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Menene trisomy 18, ko Edwards syndrome?
A lokacin hadi, kwai da maniyyi suna haɗuwa don zama tantanin halitta guda ɗaya, kwai-cell. Wannan yawanci ana ba shi da chromosomes 23 (goyan bayan gadon gado) suna fitowa daga uwa, da kuma chromosomes 23 daga uba. Sannan muna samun nau'i-nau'i 23 na chromosomes, ko 46 gabaɗaya. Duk da haka, yana faruwa cewa anomaly a cikin rarraba gadon gado yana faruwa, kuma an sami trinomial na chromosomes maimakon biyu. Muna magana akan trisomy.
Edwards ciwo (mai suna bayan masanin ilimin halitta wanda ya gano shi a cikin 1960) yana shafar nau'i 18. Mutum mai trisomy 18 don haka yana da chromosomes guda uku 18 maimakon biyu.
Abubuwan da ke faruwa na trisomy 18 suna damuwa tsakanin daya cikin haihuwa 6 daya kuma cikin 000 na haihuwa, akan 1 cikin 400 akan matsakaici don trisomy 21. Ba kamar Down syndrome (trisomy 21) ba. trisomy 18 yana haifar da mutuwa a cikin mahaifa a cikin kashi 95% na lokuta, aƙalla bisa ga portal don cututtukan da ba kasafai ba Marayu.
Alamomi da hasashen trisomy 18
Trisomy 18 shine trisomy mai tsanani, saboda alamun da yake haifarwa. Jarirai masu ciwon trisomy 18 suna gabatar da sautin tsoka mara kyau (hypotonia, wanda ke ci gaba zuwa hypertonia), rashin jin daɗi, wahalar tsotsa, dogayen yatsu waɗanda suka mamaye, murhun hanci, ƙaramin baki. Ana lura da jinkirin ci gaban cikin mahaifa da bayan haihuwa, da kuma microcephaly (ƙananan kewayen kai), rashin hankali da matsalolin mota. Lalacewar suna da yawa kuma akai-akai: idanu, zuciya, tsarin narkewa, muƙamuƙi, kodan da urinary fili… Daga cikin sauran abubuwan da suka shafi kiwon lafiya, za mu iya ambaton tsagewar leɓe, ƙafar ƙwallon ƙafa a cikin gatari kan kankara, kunnuwa sun faɗi ƙasa, mara kyau da angular (“faunas”) , spina bifida (rashin rufewar bututun jijiya) ko ƙwanƙwaran ƙashin ƙugu.
Saboda mummunan cututtukan zuciya, jijiya, narkewar abinci ko na koda. jarirai masu trisomy 18 yawanci suna mutuwa a farkon shekarar rayuwarsu. A cikin yanayin "mosaic" ko "translocation" trisomy 18 (duba ƙasa), tsawon rayuwa ya fi tsayi, amma bai wuce girma ba.
Saboda duk waɗannan matsalolin kiwon lafiya da ke da alaƙa da rashin daidaituwa na chromosomal, hasashe na trisomy 18 ba shi da kyau sosai: yawancin jariran da abin ya shafa (90%) suna mutuwa kafin su kai shekara ɗaya, saboda rikitarwa.
Ka lura duk da hakaTsawon rayuwa wani lokaci yana yiwuwa, musamman lokacin da trisomy ya kasance wani ɓangare, watau lokacin da sel masu chromosomes 47 (ciki har da 3 chromosomes 18) suka kasance tare da sel masu chromosomes 46, gami da 2 chromosomes 18 (mosaic trisomy), ko lokacin da chromosome 18 ƙari yana hade da wani biyu fiye da 18 (translocation trisomy). Amma mutanen da suka balaga suna da nakasa sosai, kuma ba sa iya magana ko tafiya.
Yadda za a gane trisomy 18?
Trisomy 18 ne sau da yawa ake zargin a kan duban dan tayi, a matsakaita a kusa da 17th mako na amenorrhea (ko 15th mako na ciki), saboda tayin malformations (a cikin zuciya da kuma kwakwalwa musamman), nuchal translucency ma lokacin farin ciki, girma retardation. Alamomi da ake amfani da su don tantancewar trisomy 21 wani lokaci ba su da kyau, amma wannan ba koyaushe haka yake ba. Don haka duban dan tayi ya fi dacewa don yin ganewar asali na trisomy 18. Karyotype na tayi (tsarin duk chromosomes) sannan ya sa ya yiwu a tabbatar ko a'a.
Trisomy 18: wane magani? Wane tallafi?
Abin takaici, babu magani har zuwa yau don magance trisomy 18. A cewar shafin Marayu, Maganin tiyata na rashin lafiya ba ya canza mahimmancin tsinkaye. Bugu da kari, wasu kurakuran sun kasance irin wadanda ba za a iya yi musu tiyata ba.
Gudanar da trisomy 18 don haka ya ƙunshi sama da duka kulawa da ta'aziyya. Manufar ita ce inganta rayuwar jariran da abin ya shafa gwargwadon iko, ta hanyar physiotherapy misali. Ana iya sanya iska ta wucin gadi da bututun ciki don ingantaccen abinci mai gina jiki da iskar oxygen. Ƙungiyar likitocin da yawa ke gudanar da gudanarwa.