Ingabe ingane yakho encane inalezi zimpawu? Ake sixoxe nge-Blau Syndrome.

Ingabe ingane yakho encane ivame ukuba namaqhubu? Noma uthi amalunga ayo ayabuhlungu? Ingabe amehlo ayo ngezinye izikhathi aba bomvu futhi umbono wayo ubonakale ungacacile? Nakuba kungenzeka into eyodwa noma ezimbili zalezi zinto, ngezinye izikhathi zonke zingenzeka kanyekanye. Namuhla sizokhuluma ngesimo sezokwelapha esingajwayelekile kodwa esibaluleke kakhulu okufanele sisiqaphele. Leso yi -Blau Syndrome .

Iyini i-Blau Syndrome?

Kalula nje, i-Blau Syndrome iyisifo sokuvuvukala esingavamile esithinta isikhumba, amalunga, namehlo engane yakho. 'Ukuvuvukala' kusho ukuvuvukala nokubomvu emzimbeni. Imbangela eyinhloko yalesi simo ukuguquka kwezakhi zofuzo ingane ezalwa inazo . Ngokuvamile, izimpawu ezifana nokuqubuka kwesikhumba, ubuhlungu bamalunga, noma i-arthritis ziqala ngaphambi kokuba ingane ibe neminyaka emi-5 ubudala . Kungabangela nesimo esibizwa ngokuthi i-uveitis, esithinta umbono.

Lisho ukuthini igama elithi "Blau Syndrome"?

Uma uzwa leli gama, ungase uzibuze ukuthi liyini leli. Ake sibheke ukuthi la magama amabili asho ukuthini:

• UBlau: Empeleni leli igama likadokotela. Ngo-1985, uDkt. Edward Blau, owayengudokotela wezingane eWisconsin, washicilela iphepha locwaningo ngalesi sifo. Wachaza umndeni owawuhlushwa yilesi sifo izizukulwane ezine.
• I-Syndrome: Kwezokwelapha, i-syndrome yisimo lapho izimpawu eziningana ezihlobene zihlangana khona futhi zithinte izingxenye ezahlukene zomzimba. Okusho ukuthi, inhlanganisela yezimpawu kunokuba isifo esisodwa.

Ziyini izimpawu ze-Blau Syndrome?

Izimpawu ze-Blau syndrome zivame ukuqala ebuntwaneni . Ngokuvamile, lezi zimpawu zibonakala lapho umuntu eneminyaka engu-5. Zithinta kakhulu isikhumba, amalunga namehlo engane yakho.

Izimpawu zesikhumba

Isibonakaliso sokuqala se-Blau syndrome yisimo sesikhumba esibizwa ngokuthi i-granulomatous dermatitis. Lokhu ukuqubuka okubonakala esikhumbeni. Ngokuvamile kuvela ezingalweni, emilenzeni, noma kwezinye izindawo zomzimba, njengesifuba nesisu, phakathi nonyaka wokuqala wokuphila kwengane . Lolu hlobo lwe-dermatitis lungabangela izimpawu ezifana nalezi:

• Amaqhubu noma amaqhubu aqinile ongawazwa ngaphansi kwesikhumba sengane yakho . Lawa abizwa ngokuthi ama-granuloma.
• Isikhumba siba njenge-coral .
• Ama-blister abomvu, aphuzi, noma ansundu ongqimbeni oluphezulu lwesikhumba sengane, i-epidermis.Kuvela amaqhubu.

Izimpawu emalungeni

I-Blau syndrome ingabangela ukuvuvukala kolwelwesi lwamalunga engane yakho, olubizwa ngokuthi i-synovium. Ingane yakho ingase ibe nesifo samathambo ezindaweni ezifana nezandla, izihlakala, izinyawo, namaqakala phakathi kweminyaka engu-2 no-4. Izimpawu zesifo samathambo zifaka:

• Ubuhlungu bamalunga .
• Ubuhlungu bemisipha , ikakhulukazi emisipha.
• Ukuvuvukala noma ukuqina kwamalunga .

