Isifo Wilson esithi: oonobangela, iimpawu, unyango kunye uxilongo

isifo Wilson kaThixo (ukuphela hepatolenticular, Wilson syndrome - konovalov) - kukho ukuphazamiseka enqabileyo yemfuza apho lu dityanisiwe kakuhle ukutya ngobhedu emzimbeni kwaye lukhatshwa isibindi kunye nenkqubo luvo.

Kuba okokuqala ezi mpawu zarekhodwa ngo-1883. Mbonakaliso sifo ezifanayo iimpawu sclerosis ezininzi, ngoko ngexesha esi sifo kuye ngokuba "psevdosklerozom". Ubunzulu ukufunda le ngxaki ozibandakanye luvo IsiNgesi uSamuweli Wilson, owathi ngo-1912 yachaza ekliniki phantse ngokupheleleyo sifo.

isifo Wilson esithi: Oonobangela

Njengoko kukhankanyiwe, esi sifo yemfuza kwaye udlule umzali emntwaneni ngendlela autosomal sofuzo. Ukophulwa nethe ubhedu ngenxa kuguquka ngayo isakhi ibekwe kwingalo elide chromosome weshumi elinesithathu. Yiyo le gene buqonda iproteni uhlobo ethile ATPase, nenoxanduva ukuthutha sobhedu yamiswa ibe ceruloplasmin.

Izizathu ezo kwiDNA Kungenjalo ziqondwa ngokupheleleyo. Sinokuthi kuphela ukuba isifo Wilson kaThixo banesifo rhoqo phakathi kweentlanga apho imitshato eqhelekileyo phakathi nezizalwane. Ukongeza, le sifo kudla ngakumbi ngoxilongo phakathi amadoda namakhwenkwe, ogama yobudala nemiqulu engama-15 ukuya kwengama-25.

isifo Wilson esithi: le iimpawu eziphambili

Isifo ubonakala ngeendlela ezahlukeneyo. Ngenxa ngobhedu pathways oluhlala emzimbeni womntu, ngaloo ndlela zichaphazela isibindi kunye eziba lenticular diencephalon.

Xa izigulane, isifo ngazo ngokwayo isibindi okanye iimpawu luvo. Maxa wambi kukho kwakhona intlungu kwamalunga, icesina kunye nobuhlungu zomzimba. Ukuqhubeka sobhedu ngokuhamba kwexesha xa sithe asanyangwa kunokukhokelela kwesibindi. Kwezinye iimeko, owokuqala wabonakalisa iimpawu luvo - utshintsho yokuziphatha kunye zikarhulumente nangokweemvakalelo, kwakunye Barr. Ngelishwa, kaninzi iimpawu zesi sifo babonwa ekubonakalisweni babefikisa.

copper alunyangwanga oluhlala emzimbeni ezikhokelela neengxaki ezininzi, kuqukwa nesifo seswekile, aneurysms, yegazi, kunye yamathambo.

isifo Wilson esithi - Konovalova: Diagnosis

Uxilongo kwesi sifo kufuneka nakanjani zibandakanya chemistry igazi. Ngexesha ukuvavanywa kwilebhu isampulu yegazi sikhangele ngokukhethekileyo kwinqanaba sobhedu: igazi ke ponizhet njengoko zonke iimolekyuli enyibilikayo yande emzimbeni. Ngamanye amaxesha kuyimfuneko kunye zesibindi biopsy. Xa iisampuli phando kwesibindi inyama ukuqinisekisa isixa awongezelelekileyo zezobhedu.

Kukho enye ingongoma ebalulekileyo diagnostic. Xa usibona emehlweni izigulane kwi inwebu angabona amakhonkco sinombala - oko luphawu lo kuthiwa-Kaiser - Fleischer.

isifo Wilson esithi - Konovalova: unyango

Ukuza kuthi ga ngoku, unyango olusebenzayo kuphela kuprenil, ngokusekelwe wenziwe zonke iziyobisi ezikhoyo. Le into kunciphisa amanqanaba yobhedu emzimbeni alithathe ngaphezu. Lahla esi sifo akanakuba ngonaphakade. Kodwa lo unyango ivumela izigulane ukuba baphile obuqhelekileyo ubomi, asebenzayo.

Ngelishwa, ukuba isifo Wilson sele kubonakele kakhulu emva kwexesha, lo umonakalo emzimbeni, ingakumbi inyama luvo sele vuhlayiseki. Eli xesha ke ngoko kubalulekile ukuba ukufumanisa isifo kwaye uqale unyango.