Izifo ezithuthuka ngenxa yesifo somzimba zibhekwa njengezingavamile, kodwa uma umuntu ephila isikhathi eside, kuvame ukuvela emisebenzini yezokwelapha.
I-pathologies yama-congenital ingenye yezinkinga ezinzima kakhulu ekwelapheni, ngoba empeleni ngaphambi kokuba odokotela kube umsebenzi wokukhohlisa isimo nokulungisa amaphutha ayo.
Isifo sikaWilson-Konovalov sachazwa ngo-1912 yi-English neurologist uSyria Wilson, owathola izimpawu ze-hepato-cerebral dystonia, i-cirrhosis yesibindi futhi wazihlanganisa ngaphansi kwegama elithi "ukuguqulwa kwe-lenticular okuqhubekayo."
Okubalulekile kwalesi sifo kuwukuthi umzimba uqoqa isamba esiningi ngokweqile, okungukuthi, ezithombeni ezibalulekile kakhulu - ubuchopho nesibindi.
Ngomthamo ovamile, ithusi lihileleke ekwakheni izintambo zamashukela, amathambo, ukukhiqizwa kwe-collagen kanye ne-pigment of melanin. Kodwa uma inqubo yokuhoxisa ithusi iphulwa (futhi lokhu kuyimbangela yenkinga yesifo), ingabungozi impilo. Ngokuvamile, ithusi igajwe ngokudla futhi idonswa yi-bile, ekwakheni isibindi esihilelekile. Uma lesi sifo singelashwa, khona-ke lesi sibikezelo singenakulungiswa.
Amathuba okuthuthukiswa kwesifo sikaWilson-Konovalov
Kuyizinkulungwane eziyikhulu zabantu abantu, odokotela bathola lokhu ukukhubazeka kwezintathu kuphela. Isatshalaliswa ngokuzenzakalelayo ngokweqile, okusho ukuthi amathuba okuthuthukiswa kwawo kulabo bantu bobabili abazali babo banegciwane lesandulela ngculaza le-ATP7B ku-pair of chromosome pair. I-Genetics ilinganisela ukuthi lesi sakhi sezingaba ngu-0.6% labantu bomhlaba. Eqenjini elikhethekile labantwana abasengozini abazalelwa ebuhlotsheni obuseduze.
Izimpawu zesifo sikaWilson-Konovalov
Lesi sifo singazibonakalisa ebuntwaneni noma ekukhuleni ngesimo sezinkinga ze-neuropsychiatric nokuhluleka kwesibindi.
Odokotela bahlukanisa izinhlobo ezintathu zesifo:
- lesi sifo sithinta kuphela isibindi;
- ukuphazanyiswa kuthinta kuphela umsebenzi wesistimu yezinzwa eziphakathi;
- ngefomu elixubene, kukhona ukubonakaliswa kwamafomu womabili.
Futhi kulesi sifo kunezinyathelo ezimbili, lokhu kuyindlela yokuxubha kwesifo sikaWilson-Konovalov:
- okudlulile - iminyaka engu-5-7;
- isigaba sokubonakaliswa kwemitholampilo.
Kunezinhlobo ezimbili zezifo:
- i-acute - ngo-25% ngokuzumayo kune-jaundice, izinga lokushisa likhuphuka, ukwehluleka kwesibindi;
- okungapheli - ukubonakalisa kancane kwesifo, okwenzeka eminyakeni engu-8-16.
Lapho izifo ezibuhlungu zenzeka, lezi zimpawu zilandelayo:
- ukuphuma kwegazi;
- ukukhathala nokubuthakathaka;
- ukunciphisa amandla okudla nokusebenza;
- isitatimende sezinyawo kanye nokuqhuma;
- ubuhlungu obunzima esibindi;
- itching;
- ukushisa komzimba okwandisiwe;
- i-jaundice ;
- i-edema;
- ukuphapha esiswini nasemathunjini.
Endabeni yokwephulwa kwesistimu yezinzwa eziphakathi, izimpawu ezilandelayo zenzeka:
- ukubonakaliswa kwezimpawu ezineminyaka engu-20;
- "Ubuso bukaMasky";
- salivation;
- ukuphazamiseka kwenkulumo nokuhlanganiswa kwezinyathelo;
- ukuthuthumela;
- i-athetosis;
- ukuhlukumezeka - izimo ezinobungozi nezesabekayo.
Phakathi kwezibonakaliso ezikhethekile zesifo - ukwakheka kwendandatho ensundu eduze komkhawulo we-iso.
Izinkinga zesifo sikaWilson-Konovalov
Imiphumela yesifo sikaWilson-Konovalov ngokungabikho kokwelashwa mkhulu. Kukhona ukwephula ezinhlanganweni eziningi nezinhlelo:
- isikhumba - ukwandisa ukuhlobisa, izimbobo ezihlaza okwesibhakabhaka ezipikili;
- amatshe ezinso ezinsoweni , ukuvuvukala kwemilenze;
- ukuphazamiseka kwenhliziyo;
- amalunga - ashintshwe ngamacala angu-20-50%;
- amathambo - ukukhukhuka kwabo kwanda, ukuqhuma kuyavame;
- uhlelo lwe-endocrine - ukubambezeleka ekuthuthukiseni ngokocansi, amadoda angase abe nokwanda kwezigulane ezincelisayo, abesifazane banenkinga yokuthwala ingane.
Ukuxilongwa kwesifo sikaWilson-Konovalov
Izindlela ezilandelayo zisetshenziselwa ukuxilongwa:
- ukuhlolwa ngesibani sokubamba;
- ukuzimisela kwezinga le-ceruloplasmin;
- ukuzimisela ithusi emcanjini nsuku zonke kanye serum.
Ukwelashwa kwesifo sikaWilson-Konovalov
Ukwelashwa kuhilela kokubili imithi kanye nezinyathelo zokudla:
- ukudla nge-Wilson-Konovalov isifo - inombolo yetafula le-5 kanye nokwehlisa ithusi kuya ku-1 mg ngosuku;
- izidakamizwa Kuprenil;
- Uniatio;
- i-vitamin B6.