Cabanga nje uma ingane yakho encane ikhala lapho ivuka ekuseni, ingakwazi ukunyakaza imilenze yayo, noma uma ihlala ikhala ngokuthi amalunga ayo ayabuhlungu lapho iyodlala, udinga ukukhathazeka ngalokho.

Izimpawu zamehlo

Cishe ama-80% ezingane ezitholakale zine-Blau syndrome ziba nesifo samehlo esibizwa ngokuthi i-uveitis. I-Uveitis ukuvuvukala kwengqimba ephakathi yeso, okubizwa ngokuthi i-uvea. Kungathinta ama-retina kanye nezinzwa ze-optic zengane. Ingane ingaba ne-uveitis emehlweni womabili , futhi ingabangela nokulahlekelwa umbono . Izimpawu ze-uveitis zifaka:

• Ukubona okuphansi.
• Ubona amachashazi amancane amnyama (ama-eye floaters ) ehamba phambi kwamehlo akho.
• Uzwa ubuhlungu noma ingcindezi emehlweni akho .
• Ukubomvu kwamehlo .
• Ukuzwela kwe-photosensitivity , okusho ukuthi kuba nzima ukubona ukukhanya.
• Ukuvuvukala kwamehlo .

I-Blau Syndrome izithinta kanjani ezinye izingxenye zomzimba?

Nakuba lokhu kungavamile kakhulu, ingane yakho ene-Blau syndrome ingase ibe nezimo zokuvuvukala ezingasongela impilo kulezi zitho zomzimba:

• Imithambo yegazi
• Ubuchopho
• Inhliziyo
• Isibindi
• Ama-lymph node (uhlelo lwe-lymphatic)
• Ubende

Yiziphi izinkinga ezingaba khona ze-Blau Syndrome?

Isimo sokuvuvukala esibangelwa yi-Blau syndrome singaholela ezinkingeni ezifana nalezi:

• Ama-cataract, i-glaucoma, i-cystoid macular edema, ukuqhekeka kwe-retinal, kanye nokulahlekelwa umbono ngokuphelele.
• Ubunzima bokunyakaza kanye nokugoba unomphela kwelungu elithintekile.
• Isifo sezinso kanye nokwehluleka kwezinso .
• Ukuvuvukala kwenhliziyo.
• Ubende obukhulu.
• I-Neuropathy - izinkinga zemizwa.
• Umfutho wegazi ophezulu emaphashini - umfutho wegazi ophezulu emaphashini.
• I-Vasculitis - ukuvuvukala kwemithambo yegazi.

Yini ebangela i-Blau Syndrome?

Imbangela eyinhloko ye-Blau syndrome ukuguquka kwezakhi zofuzo ze-NOD2 . Kwabaningi abantu abaphilile, lesi sakhi sofuzo se-NOD2 sikhiqiza iphrotheni ebizwa ngokuthi i-NOD2. Le phrotheni isiza amasosha omzimba ethu ukulwa namagciwane kanye nokutheleleka. Kodwa-ke, uma ingane yakho ine-Blau syndrome, le phrotheni ye-NOD2 iba namandla ngokweqile . Lokhu kushintsha indlela amasosha omzimba asebenza ngayo, okubangela ukuvuvukala okukhulu okuthinta amehlo, isikhumba kanye namalunga engane.

Ubani osengozini yokuthola i-Blau Syndrome?

Uma omunye umzali ene-Blau syndrome (noma ukuguquka kwezakhi zofuzo okuyimbangela), ingane inethuba elingu-50% lokuthola ifa le-gene eshintshiwe kanye nokuthuthukisa i-syndrome . Ingane kumele izuze elinye lala ma-gene ashintshiwe ukuze ithuthukise lesi sifo. Lokhu kusho ukuthi yisimo sezakhi zofuzo esiseqenjini elibizwa ngokuthi i-autosomal dominant disorders. Ngezinye izikhathi, ingane ingazuza leli gciwane le-gene futhi ingalitholi i-Blau syndrome. Kodwa-ke, ingane inethuba elingu-50% lokudlulisela i-gene eshintshiwe ezinganeni zayo esikhathini esizayo.

