pauv ntawm cov noob caj noob ces NOD2 uas ua rau muaj tus mob Blau syndrome no. Tej zaum koj tus menyuam yuav muaj ib lossis ntau qhov kev kuaj mob hauv qab no:

• Kev kuaj qhov muagQhov no yuav suav nrog kev ntsuam xyuas xws li optical coherence tomography (OCT) thiab kev ntsuam xyuas thaj chaw pom.
• Kev kuaj duab : MRI scan, CT scan, ultrasound, lossis X-rays los saib cov pob qij txha thiab lwm yam kabmob nyob ntawm seb cov tsos mob.
• Kev kuaj tawv nqaij : Muab ib daim tawv nqaij me me los kuaj.

Cov kev kuaj ua ntej yug menyuam puas tuaj yeem kuaj pom Blau Syndrome?

Cov kev kuaj ua ntej yug menyuam xws li kev kuaj chorionic villus lossis amniocentesis tsis yog kuaj tshwj xeeb rau qhov kev hloov pauv ntawm NOD2 gene.

Lwm lub npe rau Blau Syndrome yog dab tsi?

Koj tus menyuam tus kws kho mob kuj tseem yuav hu Blau syndrome los ntawm ib qho ntawm cov npe no:

• Mob pob qij txha granulomatous rau menyuam yaus
• Arthrocutaneous uveal granulomatosis
• Kev mob granulomatosis hauv tsev neeg
• Cov kab mob granulomatosis hauv tsev neeg rau cov menyuam yaus
• Granulomatous inflammatory arthritis, dermatitis thiab uveitis

Blau Syndrome tsis tshua muaj pes tsawg?

Kab mob Blau yog ib yam kab mob tsis tshua muaj . Thoob ntiaj teb, nws cuam tshuam tsawg dua ib ntawm ib lab tus menyuam .

Cov kws kho mob kho Blau Syndrome li cas?

Pab neeg kho mob ntawm koj tus menyuam yuav sim kho ntau yam mob kom txo cov tsos mob thiab tiv thaiv kom tsis txhob muaj kab mob rov tshwm sim dua. Cov kev xaiv kho mob sib txawv nyob ntawm tus mob thiab qhov hnyav ntawm tus mob. Tej zaum yuav muaj xws li:

• Cov tshuaj tiv thaiv kab mob : Cov tshuaj xws li corticosteroids, methotrexate, thiab tumor necrosis factor (TNF) inhibitors.
• Cov tshuaj tiv thaiv kev o : Cov tshuaj xws li cov tshuaj nonsteroidal anti-inflammatory (NSAIDs).
• Cov tshuaj kho qhov muag thiab/lossis phais qhov muag rau cataracts thiab glaucoma .
• Kev kho lub cev thiab kev kho mob ua haujlwm .

Yav tom ntej ntawm ib tug neeg uas muaj Blau Syndrome yuav zoo li cas?

Txawm hais tias tsis muaj kev kho mob tshwj xeeb rau Blau syndrome, kev kho mob tuaj yeem tswj cov tsos mob thiab muab lub neej zoo rau koj tus menyuam mus txog thaum laus.Nws tuaj yeem pab tau. Txoj kev uas tus mob no cuam tshuam rau txhua tus neeg yog txawv. Ib txoj kev tshawb fawb pom tias 40% ntawm cov menyuam yaus uas muaj tus kab mob Blau muaj cov tsos mob me me thiab muaj peev xwm ua ub ua no tau zoo ib yam li lwm cov menyuam yaus hnub nyoog lawv. Txawm li cas los xij, kwv yees li 10% ntawm cov menyuam yaus muaj cov tsos mob hnyav. Yog tias tus kab mob Blau cuam tshuam rau cov kabmob tseem ceeb hauv lub cev, nws tuaj yeem ua rau tus neeg lub neej luv dua .

Puas tiv thaiv tau Blau Syndrome?

Yog tias koj lossis koj tus khub muaj qhov kev hloov pauv ntawm cov noob caj noob ces uas ua rau muaj Blau syndrome, nws yog ib lub tswv yim zoo kom mus ntsib tus kws pab tswv yim txog noob caj noob ces ua ntej muaj menyuam. Tus kws tshwj xeeb no tuaj yeem tham nrog koj txog qhov kev pheej hmoo ntawm koj cov xeeb ntxwv yav tom ntej yuav tau txais cov noob caj noob ces NOD2 uas tau hloov pauv.

Kuv yuav tsum mus ntsib kws kho mob thaum twg?

Mus ntsib kws kho mob tam sim ntawd yog tias koj tus menyuam muaj ib qho ntawm cov hauv qab no:

• Yog tias koj muaj teeb meem tuav tej yam, khoov koj cov pob qij txha, lossis txav mus los .
• Yog tias muaj mob hnyav heev .
• Yog koj muaj teeb meem pom kev .

Kuv yuav tsum nug kuv tus kws kho mob li cas?

Koj tuaj yeem nug koj tus kws kho mob cov lus nug zoo li no:

• Ua cas kuv tus menyuam thiaj muaj tus mob Blau Syndrome?
• Cov tshuaj thiab kev kho mob twg yuav pab tau kuv tus menyuam?
• Kuv tus txiv/tus poj niam puas yuav tsum tau kuaj noob caj noob ces?
• Kuv puas yuav tsum tau ceev faj txog cov cim qhia tias muaj teeb meem?

Qhov txawv ntawm Blau Syndrome thiab Early-Onset Sarcoidosis yog dab tsi?

Kab mob Blau thiab kab mob sarcoidosis thaum ntxov yog tib yam kab mob , nrog rau cov tsos mob zoo ib yam. Txawm li cas los xij, cov menyuam yaus uas muaj kab mob Blau tau txais kev hloov pauv ntawm cov noob caj noob ces uas ua rau muaj kab mob. Cov menyuam yaus uas muaj kab mob sarcoidosis thaum ntxov tsis muaj keeb kwm tsev neeg ntawm kab mob Blau. Qhov no txhais tau tias cov noob caj noob ces NOD2 hloov pauv lossis hloov pauv qee zaum , tsis muaj laj thawj pom tseeb. Qhov no hu ua kev hloov pauv ntawm cov noob caj noob ces de novo.

Thaum kawg, tej yam uas yuav tsum nco ntsoov

Kev saib xyuas ib tug menyuam uas muaj mob ntev xws li Blau Syndrome tuaj yeem nyuaj heev. Yog tias koj muaj Blau Syndrome, koj yuav siv tau koj tus kheej txoj kev paub los txhawb koj tus menyuam zoo dua. Koj kuj tseem siv tau koj txoj kev paub los pab koj tus menyuam nyob nrog tus mob no mus ib txhis. Qhov tseem ceeb tshaj plaws yog nrhiav kev kho mob los ntawm ib tus kws tshwj xeeb uas paub txog mob pob qij txha, mob uveitis, thiab mob tawv nqaij uas cuam tshuam nrog Blau Syndrome. Lawv tuaj yeem pab koj tus menyuam tswj lawv cov tsos mob thiab pab lawv muaj lub neej thaum yau zoo tshaj plaws. Yog tias koj pom muaj cov tsos mob, tsis txhob tsis quav ntsej lawv. Mus ntsib kws kho mob tam sim ntawd.Blau Syndrome, Pediatrics, Cov Kab Mob Tawv Nqaij, Mob Pob Qij Txha, Uveitis, Cov Kab Mob Genetic, NOD2 Gene