Izifo eziphuhliswa ngenxa yezinto eziyimfuza zithathwa njengengqabile, kodwa ukuba umntu uhlala ixesha elide, ngokuqhelekileyo zivela kwindlela yokwelapha.
I-pathologies yama-Congenital yinto ebunzima kakhulu kunyango, kuba eqinisweni phambi koogqirha kuba ngumsebenzi wokukhohlisa imvelo nokulungisa iimpazamo zayo.
Isifo sikaWilson-Konovalov sachazwa ngowe-1912 ngu-English weurologist uSamuel Wilson, owafumanisa inani leempawu ze-hepato-cerebral dystonia, i-cirrhosis yesibindi waza wadibanisa phantsi kwegama elithi "ukuqhuma kwe-lenticular".
Ingundoqo yesi sifo sisekwimeko yokuba umzimba uqokelela ubuninzi beethusi, oko kukuthi, kwizitho zawo ezibaluleke kakhulu - ingqondo kunye nesibindi.
Ngomlinganiselo oqhelekileyo, ubhedu kubandakanyeka ekubunjweni kwemibilini yegazi, amathambo, umveliso we-collagen kunye ne-pigment ye-melanin. Kodwa xa inkqubo yokuhoxiswa kobhedu iphulwa (kwaye oku kuyintloko yeso sifo), inokubeka ubomi engozini. Ngokuqhelekileyo, ubhedu buncatshiswa ngokutya kwaye buxhaswa yi-bile, ekubunjweni kwesibindi kubandakanyeka. Ukuba eso sifo singaphathwa, ngoko-ke i-prediction ayiyibi.
Ubunokwenzeka bokuphuhliswa kwesifo sikaWilson-Konovalov
Ku-100 000 abantu bonke, oogqirha bafumana le ntsholongwane kuphela ezintathu. Isasazwa ngokuzenzekelayo ngokuzenzekelayo, oku kuthetha ukuba amathuba okuphuhliswa kwawo kulabo bantu abazali babo bobabini babenomdlavuza we-ATP7B oguquka kwiqela le-chromosome ye-13. I-Genetics iqikelele ukuba lo mfuzo u-0.6% wabantu behlabathi. Kwiqela elikhethekileyo labantwana abasengozini abazalwa ngokulamano olusondeleyo.
Izibonakaliso zesifo sikaWilson-Konovalov
Esi sifo sinokubonakalisa ebuntwaneni okanye ebusheni ngendlela yeengxaki ze-neuropsychiatric kunye nokungaphumeleli kwesibindi.
Oogqirha bahlula iintlobo ezintathu zesifo:
- ingxaki ichaphazela kuphela isibindi;
- ukuphazamiseka kukuchaphazela kuphela umsebenzi we-system central nervous system;
- ngendlela edibeneyo, kukho ukubonakaliswa kwezi zombini iifom.
Kwakhona kwisifo kukho izigaba ezi-2, oku kuhlobo lwexesha lokuxubusha kwesifo sikaWilson-Konovalov:
- i-latent - 5-7 iminyaka;
- isigaba semiboniso yekliniki.
Kukho ezimbini iintlobo zesifo:
- i-25% ngokukhawuleza kukho i-jaundice, iqondo lokushisa liphakama, ukuhluleka kwesibindi;
- esingapheliyo-ukubonakaliswa okukhawulezayo kwesi sifo, esenzeka kwiminyaka eyi-8-16.
Xa iziphazamiso zengqondo zenzeka, ezi zilandelayo zibonakaliswa:
- ukuphuma kwegazi;
- ukhathala nobuthathaka;
- kunciphise amandla okutya kunye nokusebenza;
- ukungazinzi kwesitofu kunye nokuqhawula;
- ubuhlungu obubandezela esibindi;
- ukubetha;
- ukwanda kweqondo lomzimba;
- i-jaundice ;
- edema;
- ukuphuma kwiisu nasemathumbu.
Kwimeko yokwephulwa kwenkqubo ye-nervous central, ezi zilandelayo zibonakaliswa:
- ukubonakaliswa kweempawu ezineminyaka engama-20;
- "Ubuso bukaMasky";
- salivation;
- ingxaki yokuthetha kunye nokulungelelaniswa kweminyango;
- ukuthuthumela;
- athetosis;
- ubugwenxa - iimeko ezinobungozi kunye neengxaki.
Phakathi kweempawu ezikhethekileyo zesifo-ukubunjwa kwendandatho ebomvu ngasemngceleni welihlo.
Iingxaki zesifo sikaWilson-Konovalov
Imiphumo yesifo sikaWilson-Konovalov ngokungabikho unyango lukhulu. Kukho ukuphulwa kwamalungu amaninzi kunye neenkqubo:
- isikhumba - ukwandisa i-pigmentation, izimbobo eziluhlaza ezikhonkwane;
- iintshontsho zamatye ezintso , ukuvuvukala kwemilenze;
- ukuphazamiseka kwentliziyo;
- amajoyina - athathwe kwi-20-50% yamatyala;
- amathambo - ukunyuka kwamathambo, kwenyuka kwamaqhekeza;
- inkqubo ye-endocrine - ukulibaziseka ekuphuculweni ngokwesondo, amadoda angenako ukwanda kweengcambu zentloko, abafazi banenkinga ngokuthwala umntwana.
Ukuxilongwa kwesifo sikaWilson-Konovalov
Ezi ndlela zilandelayo zisetyenziselwa ukuxilonga:
- ukuhlola ngesibane sombane;
- ukuzimisela kwinqanaba le-ceruloplasmin;
- ukuzimisela ubhedu kwi-urine yemihla ngemihla kunye ne-serum.
Ukunyangwa kwesifo sikaWilson-Konovalov
Utyando lubandakanya zombini amayeza kunye namanyathelo okutya:
- ukutya kunye ne-Wilson-Konovalov isifo-i-tafile inombolo yesi-5 kunye nokunciphisa ubhedu ukuya kwi-1 mg ngosuku;
- iziyobisi iKaprenil;
- Uniatio;
- i vithamini B6.