ImpiloIzifo nemibandela

Kuyini Beckwith Wiedemann syndrome, kanjani ukuthi kuziveza?

Abantu abaningi abakaze bezwe isifo esinjengo Beckwith Wiedemann syndrome, kodwa nokho-ke ingekho kakhulu kuyaqabukela. Ngokwezibalo, nengane eyodwa ezifana okuzelwe ngokwesilinganiso ngoba zonke izingane 13.700. Lesi sifo kwenzeka ngenxa yezinguquko chromosome 11, ukuthi kuyinto isifo esidluliselwa ngofuzo. Ukubikezela okuvela kuyo leso sifo kusengaphambili cishe kungenakwenzeka. Cishe 85% abazali ingane angakaze ubuhlanga noma iyiphi ukuzwe ezihlobene zofuzo. Kodwa ku asele 10-15% of Beckwith Wiedemann sifo njengefa. Yini odinga ukuyazi mayelana nalesi sifo, wembula indlela yokwelapha kanye isaneli - konke lokhu nokunye sizobe ukukhuluma namuhla.

Yini lena

Beckwith Wiedemann syndrome - lena lutho kodwa ukunikezwa kwe-ukulawulwa ukukhula. Lesi sifo angase abe nezici abahlukene isici, kodwa kungenzeka futhi esobala ngokuphelele. Ngokuvamile kuchazwe ngaphandle, lapho usana okuzelwe ezinkulu (macrosomia) enesisindo esingamakhilogremu angaphezu 4 kg kanye okusho ukukhuphuka okungaphezulu kuka 56 cm. Ezinganeni kungaba izingxenye ongalingani futhi ongenakulinganisela ezihlukeneko zomzimba, njengemoto ulimi ezinkulu (macroglossia), noma okungavamile, izindlebe ezinkulu noma kakhulu ifomu yabo ngendlela ephambene neyemvelo izihlathi curvy nokunye. Ngokuvamile ephelezelwa izici peritoneum (diastasis imisipha, umbhunu enkabeni), iziyaluyalu kwezinso, izingane beyizidlova izimila. Kungenzeka ukuthi kunyuke ezinye izitho zangaphakathi, isifo senhliziyo kwenzeka. Izingane uhlushwa kahle kungakhuphula izinga likashukela (kashukela ongaphakeme), ukuquleka singenzeka ngesisekelo salokhu. Ezimweni ezimbi kakhulu, singenzeka ebulalayo.

Isibikezelo ukuphila

Lezi zingane azizona ezahlukene kontanga: zingabantu elikhulu kakhulu, ephakeme, futhi ngokushesha ukuthuthukisa amathambo eqinile. Lapho lesi sifo hhayi uzwakalise ngokucijile, ngesikhathi esifanele afanelekayo usizo odokotela nokunakekela ezanele enikeziwe - isibikezelo kuyinto ngempela evumayo. Ngokuhamba kwesikhathi, ukukhula okungavamile nokuthuthukiswa kubambezela ngokwemvelo, usayizi umzimba kanye olinganise bounce back. Kusobala-ke kubonisa ukuthi ukuze abonise ukuthi Beckwith Wiedemann syndrome, Izithombe Isithombe, ngenzansi. Ziyakwazi ngokucacile izimpawu ezibonakala lesi sifo: skull lakhulisiwe macroglossia, umbhunu enkabeni e ingane.

Indlela yokubona

zofuzo ukuhlolwa system for kungenzeka ukuphambuka mutational kuyinto kubenzima, kodwa kungakusiza ukuhlonza mayelana 80% amacala. Abazali kufanele uvakashele udokotela-sezakhi zofuzo, ngubani uzakulumathisa ukudlula cwaningo futhi bayokwenza babonisana egcwele maqondana necala ngabanye.

Sine owesifazane okhulelwe zingembula Beckwith Wiedemann syndrome. Izimpawu zingase libhekene yezinkinga ezihlukahlukene sokukhulelwa. Ngokuvamile, leli nani lenyuka amniotic fluid emhlabeni ezingenzeka embungwini, ngokungavamile eside, esikhulu umzanyana noma yi-placenta, kakhulu kwandisa ingozi wazalwa kungakabi isikhathi. Ukuthola zokuhluka zenzeka ngesikhathi ultrasound.

ukwelashwa

Ayosinda isilawuli njalo phezu impilo yengane futhi kumnika ngosizo oludingekayo ezimweni ngazinye. Kufanele ukuqapha okuqukethwe calcium egazini kanye noshukela. Ubungozi izimila kulezi abantu imayelana 8%, kufanele sikhumbule, futhi ngesikhathi izinsolo kancane ukucela usizo kukho konke ukuphila. Nokho, ezimweni eziningi, ukwelashwa okuphumelelayo. Abantu abadala abangaqondi ngesikhathi sokuzalwa kwatholakala Beckwith Wiedemann syndrome, impendulo ngesimo nezinga lokuphila yashiya impela omuhle. Abahlushwa izinkinga zezempilo ezingadingekile futhi waphila ukuphila okugcwele.

Izinsana abaphethwe makrogloksii babelwe kokungenela kuhlinzwa ukulungisa ukuma ulimi. Phela, zokugula kungaba inkinga engathí sina lapho ondla ingane, asiza nokuvaleka kwemigudu yokuphefumula, futhi esikhathini esizayo futhi kuthinte izinga izwi. Kunezinkinga ezifanayo isixazululekile nge umbhunu enkabeni noma ezinye izinguquko kwezitho zangaphakathi. Kungase kudinge usizo wezinyawo futhi immunologist.

Lezi zingane azizona zidinge ukunakekelwa kwabazali. Gwema hypothermia, abhale luhlaka abuye zonke izinhlobo izifo. Izingane nale syndrome ngokuvamile babe kwamaphutha mzimba, nangenxa yokuthi noma yiziphi, ngisho umkhuhlane kungaholela eziyingozi. Ngesikhathi inkinga kancane, funa usizo lukadokotela.

Kungenzeka yini ukuvimbela

Thola izinguquko zofuzo wama-chromosomes kubazali babo, futhi-ke ukubikezela ukuzalwa kwengane sifo kungaba kuqhutshekelwe ukuhlolwa kwangaphambilini ngaphambi uhlela ukukhulelwa. Kodwa abambalwa kakhulu imindeni abasha ukucabanga ngakho emva komshado. Ngokuvamile abantu ngizwe ngale "ethile" bakhe ngemva kokuzalwa komntwana ne izimpawu Beckwith Wiedemann. I kuguquka idluliselwa i autosomal evelele ifa hlobo. Okusho ukuthi, uma noma yiziphi izihlobo igazi - bakho noma oshade naye - waba kwephula uyindodana noma indodakazi ithuba syndrome bathola "ifa" 50%. Ngeshwa, ukuxazulula inkinga ngemithi akunakwenzeka okwamanje. Isixazululo kuphela kulesi simo kungenzeka inqubo IVF kokukhulelwa.

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