Yintoni Beckwith Wiedemann syndrome, ukuthi kuziveza njani ngokwawo?

Abantu abaninzi abazange ove sifo efana Beckwith Wiedemann syndrome, kodwa ke oko akwenzeki kunqabile kakhulu. Ngokutsho manani, omnye umntwana wazalwa ngomhla avareji ukuba zonke iintsana 13.700. Syndrome kwenzeka ngenxa yeenguqu chromosome-11, oko kukuthi abe sisifo yemfuza. Qikelela ukwenzeka sifo kwangaphambili nzima. Malunga nama-85% wabazali lo mntwana engazange babeye yobuhlanga nasiphi na isitenxo esihlobene imizila yemfuza. Kodwa i-10-15% of Beckwith Wiedemann syndrome into njengelifa. Into ekufuneka uyazi lwesi sifo, watyhila indlela unyango nokhathalelo umntwana - ndiza konke oku kwaye uthethe namhlanje.

Yintoni le

Beckwith Wiedemann syndrome - le nto kukwaphula umthetho ukukhula. Isifo inokuba weempawu ezibonakalayo iimpawu, kodwa kungenziwa kwaye sikhanya ngokupheleleyo. Kudla kuchaziwe ngaphandle, xa kuzalwa wazalwa enkulu (macrosomia) anobunzima ngaphezulu kwe-4 kg kunye nokwanda engaphezulu kwe-56 cm. Xa abantwana babe kwiindawo engahambisani kunye engalungelelananga ezahlukeneyo umzimba, njengokuba ulwimi elikhulu (macroglossia), okanye engaqhelekanga, iindlebe ezinkulu okanye ifomu wabo ngokuchasene nemvelo izidlele curvy njalo njalo. Soloko ilandelwa lutshintsho lwemithetho iintsilelo le peritoneum (diastasis kwezihlunu, Ithemba yosana), ukuphazamiseka sezintso, abasafunda ukuhamba kubuphepha ngamathumba. Kusenokwenzeka ukuba ngu enyama yangaphakathi, isifo sentliziyo kwenzeka. Abantwana bayahlupheka ukusuka hypoglycemia (eliphantsi iswekile yegazi), ukuxhuzula kunokuthi kwenzeke phezu kwesi siseko. Kwiimeko kakhulu, kungenzeka yingozi.

Sase- ubomi

Ezi kids ezahlukeneyo oontanga babo; ke omkhulu, ngaphezulu, yaye ngokukhawuleza ukuphuhlisa amathambo. Xa esi sifo ingachazwayo kakhulu, ngexesha oogqirha uncedo abaqeqeshiweyo kunye nokhathalelo olwaneleyo yabonelelwa - lentelekelelo yinto entle. Ekuhambeni kwexesha, i ukukhula engaqhelekanga kunye nophuhliso ehla ngokwendalo, ubungakanani umzimba kunye kugqithiso sime ngeenyawo. Ngokucacileyo libonisa ukuba sibonise indlela Beckwith Wiedemann syndrome, Amafoto kunye Umfanekiso, esingezantsi. Ewe ngokucacileyo iimpawu ezibonakalayo esi sifo: ukakayi ezandisiweyo, macroglossia, Ithemba yosana emntwaneni.

Indlela yokubona

inkqubo yokuvavanya yemfuza zokwahluka kunokwenzeka mutational inzima kakhulu, kodwa oko kunceda ukuchonga malunga nama-80% amatyala. Abazali kufuneka atyelele gqirha-zofuzo, ngubani na oya kulungelelanisa elingaphesheya sifundo kwaye ingaba ukunika ibhunga epheleleyo ngokuphathelele imeko yomntu ngamnye.

Thina umfazi okhulelweyo onokuzibona Beckwith Wiedemann syndrome. Iimpawu ukuze luphawulwa iingxaki ezahlukeneyo yokukhulelwa. Ngokufuthi, le kwenani kolwelo fluid ngeenxa ndingekazalwa, elide ngokungaqhelekanga, imfesane enkulu yosana okanye ngumkhaya, kwandisa kakhulu umngcipheko wokuzalwa kwexesha. Efumanise ezinxaxhileyo kwenzeka ngexesha ultrasound.

unyango

Kuyehla kube ulawulo rhoqo phezu impilo yomntwana nokubonelela kuye ngoncedo oluyimfuneko kwiimeko ngamnye. Ukuba iliso umxholo ikhalsiyam egazini kunye neswekile. Umngcipheko yamathumba kwezi bantu yi malunga ne-8%, kufuneka kukhunjulwe oko, yaye urhano encinane ukucela uncedo ubomi. Nangona kunjalo, kwiimeko ezininzi, unyango kuphumelela. Abantu abadala ekuzalweni kwafunyaniswa Beckwith Wiedemann syndrome, ingxelo malunga nemeko kunye nomgangatho wobomi yashiya impela HIV. Bona abazani iingxaki ezingeyomfuneko impilo baphile ubomi ngokupheleleyo.

Iintsana abaphethwe makrogloksii ungenelelo ngotyando eyabelwe ukulungisa imilo ulwimi. Ngapha koko, le ngezifo inokuba yingxaki enkulu xa ukondla usana, izakunceda ukusilela yokuphefumla, kwaye kwixesha elizayo kwakhona kuchaphazela umgangatho ilizwi. Iingxaki manye isonjululwe kunye Ithemba yosana okanye ezinye iinguqu izibilini. Mhlawumbi kufuneka lifune a podiatrist kunye engokuthintelwa.

Ezi kids ndiswele kakhulu ukhathalelo kwabazali. Kuphephe emzimbeni, uyilo kunye nazo zonke iintlobo zosulelo. Abantwana nalo syndrome basoloko kusekho omzimba, yaye naziphi na, nkqu umkhuhlane kungakhokelela kubunzima ezinzulu. Le ngxaki incinane, funa uncedo kugqirha.

Ngaba kunokwenzeka ukuba ukunqanda

Chonga utshintsho genetic zofuzo kubazali babo, ngoko ke ukuqikelela ukuzalwa komntwana kunye syndrome iyakwenziwa kuphela iimvavanyo zokuqala phambi kokuba uceba ukukhulelwa. Kodwa iintsapho bambalwa abaselula kakhulu ukuba bacinge ngayo emva kokuba betshatile. Ngokuqhelekileyo abantu ukufumanisa malunga 'ethile' zakhe oku emva kokuzalwa kosana kunye iimpawu Beckwith Wiedemann. I-guquko ezidluliselwa an autosomal uhlobo ilifa lubalaseleyo. Oko kukuthi, ukuba naziphi na izalamane igazi - wakho okanye iqabane lakho - waba kukophula enjalo unyana okanye intombi ithuba ukufumana syndrome "ilifa" yi-50%. Ngelishwa, ukusombulula ingxaki ngamayeza ayikho kodwa kunokwenzeka. Isisombululo kuphela kule meko kusenokuba inkqubo ka-IVF isichumiso.