Yu smɔl pikin gɛt dɛn sik ya? Lɛ wi tɔk bɔt Blau Syndrome.

Yu smɔl pikin kin gɛt rash bɔku tɛm? Ɔ yu se in jɔyn dɛn de at? Sɔntɛnde, in yay kin rɛd ɛn i kin tan lɛk se i nɔ de si smɔl? Pan ɔl we wan ɔ tu pan dɛn tin ya kin apin, sɔntɛnde dɛn ɔl kin apin togɛda. Tide wi go tɔk bɔt wan rare bɔt rili impɔtant mɛdikal kɔndishɔn fɔ no bɔt. Dat na di sik we dɛn kɔl Blau Syndrome .

Wetin na Blau Sindrom?

Fɔ tɔk am simpul wan, Blau Syndrome na wan sik we nɔ kin apin so ɔltɛm we kin ambɔg yu pikin in skin, in jɔyn dɛn, ɛn in yay . ‘Inflammation’ min se yu de swel ɛn rɛd insay di bɔdi. di men tin we kin mek dis sik na di jεnεtik mכtεshכn we dεn bכn di pikin wit . Bɔku tɛm, di sayn dɛm lɛk we di pikin de rɔsh, di jɔyn dɛn we de pen, ɔ at at sik kin bigin bifo di pikin ol 5 ia . I kin mek bak wan sik we dɛn kɔl uveitis, we kin afɛkt di we aw pɔsin de si.

Wetin di nem "Blau Syndrome" min?

We yu yɛri dis nem, yu go de wɔnda wetin na dis. Lɛ wi tek tɛm luk wetin dɛn tu wɔd ya min:

• Blau: Dis na akchuali nem of dokta. Insay 1985, Dɔktɔ Ɛdwado Blau, we na bin dɔktɔ we de mɛn pikin dɛn na Wiskɔsin, bin pul wan risach pepa bɔt dis sik. I bin tɔk bɔt wan famili we bin dɔn sɔfa wit dis sik fɔ 4 jɛnɛreshɔn.
• Sindrom: Insay mɛrɛsin, sindrom na wan sik wae gɛt sɔm kayn sik wae gɛt fɔ du wit dis sik kin kam togɛda ɛn afɛkt difrɛn pat dɛm na di bɔdi. Dat min se, na wan kɔmbayn sayn dɛn pas wan sik.

Wetin na di sayn dɛm wae de sho se yu gɛt Blau Syndrome?

Di sayn dɛm fɔ Blau syndrome kin bigin we dɛn smɔl . Bɔku tɛm, dɛn sayn ya kin apin we yu ol 5. Dɛn kin afɛkt yu pikin in skin, in jɔyn dɛn, ɛn in yay mɔ .

Di sayn dɛn we pɔsin kin si na di skin

Di fɔs sayn fɔ Blau syndrome na wan sik we de na di skin we dɛn kɔl granulomatous dermatitis. Dis na rash we de sho pan di skin. I kin apin na di an, leg, ɔ ɔda say dɛn na di bɔdi, lɛk in chɛst ɛn bɛlɛ, insay di fɔs ia we di pikin dɔn liv . Dis kayn dɛmatitis kin mek yu gɛt sɔm sayn dɛm lɛk:

• Had lumps ɔ nodul dɛn we yu kin fil ɔnda yu pikin in skin . Dɛn kɔl dɛn tin ya granulomas.
• Di skin kin tan lɛk kɔral .
• Rɛd, yɔlɔ, ɔ brawn blista dɛn na di ɔp layt na di pikin in skin, we na di epidamis.Bɔmp dɛn kin apia.

Di simptom dɛm na di jɔyn dɛm

Blau syndrome kin mek di layn na yu pikin in joyn dɛn inflamɛns, we dɛn kɔl di synovium. Yu pikin kin gɛt at at sik na say dɛm lɛk in an, in an, in fut, ɛn in ankles bitwin 2 ɛn 4. Di sayn dɛm fɔ at at sik na:

• Jɔyn pen .
• Mɔsul ɛn skel pen , mɔ na di tɛndon dɛn.
• Joint de swel ɔ stiff .

