He aha te mea Beckwith Wiedemann syndrome, pehea faaite te reira iho?

kore kua nuinga o te iwi rongo o te mate pērā i Beckwith Wiedemann syndrome, engari ahakoa e kore e puta i te reira rawa uaua. E ai ki ngā tatauranga, whanau kotahi tamaiti taua te runga toharite mō katoa 13.700 ngā pēpi. tupu te syndrome rite ki te hua o huringa i roto i te pūira 11, e te mea he mate ira. Matapaetia te takanga o te mate taua i roto i te mua he tata e taea. Tata 85% o nga matua o te tamaiti e kore i ki te whakataetae i tetahi tirohanga e pā ana ki iranga. Otiia i roto i te toe 10-15% o Beckwith Wiedemann syndrome riro te. He aha e hiahia ana koe ki te mohio e pā ana ki tenei mate, whakakitea e ia pehea te maimoatanga me te tiaki o te tamaiti - tenei katoa a ka kōrero tatou i teie mahana.

He aha te tenei

Beckwith Wiedemann syndrome - he mea ko te takahi o te ture o te tupu tenei. kia whai motuhake āhuatanga āhuatanga te mate, engari ka taea e puta, me te he tino mārama. Pinepine tautuhi waho, ka whanau te hou te nui (macrosomia) kotahi neke atu i te 4 kg me te hua o neke atu i te 56 cm. I roto i taea ngā tamariki e taikaha me te porangi wāhanga rerekē o te tinana, pērā i te arero nui (macroglossia), ranei rerekē, taringa nui ranei ratou ahua rawa i puwhenua te paparinga Māpuna, me te pera i runga i. E mea pinepine tahi e te hē o te peritoneum (diastasis uaua, whaturama pito), disorders tākihi, ngā kōhungahunga aro ki te pukupuku. kia Kua nui haere ratou etahi whekau, puta mate ngakau. mamae tamariki i suka (huka toto iti), ka taea e haurangi puta i runga i tenei kaupapa. I roto i ngā take kino, e taea puta mate.

Matapae mō te ora

Ko ēnei tamariki rerekē i ō rātou hoa: he nui nui, teitei ratou, a hohoro tonu ratou te whakawhanake wheua papatipu. A, no te kore e whakahuatia te mate koi, i ngā wā tohu tākuta awhina me te tiaki e tika - ko rawa pai te matapae. Neke atu i te wa, he tupu rerekē, me te whanaketanga pōturi iho fakanatula, te rahi te tinana me te hanganga tāwhana hoki. Mārama whakaatu reira pehea ki te whakaatu Beckwith Wiedemann syndrome, Whakaahua me Pikitia, i raro i te reira. E mārama ratou tohu kitea o te mate: angaanga rahi, macroglossia, whaturama pito i roto i te tamaiti.

Me pēhea te ki te tautuhi

pūnaha whakamātautau ira mō te taea ine mahora mutational ko tino uaua, engari ka taea e tauturu i te reira ki te tautuhi e pā ana ki 80% o te wā. kia toro mau metua e te rata-geneticist, ko wai e fakafekau'aki te wahi o te ako, a ka hoatu he kōrero tonu e pā ana te take takitahi.

E tatou e taea te hoki tetahi wahine hapu whakakitea Beckwith Wiedemann syndrome. kia āhuatanga e ngā pōauautanga o te hapūtanga tohumate. E mea pinepine, tenei nui nui haere o waikahu huri noa te kukune, tomuri roa, taura nui pito ewe ranei, tino whakanuia ana te mōrea o te whanau taimi halá,. Haurapa o ine puta i te wa o te ultrasound.

maimoatanga

Heke ki te mana tamau i runga i te hauora o te tamaiti, me te whakarato ki a ia te āwhina e tika ana i roto i te wā takitahi. Me aroturuki te ihirangi o te konupūmā i roto i te toto me te huka. Ko te mōrea o te pukupuku i roto i enei iwi, ko te pā ana ki 8%, kia mahara ai, me i te whakapae iti ki te ui i te tauturu puta noa te ora. Heoi, i roto i te nuinga o te wā, he angitu maimoatanga. Ngā pakeke nei i whanau i pāngia ki Beckwith Wiedemann syndrome, mahue rawa pai urupare i runga i te mana me te kounga o te ora. e kore e ratou mamae raruraru hauora faufaa, me te arahi i te ora tonu.

Kohungahunga e mate ana i makrogloksii wawaotanga hāparapara whakaritea ki te whakatika i te āhua o te reo. I muri i te katoa, ka taea e te māuiuitanga e he raruraru nui, ka kai i te tamaiti, te āwhina ki te kore romahā, a i roto i te heke mai pā hoki te kounga reo. E faatiti'aifarohia te taua raruraru ki te whaturama pito atu huringa i roto i te whekau ranei. Kia rapua e te reira i te āwhina o te podiatrist me immunologist.

Ko enei tamariki i roto i te hiahia pau o te tiaki mātua. A ape i hauhauaitu, tauira me katoa o mate. maha i tamariki ki tenei syndrome hē ārai, me te mea tetahi, ara e taea e te matao noa arahi ki pōauautanga nui. I te raruraru iti, rapu tokoni i te tākuta.

He reira taea ki te ārai i

Te tautuhi i te huringa iranga o pūira i to ratou mau metua, a reira matapae taea anake te whakahaere te whanautanga o te tamaiti ki te syndrome whakamātautau tuatahi i mua i te whakamahere hapūtanga. Ko ki torutoru rawa mau utuafare taitamariki whakaaro e pā ana ki reira i muri i te marena. E mea pinepine te iwi kitea i roto e pā ana ki tenei i tona "ngā" i muri i te whanautanga o te tamaiti ki te tohu o Beckwith Wiedemann. tuku te irakētanga i roto i te momo kainga ngoi autosomal. Ko, ki te tetahi o nga whanaunga toto - koutou ranei o tou hoa - i ko te pakaru taua te tama, te tamahine ranei, he whai wāhi ki te tiki syndrome "riro" Ko 50%. Kia aroha mai, ki te whakaoti i te raruraru ki te kore e taea ano rongoā. Ko te otinga anake i roto i tenei āhuatanga kia te tukanga o IVF kikiritanga.