Hunter ciwo - a rare kwayoyin cuta

A magani, akwai da dama daga m cututtuka, da suka hada da kuma Hunter ciwo (Mucopolysaccharidosis irin 2), wanda, misali, kawai game da mutane 50 da lafiya a Rasha. A cuta ne kwayoyin da aka shige daga uwa zuwa da boys. Duk da ransa uwar iya ba ka sani cewa shi ne m na lalace gene. Yiwuwar haihuwar jaririn da Pathology na wadannan mata - 50%. Amma shi na iya faruwa wuccin (harben) maye gurbi a cikin kwayoyin halittu da tayin, amma iyaye ba su da munanan.

Hunter ciwo, ginshikai na cin gaban

A cikin mutane akwai dubu daban-daban na rayuwa matakai cewa haifar da "sharar gida abu" ne fitarwa zuwa waje. Lokacin da Hunter ciwo keta musayar mucopolysaccharides (glycosaminoglycans) ba a nuna, amma tara a duk jikin kyallen takarda. Wannan shi ne saboda gaskiyar cewa babu enzyme iduronatsulfataza. A fili yake cewa a irin wannan yanayi da gabobin da kuma tsarin gushe aiki yadda ya kamata, akwai take hakki.

Hunter ciwo, na asibiti hoto

M bayyanar cututtuka fara bayyana ne kawai bayan biyu zuwa uku da shekaru, yara suna haife al'ada, da kuma iyãyensa ne m da cuta. Facial siffofin zama m murya, kuma, numfashi zama m, kuma da yaron ya fara samun rashin lafiya mafi sau da yawa numfashi kwayar cututtuka. Bayyanar da yaro shi ne cewa a lokacin farin ciki fata a kan fuskarsa, short wuyansa, wani m hakora, m lebe, harshe, da hanci. All yara da Hunter ciwo ne don haka kama da juna, cewa suna dauka domin 'yan'uwa.

Bayan shekaru uku ko hudu da haihuwa yaro zama da wuya a tafiya, stiffness na gidajen abinci zama, ya yi hasarar daidaituwa, za a iya fada. A dukan kwarangwal tsarin da aka canza.

Fara cuta na psyche, da yaro zai iya zama m ko m. Wasu yara stalls. Da basira da cewa yaro ya samu zuwa ga shekaru, da aka rasa. Ya zama m, ba magana.

Kusan dukan marasa lafiya rinjayar da zuciya, rayuwa samfurin accumulates a bawuloli, haddasa su zuwa thicken. A samartaka, da canje-canje ne imperceptible, farkon keta lissafta ga ƙarfinsa.

Akwai biyu iri: A Hunter ta cutar cututtuka da kuma B. A cikin farko form, ci gaba cikin sauri, akwai zo da wani shafi tunanin mutum retardation, da kuma na biyu nau'i ne sauki a lokacin da yaro ya ajiye m. Dangane da irin cuta rayuwa Hasashen mutane na iya kai 50-60 shekaru. Duk da haka, tare da m siffofin da yara rayu har zuwa 8-9 shekaru.

ganewar asali da cutar

Manufa bambance-bambancen ganewa na hereditary cututtuka - kayyade nazarin da tayin. Amma irin wannan nunawa ba, saboda haka, ware da pre-rare cuta ne ba zai yiwu ba.

A cikin fitsari da marasa lafiya saukar da wani babban adadin heparan sulfate da dermatan.

X-ray hoto na kwarangwal tsarin - mahara dysostosis (anomalies na kwarangwal ci gaba).

Hunter ciwo magani

Drug domin lura da mucopolysaccharidosis irin 2 da aka hada da ke da samarwar enzyme. "Elapraza" tana nufin wani wajen. Duk da haka, yana yiwuwa a samu ba dukan marasa lafiya, da miyagun ƙwayoyi halin kaka ne tsada sosai, kuma tana samuwa ne kawai kasashen waje.

Jiyya na yara da Hunter ciwo ya kamata a biya ta jiha, amma hukumomi ƙaryata game da su, tun da shekara-shekara amfani da mutum ne m ga kasafin kudin domin kiyaye dukan asibitin. Amma lura da wadannan yara rai, shi za a iya kwatanta ta da ciwon sukari far a lokacin da wani mutum kullum yana bukatar insulin. Kowa ya san cewa ba tare da insulin a ciwon sukari ba zai rayu tsawon, wannan halin da ake ciki da kuma tare da wannan Pathology. Iyaye wanda har yanzu ko ta yaya sarrafa don samun miyagun ƙwayoyi (tallafawa, sadaka), ce cewa yaro yana samun sauki, lokacin da na fara yi tafiya a sake da kuma rayuwa a mafi al'ada rayuwa.