Imajin if yu smɔl pikin de kray we i wek na mɔnin, i nɔ ebul fɔ muv in an ɛn fut dɛn, ɔ if i de kɔmplen ɔltɛm se in jɔyn dɛn de at we i de go ple, yu nid fɔ wɔri bɔt dat.

Di sayn dɛn we pɔsin kin si na di yay

Na lɛk 80% pan di pikin dɛn we dɛn no se gɛt Blau sindrom kin gɛt wan sik we dɛn kɔl uveitis. Yuveitis na inflamɛns na di midul layt na di yay, we dɛn kɔl uvea. I kin afɛkt di pikin in retina ɛn di optik nɛv dɛn. Pikin kin gɛt uveitis na in tu yay , ɛn i kin mek bak i nɔ de si fayn . Di sayn dɛm fɔ uveitis na:

• Lɔw vishɔn .
• Yu si smɔl blak dɔt dɛn (ay flota ) de muv rawnd bifo yu yay.
• Yu kin fil pen ɔ prɛshɔn na yu yay .
• Di yay dɛn we de rɛd .
• Fɔtosɛnsitiviti , we min se i kin at fɔ si layt.
• Di yay dɛn we de swel .

Aw Blau Syndrome kin afɛkt ɔda pat dɛm na di bɔdi?

Pan ɔl we dis nɔ kin apin so ɔltɛm, yu pikin we gɛt Blau syndrome kin gɛt inflammatory conditions we kin mek i day pan dɛn ɔgan ya:

• Blɔd vesel dɛn
• Bren
• At
• Liva
• Limf no dεm (limfatik sistεm) .
• Spleen we de na di bɔdi

Wetin na de prɔblɛm wae kin kam wit Blau Syndrome?

Di inflammatory kondishɔn we Blau syndrome kin kam wit kin mek yu gɛt prɔblɛm dɛn lɛk:

• Katarakt, glaukoma, cystoid macular edema, rεtina detachmεnt, εn komplit lכs fכ si.
• i at fכ muv εn fכ fleks di jכint we afekt fכ pεrmanεnt.
• Kidni sik ɛn kidni we nɔ de wok fayn .
• At inflamɛns.
• Spleen we dɔn big.
• Nyuropati - prɔblɛm wit di nerv.
• Pulmonary hypertension - hεy bכdi prεshכn na di lכng dεm.
• Vasculitis - inflameshn na di bכdi vεsul dεm.

Wetin kin mek pɔsin gɛt Blau Syndrome?

di men kכz fכ Blau sεndrכm na wan mכtεshכn na di NOD2 jin . pan bכku pipul dεm we gεt hεlth, dis NOD2 jin de mek wan protin we dεn kכl NOD2. Dis protin de ɛp wi imyun sistɛm fɔ fɛt jem ɛn infɛkshɔn. Bɔt if yu pikin gɛt Blau syndrome, dis NOD2 protin kin bi ɔva aktiv . Dis kin chenj di we aw di imyun sistɛm de wok, ɛn dis kin mek i gɛt bad bad inflamɛns we kin afɛkt di pikin in yay, in skin, ɛn in jɔyn dɛn.

Udat de pan denja fɔ gɛt Blau Syndrome?

If wan mama ɔ papa gɛt Blau syndrome (ɔ di jin mutation we de mek i apin), di pikin gɛt 50% chans fɔ gɛt di jin we dɔn chenj ɛn gɛt di syndrome . di pikin fכ gεt wan pan di jin dεm we dεn chenj fכ mek i gεt di sik. dis min se na jεnεtik kכndishכn we de pan wan grup we dεn kכl כtosomal dכminant dizכrd. Sɔntɛnde, pikin kin gɛt dis jin muteshon ɛn i nɔ kin gɛt Blau syndrome. כltu, di pikin gεt 50% chans fכ pas di jin we dεn chenj to dεn pikin dεm insay di fכs tεm.

