Isifo sikaWilson yisifo sofuzo esitholakala ngofuzo esivimbela ukuqedwa kwethusi emzimbeni. Ukunqwabelana kwethusi esibindini nasebuchosheni kubangela izinkinga zesibindi noma zezinzwa. Ukusabalala kwesifo sikaWilson kuphansi kakhulu, cishe umuntu oyedwa kwabangama-1. (30) Kukhona ukwelashwa okusebenzayo kwalesi sifo, kodwa ukutholakala kwaso kusenesikhathi kuyinkinga ngoba sihlala sithule isikhathi eside.

Ukwakheka kwethusi kuqala ngesikhathi sokuzalwa, kodwa izimpawu zokuqala zesifo sikaWilson ngokuvamile aziveli kuze kube yilapho umuntu esemusha noma esekhulile. Zingahluka kakhulu ngoba izitho eziningana ziyathinteka ekuqongeleleni kwethusi: inhliziyo, izinso, amehlo, igazi… futhi kube nengqondo, izinso, i-hematological kanye ne-endocrinological. Isibindi nobuchopho kuthinteka kakhulu ngoba kakade ngokwemvelo ziqukethe ithusi eliningi. (40)

• Ukuphazamiseka kwesibindi: i-jaundice, i-cirrhosis, ukwehluleka kwesibindi ...
• Ukuphazamiseka kwemizwa: ukudangala, ukuphazamiseka kokuziphatha, ubunzima bokufunda, ubunzima ekuvezeni imizwa yabo, ukuthuthumela, amajaqamba nokuqina (dystonia) ...

Indandatho ye-Keyser-Fleisher ezungeza iris iwuphawu lokunqwabelana kwethusi esweni. Ngaphezu kwalezi zimpawu ezinzima, isifo sikaWilson singase sibe nezimpawu ezingathandeki, njengokukhathala okuvamile, ubuhlungu besisu, ukuhlanza nokulahlekelwa isisindo, i-anemia, nobuhlungu obuhlangene.

Ekuqaleni kwesifo sikaWilson, kukhona ukuguqulwa kofuzo lwe-ATP7B olutholakala ku-chromosome 13, olubandakanyeka kumetabolism yethusi. Ilawula ukukhiqizwa kwephrotheni ye-ATPase 2 edlala indima ekuthutheni ithusi lisuka esibindini liye kwezinye izingxenye zomzimba. I-Copper iyisakhiwo esidingekayo semisebenzi eminingi yamaseli, kodwa ngaphezu kwethusi iba yingozi futhi ilimaza izicubu nezitho.

Ukudluliswa kwesifo sikaWilson kuyi-autosomal recessive. Ngakho-ke kuyadingeka ukuthola amakhophi amabili esakhi sofuzo esiguquliwe (kusuka kubaba nomama) ukuze kuthuthukiswe lesi sifo. Lokhu kusho ukuthi abesilisa nabesifazane badalulwa ngokulinganayo nokuthi abazali ababili abaphethe isakhi sofuzo esiguquliwe kodwa bengaguli basengozini kwezine ekuzalweni ngakunye kokudlulisela lesi sifo.

Kukhona ukwelashwa okusebenzayo ukumisa ukuqhubeka kwesifo futhi kunciphise noma kuqede izimpawu zaso. Kudingeka futhi ukuthi iqalwe kusenesikhathi, kodwa ngokuvamile kuthatha izinyanga eziningi ngemva kokuqala kwezimpawu ukuxilonga lesi sifo esithule, esingaziwa futhi izimpawu zayo zikhomba kwezinye izimo eziningi (isifo sokusha kwesibindi esiwukulimala kwesibindi nokucindezeleka ngenxa yokubandakanyeka kwengqondo). .

Ukwelashwa "kwe-chelating" kwenza kube nokwenzeka ukuheha ithusi nokuyiqeda emchameni, ngaleyo ndlela kunciphise ukuqoqwa kwayo ezithweni. Isekelwe ku-D-penicillamine noma i-Trientine, imithi ethathwe ngomlomo. Ziyasebenza, kodwa zingabangela imiphumela emibi kakhulu (ukulimala kwezinso, ukungezwani komzimba, njll.). Uma le miphumela engemihle ibaluleke kakhulu, siphendukela ekuphathweni kwe-zinc okuzokhawulela ukumuncwa kwethusi ngamathumbu.

Ukufakelwa kwesibindi kungase kudingeke lapho isibindi silimele kakhulu, okuyicala labantu abangu-5% abanesifo sikaWilson (1).

Ukuhlolwa kofuzo kunikezwa izingane zakubo zomuntu othintekile. Kubangela ukwelashwa okuphumelelayo kokuvimbela uma kwenzeka kutholwa okungavamile kofuzo kufuzo lwe-ATP7B.