Menkes ciwo: bayanin da ganewar asali

Menkes ciwo, wanda kuma ake kira da cutar curly gashi - a rare da sosai tsanani kwayoyin cuta. Ana rinjayar yara samãrin da kuma, da rashin alheri, ba za a iya bi.

A Sanadin cutar

Menkes ciwo ne sakamakon rashin iya aiki ATR7A gene. A sakamakon da anomaly jiki ba ya sha jan karfe, wanda aka ajiye a cikin kodan, da kuma duk sauran gawawwakin fuskantar tsanani ruwa danniya, jurewa m, halakarwa. Da farko, da wahala daga zuciya, kwakwalwa, kasusuwa, jijiyoyi, da kuma gashi. Cutar da aka gada, kuma shi ne sosai rare. A hadarin shi ne game da 1 a 50-100 miliyan kuma an rarraba, yafi a cikin maza. A mace yara ciwo kusan ba ya faruwa.

A farko bayyanar cututtuka na Menkes ciwo

A yaro haife tare da wannan cuta, dubi da kuma ji da cikakken al'ada a farkon makonni na rayuwa. Shi ne kawai wata na uku daga cikin cututtuka bayyana, ya nuna cewa baby tasowa Menkes ciwo:

• Alamar gashi a kan tabo ya auku saukar da wani dan jariri. Su ne sosai rare da kuma haske. A kusa dubawa shi ne, bayyananne cewa gashi ne sosai m kuma lauye. Su duba rude. Lauye kamar yadda hairs da girare.
• A fata ne m pallor.
• Baby fuskanci quite plump.
• Bridge na hanci ne lebur.
• Saukar da zazzabi.
• Ciyar da jariri zama matsala. Ci ne kusan ƙarancin. Bugu da kari, akwai saɓani a cikin hanji halaye.
• Kid m, barci da kuma kasãla, fuskarsa ya nuna kusan babu tausaya. Akwai dukan alamu na kula.
• Baby sau da yawa azaba cramps.
• Child muhimmanci lagging bayan da takwarorinsu da kuma daina aikata ko abin da ya riga ya gudanar ya koyi.

ganewar asali na ciwo

Ya kamata a lura cewa mutane da yawa rare cuta da wuya a gane asali. Daya dalilin wannan - matalauta sani na yara likitoci. A cikin hali na Menkes ciwo pediatrician iya faɗakar da wani sabon abu irin yaro gashi. M cututtuka su ne cramps, wanda lokaci zuwa lokaci bayyana a cikin yaro.

Mutane da yawa na sama bayyanar cututtuka faruwa a sauran, yanzu kasa hatsari cututtuka. Saboda haka, samun su a cikin jariri tsoro ba lallai ba ne. Amma ya zama dole, don su bincika shi. The main iri bincikowa da Menkes ciwo ne mai jini gwajin ga matakan da kasancewar a cikin shi na jan karfe da X-haskoki kasũsuwa, ashe, wanda za a iya nuna su halayyar canje-canje.

cutar rigakafin

Abin baƙin ciki, ciwo rigakafin hanyoyin Menkes magani ya ba tukuna ƙirƙira. A hadarin - namiji jariran da suka yi zumunta tare da cutar. Ƙayyade da cuta a wani wuri mataki na tayi ci gaba, da kuma more shi ne kusan ba zai yiwu ba a hana. Hakika, wasu mata suna tambayar kansu tambayar ko yana yiwuwa ya shirya ciki tare da Menkes ciwo a cikin iyali na mijinta? Amsar wannan zai iya kawai ba kyau jini, wanda zai tantance ribobi da fursunoni, zai gane asali, a zana "kwayoyin itace" kuma amma sai bushãra da mataki na hadarin. A bu mai kyau ya dauki wani mataki a kan shiryawa da zũriyarta kawai bayan shawara da masana.

Jiyya curly gashi cuta

Abin baƙin ciki, Menkes ciwo ne da wani m cutar. Forecast a shi da wuya. Cutar progresses hanzari, haddasa babu ja canje-canje a cikin jiki. Bugu da kari ya shafi tunanin mutum retardation, wanda kusan ko da yaushe tare da wani ciwo, damuarn da ci gaban da juyayi tsarin, illa zuciya aiki, kashi tsarin canje-canje.

Rayuwa tare da Menkes ciwo ne takaice. Mai yara mutu bayan biyu zuwa shekaru uku bayan haihuwa. Sau da yawa da ta faru ba zato ba tsammani - a kan bango na janar kwanciyar hankali - na ciwon huhu, cututtuka ko katsewa na jini.

Ko da yake jiyya a matsayin irin wannan magani ba ya sani, akwai hanyoyi don sauƙaƙe haƙuri da yanayin. Wannan shi ne wani wucin gadi wadata na jan karfe jiki, wanda aka gudanar intravenously. Wannan far ne da ɗan hana ci gaban da cutar da kuma jera gusar da cututtuka. Amma kawai batun dace farko na mata - wato, daga farko kwanaki ko a mafi makonni na rayuwa (har shi ne babu ja canje-canje a cikin kwakwalwa). Wanne, alas, shi ne kusan ba zai yiwu - a gaskiya symptomatic hoto bayyana kawai watanni uku. A wasu lokuta, likitoci za su iya bayar da kawai taimaka far.

Sosai da wuya, amma shi da ya faru da cewa Menkes ciwo ya auku a wani m form. Wannan irin cutar da ake kira da occipital Kakakin ciwo da kuma halin da halakar connective nama. Marasa lafiya tare da wannan ganewar asali ba lagging a baya a shafi tunanin mutum da ci gaba, amma karshen sakamakon shi ne har yanzu lamentable. The kawai cuta fara ci gaba sosai daga baya: game da goma da haihuwa.