Menkes cuta

Cutar Menkes cuta ce ta gado wacce jiki ke samun matsalar shan jan ƙarfe. Cutar na shafar ci gaba, na tunani da na jiki.

Cutar Menkes tana faruwa ne ta hanyar lahani a cikin ATP7A kwayar halitta Launin yana sanya wuya ga jiki ya rarraba (safarar) jan ƙarfe cikin jiki. A sakamakon haka, kwakwalwa da sauran sassan jiki ba sa samun isasshen jan karfe, yayin da yake taruwa a cikin karamar hanji da koda. Levelananan matakin jan ƙarfe na iya shafar tsarin ƙashi, fata, gashi, da jijiyoyin jini, kuma ya tsoma baki tare da aikin jijiya.

Cutar Menkes yawanci ana gado ne, wanda ke nufin yana gudana a cikin iyalai. Kwayar kwayar halitta tana kan X-chromosome, don haka idan uwa ta ɗauki ɗayan nakasa, kowane ɗa nata yana da damar kashi 50% (1 cikin 2) na ɓarkewar cutar, kuma kashi 50% na 'ya'yanta mata za su zama masu ɗauke da cutar . Wannan nau'in gadon gado ana kiran shi recessive mai haɗin X.

A wasu mutane, cutar ba ta gado. Madadin haka, matsalar kwayar halitta ta kasance a lokacin da aka ɗauki cikin jariri.

Alamomin gama gari na cutar Menkes a jarirai sune:

• Mai laushi, kinky, steely, sparse, ko gashin kanshi
• Pudgy, rosy cheeks, sagging fata na fuska
• Matsalolin ciyarwa
• Rashin fushi
• Rashin sautin tsoka, floppiness
• Temperatureananan zafin jiki na jiki
• Rashin hankali na hankali da jinkirta haɓaka
• Kamawa
• Canjin kwarangwal

Da zarar an yi zargin cutar Menkes, gwaje-gwajen da za a iya yi sun haɗa da:

• Ceruloplasmin gwajin jini (abin da ke jigilar jan ƙarfe a cikin jini)
• Gwajin jinin tagulla
• Al'adar kwayar cutar fata
• X-ray na kwarangwal ko x-ray na kwanyar
• Gwajin kwayar halitta don bincika lahani na ATP7A kwayar halitta

Jiyya yawanci yana taimakawa ne kawai lokacin da aka fara shi farkon lokacin cutar. Anyi amfani da allurar tagulla cikin jijiya ko ƙarƙashin fata tare da sakamako mai haɗi kuma ya dogara da ko ATP7A kwayar halitta har yanzu tana da wasu ayyuka.

Waɗannan albarkatun na iya samar da ƙarin bayani game da cutar ta Menkes:

• Nationalungiyar forasa don Rare Rashin Lafiya - rarediseases.org/rare-diseases/menkes-disease
• NIH / NLM Tsarin Gida na Gida - ghr.nlm.nih.gov/condition/menkes-syndrome

Yawancin yara masu wannan cuta suna mutuwa a tsakanin fewan shekarun farko na rayuwa.

Yi magana da mai ba da lafiyar ku idan kuna da tarihin iyali na cutar Menkes kuma kuna shirin samun yara. Jaririn da ke wannan yanayin sau da yawa yakan nuna alamun tun farkon yarinta.

Duba mai ba da shawara kan kwayar halitta idan kuna son haihuwa kuma kuna da tarihin iyali na rashin lafiyar Menkes. Ya kamata dangin uwa (dangi a bangaren uwa daga dangin) na wani yaro mai wannan ciwo ya kamata a ga masanin kimiyyar gado don gano ko su masu ɗauka ne.

Steely cutar cuta; Ciwon gashi na Menkes kinky; Kinky cututtukan gashi; Cutar safarar tagulla; Trichopoliodystrophy; Rashin haɗin jan ƙarfe

• Hypotonia

Kwon JM. Cutar cututtukan Neurodegenerative na yara. A cikin: Kliegman RM, St. Geme JW, Blum NJ, Shah, SS, Tasker RC, Wilson KM, eds. Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi 617.

Turnpenny PD, Ellard S. Inborn kurakurai na metabolism. A cikin: Turnpenny PD, Ellard S, eds. Abubuwan Emery na Kwayoyin Halitta na Lafiya. 15th ed. Philadelphia, PA: Elsevier; 2017: babi na 18.