Isifo urbach-Vite sika: izimpawu, ukwelashwa, onalesi sifo

Izifo urbach-Vite - i sifo esingavamile esidluliselwa kakhulu kwezakhi zofuzo, luthunyelwe i autosomal ngendlela esikhubazayo. Imbangela zesifo - kuguquka ku-chromosome kuqala ECM1 zofuzo. Esikhathini izincwadi zezokwelapha ezisekelwe ekwazisweni kukhona elinye igama lalesi sifo - proteinosis lipoid.

Umlando yokutholakala

Icala lokuqala isifo, ogama izimpawu ezihambisana nesifo urbach-Vite, yabhaliswa ngo-1908. It wachaza lo profesa Swiss kanye Udokotela wezindlebe Friedrich Siebenmann. Ngo-1925 udokotela Swiss kanye histologist Iogann Misher echazwe izimo ezintathu ezifanayo.

Nokho, ngokusemthethweni kuba esikhubazayo sifo esingavamile esidluliselwa ngofuzo abikwe kuphela ngo-1929 ngu-wesikhumba futhi urbach otolagingologom Vita. It Erich urbach ngokuthi zokugula proteinosis lipoid, ngoba ekholelwa ukuthi sihlobene ukungalingani lipid namaprotheni ezifakwa kwezicubu zomzimba.

Kusukela wokuvula ibhalisiwe ngokusho emithonjeni ehlukene kusuka amathathu namashumi ukuba anamakhulu mane amacala lesi sifo emhlabeni wonke.

izimpawu

Phakathi izimpawu ezivamile zesifo - ukuqubuka emhlabeni nezinkophe njengoba papules (bona ayatholakala kwi Luba nentamo), isiguli iba izwi hoshozela, kukhona ukuncipha komthamo okuzivuselela kwesikhumba, mucosa ukuqina futhi induration ijwabu ubuchopho esifundeni yesikhashana. Uphawu zokugcina iyona ayingozi kakhulu ngoba kungaholela yesikhashana Lobe isithuthwane.

Lesi sifo wokuqala kuzibonakalisa detstkom yobudala (iminyaka 3-7). Yingaleso sikhathi lapho kukhona ukuqubuka esikhumbeni, futhi hoarseness.

Kumele kuqashelwe ukuthi lezi zimpawu yilezi izinto ezididayo nezingathembekile kungase kuhluke isiguli nesineke. Njengoba isifo autosomal urbach-Vite idluliselwa esikhubazayo, awusebenzi ukuzibonakalisa uma genotype we allele evamile evelele. Ngokuvamile abantu musa ngisho realize ukuthi they are abathwali isakhi sofuzo asabekayo. Abanye abezindaba iyisifo ezingavamile asinazo izimpawu. Futhi kuphela uma bobabili abazali isakhi sofuzo esiyimbangela yalesi proteinosis lipoid, lesi sifo ukuzibonakalisa inzalo.

ukuhlola

isifo urbach-Vite sika kunzima lapho ethola ukuthi unesifo ngoba izimpawu akusiyo jikelele. Endabeni ukuqubuka (papules) on the amajwabu amehlo, ukuqubuka papular esikhumbeni isiphundu sabo ebunzini, uphethwe ihlanganisa ukuhambela wesikhumba.

Ukuze isifo kusolwa urbach-Vite babelwe MRI ngaphandle Ngokuphambene elikwazi ukuzwa Ukubuthelela calcium emzimbeni. Nokho, lokhu uphawu akubalwa abonisa proteinosis lipoid. Calcification futhi isici herpes simplex encephalitis futhi.

A indima ebalulekile sitholakele zofuzo kudlala ucwaningo. Lokho-ke kwenza kube nokwenzeka ukunquma ngokuqinisekile ukuthi kukhona ECM1 isakhi sofuzo kuguquka, futhi uma kunjalo, ukuthi lokhu kuguquka benza asihole isifo urbach-Vite.

ukwelashwa

Naphezu kweqiniso lokuthi proteinosis lipoid uvulekele isikhathi eside, iyisifo ezingavamile, njengoba kwezinso kakhulu zofuzo ngeke welaphe. Nokho, ngentuthuko yakamuva emkhakheni we-biochemistry uvumele badambise eziningi zalesi sifo.

Ngakho, umkhuba omuhle laligujwa lapho ithola "heparin" futhi "dimethyl sulfoxide", nakuba ayengazi kuzo zonke izimo. ekuphathweni Oral amazinga okukhishwa encane "dimethylsulfoxide" (Dimexidum) ngenxa izakhiwo eqeda ukuvuvukala zomuthi, kunciphisa dermotropic isifo ukubonakaliswa.

Ukusetshenziswa "D-penicillamine" futhi kwaba yimpumelelo, kodwa hhayi esetshenziswa kabanzi. Ebhalisiwe izimo iziguli "Tigasonom", okuyinto ngokuvamile ezinqunyiwe psoriasis.

Njengoba i-calcium sebethule ezicutshini ubuchopho kungaholela isizukulwane lokweqisa pulses kagesi nokuhlasela nabanesithuthwane, anticonvulsants iziguli enqunyiwe ( "Metindion" "ethosuximide").

ukuba nombono ongafani ngeke

Urbach-Vite isifo nge ukwelashwa okufanelekile, njengoba umthetho, akuyona yingozi. Abantu abaphethwe yilesi sifo angaphila ukuphila isikhathi eside futhi egcwele. Kodwa akufanele sidebeselele udokotela njalo ukuvakashelwa. Ngenxa ukuqina ulwelwesi lwamafinyila kwezinye izimo ekuthuthukiseni umgudu isimiso. Iziguli ezinjalo ukubuyisela patency we umgudu liyadingeka tracheotomy noma usebenzisa laser-carbon dioxide.

Ezimweni lapho calcium ezifakwa kuholele zesifo sokuwa, kubalulekile ukubona onguchwepheshe-epileptolog okuyinto ukukhethela ukwelashwa okufanele, kuya ngobubi izimpawu.