Ese umwana wawe afite ibi bimenyetso? Reka tuvuge kuri Blau Syndrome.

Ese umwana wawe akunze kugira uduheri? Cyangwa se uvuga ko ingingo ze zibabara? Ese amaso ye rimwe na rimwe atukura kandi amaso ye agasa n'aho atabona neza? Nubwo kimwe cyangwa bibiri muri ibi bishobora kubaho, rimwe na rimwe byose bishobora kubaho icyarimwe. Uyu munsi tugiye kuvuga ku ndwara idasanzwe ariko ikomeye cyane ugomba kumenya. Iyo ni Blau Syndrome .

Indwara ya Blau ni iki?

Muri make, Blau Syndrome ni indwara idakunze kugaragara yo kubyimba ifata uruhu rw'umwana wawe, ingingo ze, n'amaso ye . 'Inflammation' bivuze kubyimba no gutukura mu mubiri. Impamvu nyamukuru y'iyi ndwara ni ihinduka ry'uturemangingo umwana avukana . Akenshi, ibimenyetso nk'uduheri ku ruhu, ububabare bw'ingingo, cyangwa rubagimpande bitangira umwana atarageza ku myaka 5. Ishobora kandi gutera indwara yitwa uveitis, igira ingaruka ku kureba.

Izina "Blau Syndrome" risobanura iki?

Iyo wumvise iri zina, ushobora kwibaza icyo ari cyo. Reka turebe icyo aya magambo abiri asobanura:

• Blau: Mu by’ukuri iri ni izina ry’umuganga. Mu 1985, Dr. Edward Blau, wahoze ari umuganga w’abana muri Wisconsin, yasohoye inyandiko y’ubushakashatsi kuri iyi ndwara. Yasobanuye umuryango wari umaze ibisekuru bine urwaye iyi ndwara.
• Syndrome: Mu buvuzi, syndrome ni indwara aho ibimenyetso byinshi bifitanye isano bihurira bigafata ibice bitandukanye by'umubiri. Ni ukuvuga uruvange rw'ibimenyetso aho kuba indwara imwe.

Ni ibihe bimenyetso by'indwara ya Blau Syndrome?

Ibimenyetso bya Blau syndrome akenshi bitangira mu bwana . Akenshi, ibi bimenyetso bigaragara ku myaka 5. Bigira ingaruka ku ruhu rw'umwana, ingingo ze n'amaso ye .

Ibimenyetso by'uruhu

Ikimenyetso cya mbere cya Blau syndrome ni indwara y'uruhu yitwa granulomatous dermatitis. Iyi ni uduheri tugaragara ku ruhu. Akenshi tugaragara ku maboko, ku maguru, cyangwa ahandi hantu h'umubiri, nko mu gituza no mu nda, mu mwaka wa mbere w'ubuzima bw'umwana . Ubu bwoko bwa dermatitis bushobora gutera ibimenyetso nka:

• Utubyimba cyangwa uduce duto dushobora kumva munsi y'uruhu rw'umwana wawe . Ibi byitwa granulomas.
• Uruhu ruhinduka nk'ururabo .
• Uduheri dutukura, umuhondo, cyangwa umukara ku ruhu rw'umwana, uruhu rwo hejuru.Utubyimba turagaragara.

Ibimenyetso mu ngingo

Indwara ya Blau ishobora gutera kubyimba kw'ingingo z'umwana wawe, byitwa synovium. Umwana wawe ashobora kurwara rubagimpande mu bice nko mu maboko, mu maboko, mu birenge no mu tuguru hagati y'imyaka 2 na 4. Ibimenyetso bya rubagimpande birimo:

• Kubabara ingingo .
• Ububabare bw'imitsi , cyane cyane mu mitsi.
• Kubyimba cyangwa gukomera kw'ingingo .

Tekereza umwana wawe aramutse ariye mu gitondo, adashobora kwimura amaguru n'amaboko ye, cyangwa ahora yinubira ko ingingo ze zibabara iyo agiye gukina, ugomba kugira impungenge kuri ibyo.

Ibimenyetso by'amaso

Abana bagera kuri 80% barwaye indwara ya Blau syndrome bagira ikibazo cy'amaso cyitwa uveitis. Uveitis ni indwara ifata urwego rwo hagati rw'ijisho, yitwa uvea. Ishobora kugira ingaruka ku mitsi y'amaso y'umwana ndetse n'imitsi y'amaso. Umwana ashobora kugira uveitis mu maso yombi , kandi ishobora no gutuma atabona neza . Ibimenyetso bya uveitis birimo:

• Kutabona neza.
• Ubona utudomo duto tw'umukara ( utudomo tw'amaso) tugenda imbere y'amaso yawe.
• Umva ububabare cyangwa igitutu mu maso yawe .
• Ubutukura bw'amaso .
• Ubushobozi bwo kubona urumuri (photosensitivity) , bivuze ko bigoye kubona urumuri.
• Kubyimba amaso .

Ni gute indwara ya Blau Syndrome igira ingaruka ku bindi bice by'umubiri?