Hlobo luni lodokotela abaxilonga futhi belapha i-Blau Syndrome?

Kuye ngezimpawu zengane yakho, ingadinga ukwelashwa eqenjini lochwepheshe, okuhlanganisa:

• Udokotela wezifo zamalunga (udokotela ogxile ezifweni zamalunga) wezifo zamalunga nezinkinga ezihlobene namalunga .
• Udokotela wesikhumba (uchwepheshe wesikhumba) wezifo zesikhumba .
• Udokotela wamehlo (uchwepheshe wamehlo) wezinkinga zokubona .

Odokotela bayixilonga kanjani i-Blau Syndrome?

Ukuhlolwa kokuxilonga i-Blau syndrome kuyahlukahluka kuye ngezimpawu zengane yakho. Ukuhlolwa kofuzo (ukuhlolwa kwegazi) kungenziwa ukuze kutholakale ukuguqulwa kofuzo lwe-NOD2 okubangela i-Blau syndrome. Ingane yakho ingase ibe nokuhlolwa okukodwa noma ngaphezulu kwalokhu okulandelayo:

• Ukuhlolwa kwamehloLokhu kungafaka phakathi ukuhlolwa okufana ne-optical coherence tomography (OCT) kanye nokuhlolwa kwensimu ebonakalayo.
• Ukuhlolwa kwezithombe : I-MRI scan, i-CT scan, i-ultrasound, noma i-X-ray ukuze kubhekwe amalunga nezinye izitho kuye ngezimpawu.
• I-biopsy yesikhumba : Ukuthatha ingxenye encane yesikhumba ukuze iyohlolwa.

Ingabe ukuhlolwa kwangaphambi kokubeletha kungayithola i-Blau Syndrome?

Ukuhlolwa kwangaphambi kokubeletha okufana nokuhlolwa kwe-chorionic villus noma i-amniocentesis akuhlolisi ngokuqondile ukuguqulwa kwezakhi zofuzo ze-NOD2.

Yimaphi amanye amagama e-Blau Syndrome?

Udokotela wengane yakho angase abize i-Blau syndrome ngelinye lala magama:

• I-arthritis ye-granulomatous yezingane
• I-granulomatosis ye-arthrocutaneous uvular
• I-granulomatosis yomndeni
• I-granulomatosis yesistimu yomndeni yentsha
• I-arthritis yokuvuvukala kwe-granulomatous, i-dermatitis kanye ne-uveitis

I-Blau Syndrome ingavamile kangakanani?

I-Blau syndrome iyisifo esingavamile kakhulu . Emhlabeni wonke, ithinta izingane ezingaphansi kweyodwa kwesigidi .

Odokotela baphatha kanjani i-Blau Syndrome?

Ithimba lezokwelapha lengane yakho lizozama ukwelapha izimo ezahlukahlukene ukuze kuncishiswe izimpawu futhi kuvinjelwe ukuqubuka kwesifo. Izindlela zokwelapha ziyahlukahluka kuye ngesimo kanye nobunzima baso. Zingafaka:

• Ama-immunosuppressants : Izidakamizwa ezifana nama-corticosteroids, i-methotrexate, kanye nama-tumor necrosis factor (TNF) inhibitors.
• Imithi yokulwa nokuvuvukala : Imithi efana nemithi yokulwa nokuvuvukala engeyona eye-steroidal (ama-NSAID).
• Imithi yamehlo kanye/noma ukuhlinzwa kwamehlo kwe-cataracts kanye ne-glaucoma .
• Ukwelashwa ngokomzimba kanye nokwelashwa ngokomsebenzi .

Liyini ikusasa lomuntu one-Blau Syndrome?

