Cutar Wilson cuta ce ta gado wacce ke hana cire jan karfe daga jiki. Tushen jan ƙarfe a cikin hanta da ƙwaƙwalwa yana haifar da hanta ko matsalolin jijiya. Yaduwar cutar Wilson yayi ƙasa sosai, kusan 1 cikin 30 mutane. (000) Akwai maganin wannan cuta mai inganci, amma farkon gano cutar yana da matsala domin ta daɗe tana yin shiru.

Copper yana farawa ne tun lokacin haihuwa, amma alamun farko na cutar Wilson sau da yawa ba sa bayyana har sai sun girma ko girma. Za su iya zama daban-daban saboda da yawa gabobin suna shafar tara tagulla: zuciya, kodan, idanu, jini ... Na farko ãyõyin hanta ne ko neurological a cikin uku bisa hudu na lokuta (40% da kuma 35% bi da bi) , amma za su iya. Har ila yau, zama masu tabin hankali, renal, hematological da endocrinological. Hanta da kwakwalwa sun shafi musamman saboda sun riga sun ƙunshi mafi yawan jan ƙarfe. (2)

• Ciwon hanta: jaundice, cirrhosis, gazawar hanta ...
• Cututtukan jijiyoyi: baƙin ciki, rikicewar ɗabi'a, wahalar ilmantarwa, wahalar bayyana kansu, rawar jiki, maƙarƙashiya da kwangila (dystonia)…

Zoben Keyser-Fleisher wanda ke kewaye da iris shine halayyar gina tagulla a cikin ido. Bugu da ƙari ga waɗannan cututtuka masu tsanani, cutar Wilson na iya nuna alamun da ba su da kyau, irin su gajiya gaba ɗaya, ciwon ciki, amai da asarar nauyi, anemia, da ciwon haɗin gwiwa.

A asalin cutar Wilson, akwai maye gurbi a cikin kwayar halittar ATP7B da ke kan chromosome 13, wanda ke da hannu a cikin metabolism na jan karfe. Yana sarrafa samar da furotin ATPase 2 wanda ke taka rawa wajen jigilar jan karfe daga hanta zuwa wasu sassan jiki. Copper shine tubalin ginin da ya wajaba don yawancin ayyukan tantanin halitta, amma fiye da jan ƙarfe yana zama mai guba kuma yana lalata kyallen takarda da gabobin.

Yaduwar cutar Wilson yana haifar da autosomal recessive. Don haka ya zama dole a karbi kwafin biyu na kwayoyin halittar da aka canza (daga uba da uwa) don kamuwa da cutar. Wannan yana nufin cewa maza da mata suna fallasa daidai gwargwado kuma iyaye biyu da ke ɗauke da rikitacciyar kwayar halitta amma ba marasa lafiya ba suna da haɗari cikin huɗu a kowace haihuwa na yada cutar.

Akwai ingantaccen magani don dakatar da ci gaban cutar da rage ko ma kawar da alamunta. Har ila yau, ya zama dole a fara farawa da wuri, amma sau da yawa yana ɗaukar watanni masu yawa bayan bayyanar cututtuka don gano wannan cuta na shiru, wanda ba a san shi ba kuma wanda alamunsa ya nuna wasu yanayi da yawa (hepatitis wanda shine lalacewar hanta da kuma damuwa ga ciwon hauka). .

Maganin "chelating" yana sa ya yiwu a jawo hankalin jan karfe da kuma kawar da shi a cikin fitsari, don haka yana iyakance tarawa a cikin gabobin. Ya dogara ne akan D-penicillamine ko Trientine, magungunan da ake sha da baki. Suna da tasiri, amma suna iya haifar da mummunan sakamako (lalacewar koda, rashin lafiyar jiki, da dai sauransu). Lokacin da waɗannan illolin ke da mahimmanci, muna yin amfani da tsarin sarrafa zinc wanda zai iyakance ɗaukar jan ƙarfe ta hanji.

Yin dashen hanta na iya zama dole lokacin da hanta ta lalace sosai, wanda shine yanayin 5% na mutanen da ke fama da cutar Wilson (1).

Ana ba da gwajin gwajin kwayoyin halitta ga 'yan'uwan wanda abin ya shafa. Yana haifar da ingantaccen magani na rigakafi idan aka gano rashin lafiyar kwayoyin halitta a cikin kwayar halittar ATP7B.