Ngaba umntwana wakho omncinci unazo ezi mpawu? Masithethe ngeBlau Syndrome.

Ngaba umntwana wakho omncinci uhlala eba namaqhuqhuva? Okanye uthi amalungu akhe ayaqaqamba? Ngaba amehlo akhe ngamanye amaxesha aba bomvu kwaye umbono wakhe ubonakala ungacacanga? Nangona enye okanye ezimbini zezi zinto zinokwenzeka, ngamanye amaxesha zonke zinokwenzeka kunye. Namhlanje siza kuthetha ngemeko yezonyango engaqhelekanga kodwa ebaluleke kakhulu ekufuneka uyiqaphele. Leyo yiBlau Syndrome .

Yintoni iBlau Syndrome?

Ngamafutshane, iBlau Syndrome sisifo esingaqhelekanga sokudumba esichaphazela ulusu lomntwana wakho, amalungu kunye namehlo . 'Ukudumba' kuthetha ukudumba kunye nokubomvu emzimbeni. Isizathu esiphambili sale meko kukuguquka kwemfuza umntwana azalwa enayo . Rhoqo, iimpawu ezinje ngokurhawuzelelwa lusu, iintlungu zamalungu, okanye isifo samathambo ziqala ngaphambi kokuba umntwana abe neminyaka emi-5 ubudala . Inokubangela imeko ebizwa ngokuba yi-uveitis, echaphazela umbono.

Lithetha ukuthini igama elithi "Blau Syndrome"?

Xa usiva eli gama, usenokuba uzibuza ukuba lithetha ukuthini eli gama. Makhe sijonge ukuba la magama mabini athetha ukuthini:

• UBlau: Eli ligama likagqirha ngokwenene. Ngo-1985, uGqr. Edward Blau, owayesakuba ngugqirha wabantwana eWisconsin, wapapasha iphepha lophando ngesi sifo. Wachaza intsapho eyayisihlupheke sesi sifo izizukulwana ezine.
• Isifo: Kwizonyango, isifo sisifo apho iimpawu ezininzi ezinxulumeneyo zidibana khona kwaye zichaphazela amalungu ahlukeneyo omzimba. Oko kukuthi, indibaniselwano yeempawu kunokuba sisifo esinye.

Zithini iimpawu zeBlau Syndrome?

Iimpawu ze-Blau syndrome zihlala ziqala ebuntwaneni . Ezi mpawu zihlala zibonakala xa umntwana eneminyaka emi-5 ubudala. Zichaphazela kakhulu ulusu, amalungu kunye namehlo omntwana wakho.

Iimpawu zolusu

Uphawu lokuqala lwe-Blau syndrome yimeko yesikhumba ebizwa ngokuba yi-granulomatous dermatitis. Olu lurhashalala oluvela eluswini. Ludla ngokuvela ezingalweni, emilenzeni, okanye kwezinye iindawo zomzimba, njengesifuba nesisu, kunyaka wokuqala wobomi bomntwana . Olu hlobo lwe-dermatitis lunokubangela iimpawu ezifana nezi:

• Amaqhuma okanye amaqhuma aqinileyo onokuwava phantsi kolusu lomntwana wakho . La maqhuma abizwa ngokuba zii-granulomas.
• Ulusu luba njengekorale .
• Amadyungudyungu abomvu, amthubi, okanye amdaka kumaleko ophezulu wolusu lomntwana, i-epidermis.Kuvela amaqhuma.

Iimpawu kumalungu

I-Blau syndrome inokubangela ukudumba kolwelo lwamalungu omntwana wakho, olubizwa ngokuba yi-synovium. Umntwana wakho usenokuba nesifo samathambo kwiindawo ezifana nezandla, izihlathi, iinyawo, namaqatha phakathi kweminyaka emi-2 ne-4 ubudala. Iimpawu zesifo samathambo ziquka:

• Intlungu yamalungu .
• Intlungu yemisipha , ingakumbi kwimisipha.
• Ukudumba okanye ukuqina kwamalungu .

Khawuthelekelele ukuba umntwana wakho omncinci uyakhala xa evuka kusasa, engakwazi ukushukumisa amalungu akhe, okanye ukuba uhlala ekhalaza ukuba amalungu akhe abuhlungu xa esiya kudlala, kufuneka ukhathazeke ngaloo nto.

Iimpawu zamehlo

Malunga nama-80% abantwana abafunyaniswe bene-Blau syndrome baba nesifo samehlo esibizwa ngokuba yi-uveitis. I-Uveitis kukudumba komaleko ophakathi weliso, obizwa ngokuba yi-uvea. Ingachaphazela i-retinas kunye nemithambo-luvo yomntwana. Umntwana unokuba ne-uveitis emehlweni omabini , kwaye inokubangela nokulahlekelwa yimbono . Iimpawu ze-uveitis ziquka:

• Ukubona okuphantsi.
• Ubona amachaphaza amancinci amnyama (ii-eye floaters ) ehambahamba phambi kwamehlo akho.
• Uva iintlungu okanye uxinzelelo emehlweni akho .
• Ububomvu bamehlo .
• Ukuvaleka kwefoto , oko kuthetha ukuba kuba nzima ukubona ukukhanya.
• Ukudumba kwamehlo .