Us kayn dɔktɔ dɛn kin no ɛn trit Blau Syndrome?

Dipen pan di sayn dɛm we yu pikin gɛt, i kin nid tritmɛnt frɔm wan tim fɔ spɛshal pipul dɛm, lɛk:

• Wan dɔktɔ we de mɛn rεumatɔlɔjis (dɔktɔ we spɛshal pan jɔyn sik dɛn) fɔ at at ɛn prɔblɛm dɛn we gɛt fɔ du wit jɔyn dɛn .
• Wan dɔktɔ we de mɛn di skin (spɛshal pɔsin we sabi bɔt di skin) fɔ sik dɛn we de ambɔg di skin .
• Wan dɔktɔ we de mɛn pipul dɛn we gɛt yay (spɛshal pɔsin we sabi bɔt di yay) fɔ di wan dɛn we gɛt prɔblɛm wit di we aw pɔsin de si .

Aw dɔktɔ dɛn kin no se pɔsin gɛt Blau Syndrome?

Di tɛst fɔ no if yu pikin gɛt Blau syndrome kin difrɛn difrɛn wan bay di sayn dɛm we yu pikin gɛt. dεn kin du jεnεtik tεst (blכd tεst) fכ no di NOD2 jin mכtεshכn we de mek Blau sεndrכm. Yu pikin kin gɛt wan ɔ mɔ pan dɛn tɛst ya bak:

• Wan ɛgzam fɔ di yay: Dis kin inklud tεst dεm lεk optik kכhεrens tכmכgrafi (OCT) εn vishכnal fil tεst.
• Imej tɛst : MRI skan, CT skan, ɔltra saund, ɔ X-ray fɔ luk pan jɔyn ɛn ɔda ɔgan dɛn dipen pan di sayn dɛm.
• Skin biopsy : Fɔ tek smɔl pat pan di skin fɔ ɛgzamin.

di tεst dεm we dεn kin du bifo dεn bכn kin no di Blau Syndrome?

prεnatal tεst dεm lεk chorionic villus sampling כ amniocentesis nכ de spεshal tεst fכ di NOD2 jin mכtεshכn.

Wetin na ɔda nem dɛm fɔ Blau Syndrome?

Yu pikin in dɔktɔ kin kɔl Blau syndrome bak wit wan pan dɛn nem ya:

• Pikin dɛn we gɛt granulomatous atraytis
• Artrokutan uveal granulomatosis we de mek pɔsin gɛt
• Famili granulomatosis we kin mek pɔsin gɛt
• Famili juvenail sistemik granulomatosis
• Granulomatous inflammatory arthritis, dɛmatitis ɛn uveitis

Aw rare de Blau Syndrome?

Blau syndrome na wan sik wae nɔr kin bɔrku . Ɔlsay na di wɔl, i nɔ rich wan pan ɛvri milyɔn pikin dɛn .

Aw dɔktɔ dɛn kin trit Blau Syndrome?

Yu pikin in mɛdikal tim go tray fɔ trit difrɛn kayn sik fɔ ridyus di sayn dɛm ɛn fɔ mek di sik nɔ kam. Di tritmɛnt we dɛn kin pik kin difrɛn fɔ di sik ɛn aw i kin tranga. Dɛn tin ya kin bi:

• Immunosuppressants : Drug dεm lεk kכtikostεroyd, mεtכtrεksεt, εn tכmכr nεkrכsis fכktכ (TNF) inhibito dεm.
• Anti-inflammatory drugs : Drug dεm lεk nonsteroidal anti-inflammatory drugs (NSAIDs).
• Ay mɛrɛsin ɛn/ɔ ay ɔpreshɔn fɔ katarakt ɛn glaukoma .
• Fizik tɛrapi ɛn ɔkupeshɔn tɛrapi tritmɛnt dɛn .