Nakuba kungekho ikhambi eliqondile le-Blau syndrome, ukwelashwa kungalawula izimpawu futhi kunikeze ingane yakho impilo enhle kuze kube yilapho isikhulile.Kungasiza. Indlela lesi simo esithinta ngayo wonke umuntu ihlukile. Ucwaningo olulodwa luthole ukuthi ama-40% ezingane ezine-Blau syndrome ayenezimpawu ezincane futhi ayekwazi ukusebenza njengabanye abantwana abangontanga yazo. Kodwa-ke, cishe ama-10% ezingane athola izimpawu ezinzima. Uma i-Blau syndrome ithinta izitho ezibalulekile emzimbeni, inganciphisa isikhathi sokuphila komuntu .

Ingabe i-Blau Syndrome ingavinjelwa?

Uma wena noma umlingani wakho ninokuguquka kwezakhi zofuzo okubangela i-Blau syndrome, kuwumqondo omuhle ukubona umeluleki wezakhi zofuzo ngaphambi kokuba nezingane. Lochwepheshe angakhuluma nawe ngengozi yokuthi inzalo yakho yesikhathi esizayo ithole ifa lezakhi zofuzo ze-NOD2 ezishintshiwe.

Kufanele ngimbone nini udokotela?

Bheka udokotela ngokushesha uma ingane yakho inanoma yikuphi kwalokhu okulandelayo:

• Uma unenkinga yokubamba izinto, ukugoba amalunga akho, noma ukunyakaza .
• Uma kukhona ubuhlungu obukhulu .
• Uma unezinkinga zokubona .

Yini okufanele ngiyibuze udokotela wami?

Ungabuza udokotela wakho imibuzo efana nale:

• Yini ebangela ukuthi ingane yami ibe ne-Blau Syndrome?
• Yimiphi imithi kanye nokwelashwa okungasiza ingane yami?
• Ingabe mina nomyeni/umkami kufanele sihlolwe izakhi zofuzo?
• Ingabe kufanele ngiqaphele izimpawu zezinkinga?

Uyini umehluko phakathi kwe-Blau Syndrome kanye ne-Early-Onset Sarcoidosis?

I-Blau syndrome kanye ne-sarcoidosis yokuqala ekuqaleni empeleni kuyisifo esifanayo , esinezimpawu ezifanayo. Kodwa-ke, izingane ezine-Blau syndrome zithola ifa lokushintsha kwezakhi zofuzo okubangela lesi sifo. Izingane ezine-sarcoidosis yokuqala ekuqaleni azinawo umlando womndeni we-Blau syndrome. Lokhu kusho ukuthi i-NOD2 gene iyashintsha noma iyashintsha ngezikhathi ezithile , ngaphandle kwesizathu esibonakalayo. Lokhu kubizwa ngokuthi i-de novo gene mutation.

Okokugcina, izinto okufanele uzikhumbule

Ukunakekela ingane enesifo esingamahlalakhona njenge-Blau Syndrome kungaba yinselele. Uma une-Blau Syndrome, ungase ukwazi ukusebenzisa ulwazi lwakho lomuntu siqu ukuze usekele kangcono ingane yakho. Ungasebenzisa futhi ulwazi lwakho ukusiza ingane yakho ukuthi iphile nalesi simo sokuphila kwayo konke. Into ebaluleke kakhulu ukufuna ukwelashwa kuchwepheshe ojwayelene nesifo samathambo, i-uveitis, kanye nezimo zesikhumba ezihambisana ne-Blau Syndrome. Bangasiza ingane yakho ukuthi ilawule izimpawu zayo futhi bayisize ibe nobuntwana obuhle kakhulu. Uma ubona noma yiziphi izimpawu, ungazinaki. Bona udokotela ngokushesha.I-Blau Syndrome, Izingane, Izifo Zesikhumba, I-Arthritis, I-Uveitis, Izifo Zofuzo, I-NOD2 Gene