Nubwo ibi bidakunze kubaho, umwana wawe urwaye indwara ya Blau ashobora kurwara indwara zishobora gushyira ubuzima mu kaga muri izi ngingo:

• Imitsi y'amaraso
• Ubwonko
• Umutima
• Umwijima
• Uduce tw'amaraso mu maraso (urusobe rw'amaraso mu maraso)
• Umugongo

Ni izihe ngorane zishobora guterwa na Blau Syndrome?

Indwara yo kubyimba iterwa na Blau syndrome ishobora gutera ingorane nka:

• Indwara zo mu maso, glaucoma, edema ya cystoid macular, gucika kw'amaso, no gutakaza ubushobozi bwo kureba burundu..
• Kugorwa no kwimuka no guhindagurika kw'ingingo yangiritse.
• Indwara z'impyiko n'impyiko zinanirwa gukora neza .
• Umutima ubyimba.
• Urwagashya rwagutse.
• Ubumenyi bw'imitsi - ibibazo by'imitsi.
• Umuvuduko ukabije w'amaraso mu bihaha - umuvuduko ukabije w'amaraso mu bihaha.
• Vasculitis - kubyimba kw'imitsi y'amaraso.

Ni iki gitera indwara ya Blau syndrome?

Impamvu nyamukuru itera indwara ya Blau syndrome ni impinduka mu ngirabuzimafatizo ya NOD2 . Ku bantu benshi bazima, iyi ngirabuzimafatizo ya NOD2 ikora poroteyine yitwa NOD2. Iyi poroteyine ifasha ubudahangarwa bwacu bw'umubiri kurwanya mikorobe n'indwara zandura. Ariko, niba umwana wawe afite indwara ya Blau syndrome, iyi poroteyine ya NOD2 ikora cyane . Ibi bihindura uburyo ubudahangarwa bw'umubiri bukora, bigatera ububyimbirwe bukomeye bugira ingaruka ku maso y'umwana, uruhu rwe, n'ingingo ze.

Ni nde uri mu kaga ko kurwara indwara ya Blau Syndrome?

Iyo umwe mu babyeyi afite indwara ya Blau syndrome (cyangwa ihinduka ry’uturemangingo riyitera), umwana afite amahirwe 50% yo kurwara gene yahindutse no kurwara iyo ndwara . Umwana agomba kurwara imwe muri gene zahindutse kugira ngo arware iyi ndwara. Ibi bivuze ko ari indwara y’uturemangingo iri mu itsinda ryitwa autosomal dominant disorders. Hari igihe umwana ashobora kurwara iyi ndwara ariko ntarware Blau syndrome. Ariko, umwana afite amahirwe 50% yo kwanduza abana be iyo ndwara mu gihe kizaza.

Ni ubuhe bwoko bw'abaganga basuzuma kandi bakavura indwara ya Blau Syndrome?

Bitewe n'ibimenyetso by'umwana wawe, ashobora gukenera kuvurwa n'itsinda ry'inzobere, barimo:

• Inzobere mu ndwara z'ingingo (rubagimpande) ku ndwara z'ingingo n'izindi zifitanye isano n'ingingo .
• Inzobere mu ndwara z'uruhu (dermatologist) ku ndwara z'uruhu .
• Inzobere mu by'amaso (inzobere mu by'amaso) ku bibazo byo kureba .

Ni gute abaganga bapima indwara ya Blau Syndrome?

Ibizamini byo gusuzuma indwara ya Blau biratandukanye bitewe n'ibimenyetso by'umwana wawe. Ikizamini cy'uturemangingo (ikizamini cy'amaraso) gishobora gukorwa kugira ngo hamenyekane impinduka mu turemangingo twa NOD2 itera indwara ya Blau. Umwana wawe ashobora kandi gukora kimwe cyangwa byinshi muri ibi bikurikira:

• Isuzuma ry'amasoIbi bishobora kuba birimo ibizamini nka optical coherence tomography (OCT) n'ibizamini byo gusuzuma imiterere y'umubiri.
• Ibizamini byo gupima : MRI scan, CT scan, ultrasound, cyangwa X-rays kugira ngo harebwe ingingo n'izindi ngingo bitewe n'ibimenyetso.
• Isuzuma ry'uruhu : Gufata agace gato k'uruhu kugira ngo gasuzumwe.

Ese ibizamini byo gupima mbere yo kubyara bishobora kugaragaza indwara ya Blau Syndrome?

Ibizamini mbere yo kubyara nka chorionic villus sampling cyangwa amniocentesis ntibipima mu buryo bwihariye impinduka za gene za NOD2.

Ni ayahe mazina yandi ya Blau Syndrome?

Muganga w'umwana wawe ashobora kandi kwita Blau syndrome rimwe muri aya mazina:

• Indwara ya rubagimpande yo mu bana ifite granulomatous
• Indwara ya Arthrocutaneous uvular granulomatosis
• Indwara yo mu muryango (familial granulomatosis)
• Indwara yo mu muryango y’abana bato yo mu bwoko bwa granulomatosis
• Udukoko two mu bwoko bwa granulomatous inflammatory arthritis, dermatitis na uveitis

Ni mu rugero rungana iki indwara ya Blau Syndrome iba idasanzwe?