Wetin na di fiuja fɔ pɔrsin wae gɛt Blau Syndrome?

Pan ɔl we no patikyula mɛrɛsin nɔ de fɔ Blau sindrom, tritmɛnt kin kɔntrol di sik dɛn ɛn gi yu pikin gud kwaliti layf te i big.I kin ɛp. Di we aw dis sik kin afɛkt ɔlman difrɛn. Wan stכdi sho se 40% pan di pikin dεm we gεt Blau sεndrכm gεt sכm kayn sik dεm εn dεn bin ebul fכ bi aktif lεk כda pikin dεm we dεn ej. Bɔt lɛk 10% pan di pikin dɛn kin gɛt siriɔs sik. If Blau syndrome afɛkt di men ɔgan dɛm na di bɔdi, i kin mek pɔrsin in layf shɔt .

Yu tink se dɛn kin ebul fɔ avɔyd Blau Syndrome?

If yu ɔ yu patna gɛt di jin muteshon we de mek yu gɛt Blau syndrome, i fayn fɔ go to jenɛtik kɔlnɔ bifo yu bɔn pikin. dis spεshal savant kin tכk to yu bכt di risk we yu fכs pikin dεm go gεt di NOD2 jin we dεn chenj.

Ustɛm a fɔ go to dɔktɔ?

Si dɔktɔ wantɛm wantɛm if yu pikin gɛt ɛni wan pan dɛn tin ya:

• If i nɔ izi fɔ yu fɔ ol tin dɛn, fɔ bɛn yu jɔyn dɛn, ɔ fɔ muv .
• If bad bad pen de .
• If yu gɛt prɔblɛm wit yu yay .

Wetin a fɔ aks mi dɔktɔ?

Yu kin aks yu dɔktɔ kwɛstyɔn dɛn lɛk dɛn wan ya:

• Wetin kin mek mi pikin gɛt Blau Syndrome?
• Us mɛrɛsin ɛn tritmɛnt dɛn we go ɛp mi pikin?
• Mi ɛn mi man/wɛf fɔ du jenɛtik tɛst?
• A fɔ wach fɔ sayn dɛn we de sho se a gɛt prɔblɛm?

Wetin na di difrɛns bitwin Blau Syndrome ɛn Early-Onset Sarcoidosis?

Blau syndrome ɛn arcoidosis we kin bigin kwik na di sem sik , wit di sem sayn dɛm. Bɔt pikin dɛn we gɛt Blau syndrome kin gɛt di jin chenj we kin mek dɛn gɛt di sik. Pikin dɛn we gɛt sarkoidosis we kin bigin kwik nɔ gɛt famili histri fɔ Blau sindrom. dis min se di NOD2 jin de chenj כ mכtεt sכmtεm , fכ nכ rizin we de sho. Dɛn kɔl dis de novo jin muteshɔn.

Fɔ dɔn, tin dɛn we wi fɔ mɛmba

Fɔ kia fɔ pikin we gɛt wan sik we nɔ de mɛn lɛk Blau Syndrome kin tranga. If yu gɛt Blau Syndrome, yu kin ebul fɔ yuz yu yon ɛkspiriɛns fɔ sɔpɔt yu pikin fayn fayn wan. Yu kin yuz yu ɛkspiriɛns bak fɔ ɛp yu pikin fɔ liv wit dis sik we i go gɛt fɔ ɔl in layf. De tin wae impɔtant pas ɔl na fɔ go to tritmɛnt frɔm spɛshal dɔktɔ wae sabi de at, uveitis, ɛn skin kɔndishɔn wae gɛt fɔ du wit Blau Syndrome. Dɛn kin ɛp yu pikin fɔ kɔntrol in sik ɛn ɛp am fɔ gɛt di bɛst pikin tɛm. If yu notis ɛni sayn, nɔ ignore am. Si dɔktɔ wantɛm wantɛm.Blau Sindrom, Pikin, Skin Sik, Atraytis, Uveitis, Jɛnɛtik Sik, NOD2 Jin