I-Blau Syndrome ichaphazela njani amanye amalungu omzimba?

Nangona oku kungaqhelekanga, umntwana wakho one-Blau syndrome unokufumana izifo ezinokubangela ukudumba ezisongela ubomi kwezi zitho:

• Ivazi yegazi
• Ingqondo
• Intliziyo
• Isibindi
• Ama-lymph nodes (inkqubo ye-lymphatic)
• Ispleen

Ziziphi iingxaki ezinokubakho zeBlau Syndrome?

Imeko yokudumba ebangelwa yi-Blau syndrome inokukhokelela kwiingxaki ezifana nezi:

• Iingxaki ze-cataracts, i-glaucoma, i-cystoid macular edema, i-retinal detachment, kunye nokulahlekelwa ngokupheleleyo kombono.
• Ubunzima bokushukuma kunye nokujika okungapheliyo kwelungu elichaphazelekayo.
• Isifo sezintso kunye nokungasebenzi kakuhle kwezintso .
• Ukudumba kwentliziyo.
• Udaka olukhulu.
• I-Neuropathy - iingxaki zemithambo-luvo.
• Uxinzelelo lwegazi oluphezulu emaphaphu - uxinzelelo lwegazi oluphezulu emaphaphu.
• I-Vasculitis - ukudumba kwemithambo yegazi.

Yintoni ebangela iBlau Syndrome?

Eyona nto ibangela i-Blau syndrome kukuguquka kwe-NOD2 gene . Kubantu abaninzi abasempilweni, le gene ye-NOD2 ivelisa iproteni ebizwa ngokuba yi-NOD2. Le protein inceda inkqubo yethu yomzimba yokulwa neentsholongwane kunye nosulelo. Nangona kunjalo, ukuba umntwana wakho une-Blau syndrome, le protein ye-NOD2 iba namandla kakhulu . Oku kutshintsha indlela esebenza ngayo inkqubo yomzimba yomzimba, okubangela ukudumba okukhulu okuchaphazela amehlo, ulusu kunye namalungu omntwana.

Ngubani osengozini yokufumana iBlau Syndrome?

Ukuba omnye umzali une-Blau syndrome (okanye uguquko lwezakhi zofuzo oluyibangelayo), umntwana unethuba elingama-50% lokufumana i-gene eguquliweyo aze afumane i-syndrome . Umntwana kufuneka afumane enye yezakhi zofuzo eziguquliweyo ukuze afumane isifo. Oku kuthetha ukuba yimeko yezakhi zofuzo ekwiqela elibizwa ngokuba yi-autosomal dominant disorders. Ngamanye amaxesha, umntwana unokuyifumana le gene mutation aze angafumani i-Blau syndrome. Nangona kunjalo, umntwana unethuba elingama-50% lokudlulisela i-gene eguquliweyo kubantwana bakhe kwixesha elizayo.

Ngabaluphi uhlobo loogqirha abaxilonga baze banyange iBlau Syndrome?

Ngokuxhomekeke kwiimpawu zomntwana wakho, unokufuna unyango kwiqela leengcali, kuquka:

• Ingcali yezifo zamalungu (ugqirha ogxile kwizifo zamalungu) kwiingxaki zamathambo kunye neengxaki ezinxulumene namalungu .
• Ingcali yesikhumba (ingcali yolusu) yezifo zolusu .
• Ingcali yamehlo (ingcali yamehlo) yeengxaki zokubona .

Oogqirha bayifumanisa njani iBlau Syndrome?

Uvavanyo lokufumanisa i-Blau syndrome luyahluka ngokuxhomekeke kwiimpawu zomntwana wakho. Uvavanyo lwemfuza (uvavanyo lwegazi) lunokwenziwa ukuze kuchongwe utshintsho lwemfuza lwe-NOD2 olubangela i-Blau syndrome. Umntwana wakho usenokuba novavanyo olunye okanye ngaphezulu kwezi zilandelayo:

• Uvavanyo lwamehloOku kungabandakanya iimvavanyo ezifana ne-optical coherence tomography (OCT) kunye novavanyo lwe-visual field.
• Uvavanyo lwemifanekiso : I-MRI scan, i-CT scan, i-ultrasound, okanye i-X-ray ukujonga amalungu kunye namanye amalungu kuxhomekeke kwiimpawu.
• I-biopsy yolusu : Ukuthatha iqhekeza elincinci lolusu ukuze lihlolwe.

Ngaba uvavanyo lwangaphambi kokukhulelwa luyakwazi ukubona iBlau Syndrome?

Uvavanyo lwangaphambi kokuzalwa olufana ne-chorionic villus sampling okanye i-amniocentesis aluvavanyi ngokukodwa utshintsho lwe-NOD2 gene.

Ngawaphi amanye amagama eBlau Syndrome?

