Mene ne Beckwith Wiedemann ciwo, yadda shi bayyana kanta?

Mafi yawan mutane sun taba jin irin wannan cuta a matsayin Beckwith Wiedemann ciwo, amma duk da haka shi ba ya faruwa sosai da wuya. Bisa kididdigar da, wanda irin wannan yaro da aka haife a kan talakawan domin kowane 13.700 jariran. A ciwo ya auku a sakamakon canje-canje a chromosome 11, da cewa shi ne kwayoyin cuta. Hango da ya faru na wannan wata cuta a gaba shi ne kusan ba zai yiwu. Aƙalla 85% na iyaye na baby taba tsẽre, wani karkacewar tsari alaka itatuwa aure. Amma a cikin sauran 10-15% na Beckwith Wiedemann ciwo da aka gada. Me kana bukatar ka sani game da wannan rashin lafiya, shi ya saukar da yadda da magani da kuma kulawa da baby - duk da wannan kuma za mu yi magana a yau.

Menene wannan

Beckwith Wiedemann ciwo - wannan bai zama ba fãce wani take hakkin da tsari na girma. A cuta na iya samun jinsin halayyar fasali, amma zai iya faruwa da ita gaba daya m. Sau da yawa tsare externally, a lokacin da jariri da aka haife manyan (macrosomia) yin la'akari fiye da 4 kg da wata karuwa da fiye da 56 cm. A yara zai iya zama disproportionate da unbalanced sassa daban-daban na jiki, kamar wani babban harshe (macroglossia), ko sabon abu, manyan kunnuwa ko su sosai fom unnaturally curvy kumatunta da sauransu. Sau da yawa tare da lahani na peritoneum (diastasis tsoka, cibiyarki hernia), koda cuta, toddlers predisposed zuwa siffofin maruran. Suna iya sun karu da wasu kayan ciki, cututtukan zuciya faruwa. Yara da wahala daga qarancin ruwa (low jini sugar), seizures iya faruwa a wannan hasashe. A tsanani lokuta, za a iya faruwa m.

Forecast for rai

Wadannan yara ne daban-daban daga da takwarorinsu: suna da yawa ya fi girma, mafi girma, kuma suna da sauri ci gaba kashi taro. Lokacin da cutar ba a bayyana sharply, dace m taimako likitoci da isasshen kula da aka bayar - hasashen ne quite m. A tsawon lokaci, wani sabon abu girma da kuma ci gaban slows saukar da sauƙi, jiki size da rabbai billa da baya. A bayyane yake da shi ya nuna yadda za a bayyana Beckwith Wiedemann ciwo, Hotuna da Pictures, a kasa da shi. Su ne a fili bayyane alamun cutar: kara girman kwanyar, macroglossia, cibiyarki hernia a wani yaro.

Yadda za a gane

kwayoyin gwaji tsarin for yiwu mutational sabawa ne da wahala, amma zai iya taimakawa wajen gano game da 80% na lokuta. Iyaye kamata ziyarci wani likita-jini, wanda za su daidaita da nassi daga cikin nazari da kuma za su bayar da cikakken shawara game da mutum hali.

Muna da mace mai ciki kuma iya yin wahayinsa Beckwith Wiedemann ciwo. Alamun iya halin da daban-daban da rikitarwa ciki. Sau da yawa, wannan ya karu adadin ruwar a kusa da tayin, abnormally dogon, manyan cibiyarki igiyar ko mahaifa, muhimmanci na kara hadarin wanda bai kai haihuwa. Ganewa na sabawa faruwa a lokacin duban dan tayi.

magani

Rage wani m iko a kan kiwon lafiya na yaro, kuma samar da shi da dole taimako a cikin mutum lokuta. Ya kamata saka idanu da abun ciki na alli a cikin jini da kuma sukari. A hadarin marurai a cikin wadannan mutane ne game da 8%, shi ya kamata a tuna, da kuma a 'yar alamar tuhuma to ka nẽmi taimako cikin rayuwa. Duk da haka, a mafi yawan lokuta, magani ne nasara. Manya wanda a haihuwa kamu da Beckwith Wiedemann ciwo, feedback a kan matsayi da kuma ingancin rayuwa bar quite tabbatacce. Ba su sha wahala ba dole ba kiwon lafiya da matsaloli da kuma kai cikakken rai.

Jarirai fama da makrogloksii sanya m baki don gyara siffar harshen. Bayan duk, da Pathology iya zama wata babbar matsala a lokacin da ciyar da jariri, taimaka wa numfashi rashin cin nasara, kuma a nan gaba ma zai shafi murya quality. A wannan matsaloli suna warware tare da wani cibiyarki hernia ko wasu canje-canje a cikin kayan ciki. Yana iya bukatar taimako na wani podiatrist da immunologist.

Wadannan yara ne cikin matsananciyar bukatar parental kula. Guji hypothermia, wacce ta duba mana da dukan cututtuka. Yara da wannan ciwo sau da yawa da rigakafi, ƙarara, da kuma saboda wani, ko da na kowa sanyi zai iya kai ga tsanani da rikitarwa. A wata 'yar alamar matsala, ku nẽmi taimako daga likita.

Shin yana yiwuwa a hana

Gano kwayoyin canje-canje na chromosomes daga iyayensu, kuma haka hasashen da haihuwar jariri, tare da ciwo za a iya gudanar da gwaje-gwaje na farko kafin shirin daukar ciki. Amma sosai 'yan matasa iyalai su yi tunani game da shi bayan bikin aure. Sau da yawa mutane gano game da wannan da ya "musamman" bayan haihuwar jariri da ãyõyin Beckwith Wiedemann. The maye gurbi da aka ruwaito a wani autosomal rinjaye gado irin. Wannan shi ne, idan wani daga cikin danginsa - your ko da mijinki na - na da irin wannan warwarewarsu ne ɗansa ko 'yarsa da damar samun ciwo "gaji" ne 50%. Abin baƙin ciki, don magance matsalar da magani ne ba tukuna zai yiwu. Kawai mafita a cikin wannan halin da ake ciki na iya zama hanya da IVF hadi.