Ciwon Halitta na Halittar Da ke Cigaba Ƙarƙashin Kwayar Gizon
Mutuwar menkes wata cuta ne mai wuya, sau da yawa wanda ke cutar da cutar neurodegenerative wanda ke rinjayar iyawar jiki don karbar jan ƙarfe. Koyi game da asalin cutar, tare da bayyanar cututtuka, ganewar asali da kuma maganin kulawa.
Tushen
A 1962, likita mai suna John Menkes da abokan aikinsa a Jami'ar Columbia a New York sun wallafa wani labarin kimiyya game da 'ya'ya maza biyar waɗanda ke da ƙwayar cututtuka.
Wannan ciwo, wanda yanzu aka sani da cututtukan Mankes, Magunguna mai kinky gas ko Mutuwar ciwon Mankes, an gano shi a matsayin rikici na metabolism a jiki.
Tun da mutane da wannan cuta ba zasu iya karbar jan ƙarfe ba, kwakwalwa, hanta da jini da jini suna hana wannan muhimmin gina jiki. Hakazalika, wasu sassa na jiki, ciki har da kodan, ƙwaƙwalwa da ƙwayar ƙwayar ƙwayar jiki suna tara nau'i mai yawa.
Wane ne ke cutar da mutane?
Maganganun masifa suna faruwa a cikin dukan al'ummomi. Kwayar da aka samu ita ce ta X (mace) chromosome, wanda ke nufin cewa maza yawanci yawancin cutar ne. Mace da suke ɗauke da cutar ta jiki ba kullum suna da alamun bayyanar ba sai dai idan wasu yanayi masu ban mamaki basu kasance ba. An kiyasta mummunan cututtuka a ko'ina daga mutum ɗaya da 100,000 haihuwar haihuwa zuwa daya cikin yara 250,000.
Cutar cututtuka
Akwai bambanci da yawa na cututtukan Mankes, kuma bayyanar cututtuka na iya kasancewa daga m zuwa mai tsanani.
Tsarin mai tsanani ko samfurin yana da alamun bayyanar cututtuka, yawanci farawa lokacin da mutum yayi kimanin watanni biyu ko uku. Kwayoyin cututtuka sun haɗa da:
- Rashin halayen ci gaba (alal misali, jaririn ba zai iya ɗaukar nauyin)
- Ƙungiya ya zama rauni da "floppy," tare da ƙaramin ƙwayar tsoka
- Riƙe
- Balan girma
- Gashin gashin gashi yana da gajeren gajeren lokaci, mai raɗaɗi, m, da kuma juya (kamarar wayoyi) kuma yana iya zama fari ko launin toka
- Fuskatu yana sagging cheeks kuma furta jowls
Mutanen da ke da bambancin cututtukan Mankes, irin su cututtukan X-linked, za su iya ba su da dukkanin bayyanar cututtuka ko suna iya samun su zuwa digiri daban-daban.
Sanin asali
Baban da aka haife tare da cututtukan Mankes magunguna sun bayyana a al'ada a lokacin haifuwa, ciki har da gashin kansu. Iyaye sukan fara zaton wani abu ba daidai ba ne lokacin da yarinyar ke kusa da watanni biyu ko uku, lokacin da canje-canje ya fara faruwa. A cikin siffofin muni, cututtuka bazai bayyana ba har sai yaron ya tsufa. Mace da suke ɗauke da kwayar cutar ba su iya canza gashi, amma ba koyaushe ba. Ga abin da likitoci ke nema don yin ganewar asali:
- Ƙananan ƙarfe da ƙwayoyin ceruloplasmin a cikin jini, bayan yaron yana da makonni shida (ba a gano ba a lokacin)
- Matsakanin matakan da ke cikin ƙwayar cutar (za a iya gwada su a jarirai)
- Matsanancin ƙwayoyin catechol a cikin jini da kuma gurasar ƙwaya (CSF), har ma a cikin jariri
- Skin biopsy iya gwada ƙarfin metabolism
- Sakamakon nazarin kwayoyin gashi zai nuna Menn abnormalities
Jiyya Zɓk
Tun lokacin da Menkes ke hana ƙarfin jan ƙarfe don shiga jiki da gabobin jiki, to, a ma'ana, samun jan ƙarfe zuwa sel da gabobin dake buƙatar shi ya kamata taimakawa wajen kawar da matsalar, daidai Ba haka ba ne mai sauki.
Masu bincike sun yi kokari don bada injections na jan ƙarfe, tare da sakamakon da aka hade. Yana da alama cewa a baya a cikin yanayin cutar da cewa an ba da injections, mafi yawan sakamako ne. Magungunan ƙwayoyin cuta na cutar sun amsa da kyau, amma mummunan tsari ba ya nuna canji mai yawa. Wannan nau'i na farfesa, da sauransu, har yanzu ana binciken shi.
Har ila yau, magani yana mayar da hankalin akan maganin bayyanar cututtuka. Bugu da ƙari, likitocin kiwon lafiya, lafiyar jiki da na sana'a zai iya taimakawa wajen kara haɓaka. Mai bada abinci mai gina jiki ko mai cin abinci zai bada shawara ga cin abinci mai yawan calorie, sau da yawa tare da kariyar da aka hada da jaririn jariri.
Tsarin nazarin halittu na iyalin mutum zai gane masu sufuri da bada shawarwari da jagoranci kan hadarin sake komawa.
Idan an gano yaronka tare da cututtukan Mankes, za ka iya so ka yi magana da likitanka game da tantance kwayoyin halittar danginka. Nunawa zai gano masu sufuri kuma zasu iya taimaka wa likitan ku ba da shawara da kuma jagoranci akan hadarin dawowa, wanda shine kimanin daya a cikin dukkan ciki hudu. Kasancewa da The Menkes Foundation, kungiyar da ba ta riba ga iyalan da ke fama da Mutuwar Menkes, zai iya taimaka maka samun taimako.
Sources:
Kaler, SG (2002). Mace kinky gashi. eMedicine.
Ƙungiyar Mankes. (nd). Binciken Bincike.