Ugqirha womntwana wakho unokubiza iBlau syndrome ngenye yala magama:

• I-arthritis ye-granulomatous yabantwana
• I-arthrocutaneous uveal granulomatosis
• I-granulomatosis yosapho
• I-granulomatosis yolutsha olukhula kwinkqubo yentsapho
• I-Granulomatous inflammatory arthritis, i-dermatitis kunye ne-uveitis

Inqabile kangakanani iBlau Syndrome?

I-Blau syndrome sisifo esingaqhelekanga kakhulu . Ehlabathini lonke, sichaphazela abantwana abangaphantsi komnye kwisigidi .

Oogqirha bayinyanga njani iBlau Syndrome?

Iqela lezonyango lomntwana wakho liza kuzama ukunyanga iimeko ezahlukeneyo ukunciphisa iimpawu nokuthintela ukuqhambuka kwesifo. Iindlela zonyango ziyahluka ngokuxhomekeke kwimeko kunye nobunzima bayo. Zingabandakanya:

• Izinto ezithintela amasosha omzimba : Iziyobisi ezifana ne-corticosteroids, i-methotrexate, kunye ne-tumor necrosis factor (TNF) inhibitors.
• Amayeza okulwa nokuvuvukala : Amayeza afana namayeza angengowe-steroidal anti-inflammatory (NSAIDs).
• Amayeza amehlo kunye/okanye utyando lwamehlo lwe-cataracts kunye ne-glaucoma .
• Unyango lomzimba kunye nonyango lomsebenzi .

Liyintoni ikamva lomntu one-Blau Syndrome?

Nangona kungekho ndlela ithile yonyango lwe-Blau syndrome, unyango lunokulawula iimpawu kwaye lunike umntwana wakho ubomi obusemgangathweni ade abe ngumntu omdala.Inokunceda. Indlela le meko echaphazela ngayo wonke umntu yahlukile. Olunye uphando lufumanise ukuba ama-40% abantwana abane-Blau syndrome babeneempawu ezincinci kwaye babekwazi ukusebenza njengabanye abantwana abaneminyaka yabo. Nangona kunjalo, malunga ne-10% yabantwana babonakalisa iimpawu ezinzima. Ukuba i-Blau syndrome ichaphazela amalungu aphambili emzimbeni, inokunciphisa ixesha lokuphila komntu .

Ngaba iBlau Syndrome ingathintelwa?

Ukuba wena okanye iqabane lakho ninotshintsho lwezakhi zofuzo olubangela i-Blau syndrome, licebo elihle ukubonana nomcebisi wezezakhi zofuzo ngaphambi kokuba nibe nabantwana. Le ngcali ingathetha nawe ngomngcipheko wokuba inzala yakho yexesha elizayo ifumane ilifa le-NOD2 gene etshintshiweyo.

Ndifanele ndimbone nini ugqirha?

Bona ugqirha ngokukhawuleza ukuba umntwana wakho unenye yezi zinto zilandelayo:

• Ukuba unengxaki yokubamba izinto, ukugoba amalungu akho, okanye ukushukuma .
• Ukuba kukho intlungu enzima .
• Ukuba unengxaki yokubona .

Ndimele ndibuze ntoni kugqirha wam?

Ungabuza ugqirha wakho imibuzo efana nale:

• Yintoni ebangela ukuba umntwana wam abe neBlau Syndrome?
• Ngawaphi amayeza kunye nonyango olunokunceda umntwana wam?
• Ngaba mna nomyeni/umfazi wam kufuneka siye kuvavanyo lwemfuza?
• Ngaba kufuneka ndiqaphele iimpawu zeengxaki?

Yintoni umahluko phakathi kweBlau Syndrome kunye neEarly-Onset Sarcoidosis?

I-Blau syndrome kunye ne-sarcoidosis yasekuqaleni zizifo ezifanayo , ezineempawu ezifanayo. Nangona kunjalo, abantwana abane-Blau syndrome bazuza utshintsho lwezakhi zofuzo olubangela esi sifo. Abantwana abane-sarcoidosis yasekuqaleni abanayo imbali yosapho ye-Blau syndrome. Oku kuthetha ukuba i-NOD2 gene iyatshintsha okanye itshintsha rhoqo , ngaphandle kwesizathu esicacileyo. Oku kubizwa ngokuba yi-de novo gene mutation.

Okokugqibela, izinto ekufuneka uzikhumbule

Ukunyamekela umntwana onesifo esinganyangekiyo njenge-Blau Syndrome kunokuba nzima. Ukuba une-Blau Syndrome, unokukwazi ukusebenzisa amava akho ukuze uxhase umntwana wakho ngcono. Ungasebenzisa namava akho ukunceda umntwana wakho aphile nale meko ubomi bakhe bonke. Eyona nto ibalulekileyo kukufuna unyango kwingcali eqhelene ne-arthritis, i-uveitis, kunye neemeko zolusu ezinxulumene ne-Blau Syndrome. Banokunceda umntwana wakho ukuba alawule iimpawu zakhe kwaye bamncede abe nobuntwana obuhle kakhulu. Ukuba ubona naziphi na iimpawu, ungazihoyi. Bona ugqirha ngoko nangoko.Isifo sikaBlau, iiPediatrics, Izifo zolusu, iArthritis, i-Uveitis, Izifo zofuzo, i-NOD2 Gene