Indwara ya Blau ni indwara idakunze kugaragara cyane . Ku isi yose, yibasira abana bari munsi y'umwe muri miliyoni .

Ni gute abaganga bavura indwara ya Blau Syndrome?

Itsinda ry'abaganga b'umwana wawe rizagerageza kuvura indwara zitandukanye kugira ngo bagabanye ibimenyetso kandi hirindwe ko indwara ikomeza kwiyongera. Uburyo bwo kuvura buratandukanye bitewe n'indwara n'ubukana bwayo. Bushobora kuba burimo:

• Imiti igabanya ubukana bw'umubiri : Imiti nka corticosteroids, methotrexate, na tumor necrosis factor (TNF) ibuza umubiri kugira icyo ukora.
• Imiti igabanya ubushyuhe : Imiti nk'imiti igabanya ubushyuhe itari iya steroide (NSAIDs).
• Imiti y'amaso cyangwa kubagwa amaso ku ndwara ya kataract na glaucoma .
• Ubuvuzi bw'umubiri n'ubuvuzi bw'akazi .

Ejo hazaza h'umuntu urwaye Blau Syndrome ni he?

Nubwo nta muti wihariye w’indwara ya Blau, kuyivura bishobora kugabanya ibimenyetso no guha umwana wawe ubuzima bwiza kugeza akuze.Bishobora gufasha. Uburyo iyi ndwara igira ingaruka kuri buri wese buratandukanye. Ubushakashatsi bumwe bwagaragaje ko 40% by'abana barwaye indwara ya Blau bagaragaje ibimenyetso byoroheje kandi bashoboraga kugira imbaraga nk'abandi bana bo mu kigero cyabo. Ariko, abana bagera kuri 10% bagaragaza ibimenyetso bikomeye. Iyo indwara ya Blau igize ingingo zikomeye mu mubiri, ishobora kugabanya igihe umuntu akiriho cyo kubaho .

Ese indwara ya Blau syndrome ishobora kwirindwa?

Niba wowe cyangwa umukunzi wawe mufite ihinduka ry’uturemangingo ritera indwara ya Blau syndrome, ni byiza kureba umujyanama mu by’uturemangingo mbere yo kubyara abana. Uyu muganga ashobora kukubwira ingaruka zishobora gutuma abazagukomokaho bazaragwa iyo gene yahinduwe ya NOD2.

Ni ryari ngomba kujya kwa muganga?

Shaka muganga ako kanya niba umwana wawe afite kimwe muri ibi bikurikira:

• Niba ufite ikibazo cyo gufata ibintu, kunama ingingo zawe, cyangwa kugenda .
• Niba hari ububabare bukabije .
• Niba ufite ibibazo byo kutabona neza .

Ni iki ngomba kubaza muganga wanjye?

Ushobora kubaza muganga wawe ibibazo nk'ibi:

• Ni iki gituma umwana wanjye agira indwara ya Blau Syndrome?
• Ni iyihe miti n'uburyo bwo kuvura bishobora gufasha umwana wanjye?
• Ese umugabo wanjye/umugore wanjye n'umuntu twakwipimisha imiterere y'uturemangingo?
• Ese nkwiye kwitondera ibimenyetso by'ingorane?

Ni irihe tandukaniro riri hagati ya Blau Syndrome na Early-Onset Sarcoidosis?

Indwara ya Blau syndrome na sarcoidosis yo mu ntangiriro mu by’ukuri ni indwara imwe , ifite ibimenyetso bimwe. Ariko, abana bafite Blau syndrome baragwa impinduka mu ngirabuzimafatizo zitera iyi ndwara. Abana bafite sarcoidosis yo mu ntangiriro ntibaba bafite amateka ya Blau syndrome mu muryango wabo. Ibi bivuze ko ngirabuzimafatizo ya NOD2 ihinduka cyangwa igahinduka rimwe na rimwe , nta mpamvu igaragara. Ibi byitwa de novo gene mutation.

Amaherezo, ibintu byo kwibuka

Kwita ku mwana ufite indwara idakira nka Blau Syndrome bishobora kugorana. Niba ufite Blau Syndrome, ushobora gukoresha ubunararibonye bwawe bwite kugira ngo ufashe neza umwana wawe. Ushobora kandi gukoresha ubunararibonye bwawe kugira ngo ufashe umwana wawe kubaho muri iyi ndwara ubuzima bwe bwose. Icy'ingenzi ni ukugana abaganga b'inzobere bazi indwara ya rubagimpande, uveitis, n'indwara z'uruhu zijyanye na Blau Syndrome. Bashobora gufasha umwana wawe gucunga ibimenyetso bye no kumufasha kugira ubwana bwiza bushoboka. Niba ubonye ibimenyetso, ntubyirengagize. Shaka muganga ako kanya.Indwara ya Blau, Indwara z'abana, Indwara z'uruhu, rubagimpande, Uveitis, Indwara z'uturemangingo, NOD2 Gene