Kodi Beckwith Wiedemann syndrome, momwe izo kumaonekera?

Anthu ambiri sanamvepo za matenda monga matenda Beckwith Wiedemann komabe izo zimachokeradi kawirikawiri. Malinga ndi kafukufuku, mwana wotereyu anabadwa pafupifupi aliyense ana 13.700. Matendawa amapezeka chifukwa cha kusintha khromozomu 11, kuti ndi matenda chibadwa. Kuneneratu pakutchulidwa zoterozo matenda pasadakhale kuli kovuta. Pafupifupi 85% ya makolo a mwanayo analibe konse ndi mtundu irregularity zokhudza chibadwa. Koma otsalawo 10-15% ya syndrome Beckwith Wiedemann ndi akatengela apabanja. Kodi muyenera kudziwa za matendawa, anasonyeza mmene chithandizo ndi chisamaliro kwa mwana - zonsezi ndipo tidzakambirana lero.

Kodi ichi

Beckwith Wiedemann syndrome - ichi sichina, koma ndi kuphwanya lamulo la kukula. Matendawa akhoza kukhala osiyana mbali khalidwe, koma angayambe ndi chimaonekera kwathunthu. Nthawi zambiri kumatanthauza kunja, pamene wakhanda wabadwa lalikulu (macrosomia) yolemera makilogalamu oposa 4 ndi ponso masentimita oposa 56. Mu ana akhoza kukhala akanagwiritsa ndi akamakonda mbali zosiyana za thupi, monga lilime lalikulu (macroglossia), kapena zachilendo, makutu lalikulu kapena maonekedwe awo unnaturally masaya curvy ndi zina zotero. Kawirikawiri limodzi ndi zilema wa peritoneum ndi (diastasis minofu, umbilical chophukacho), matenda aimpso, aang'ono predisposed kuti zotupa. Iwo mwina kuchuluka ena ziwalo, matenda a mtima zimachitika. Ana amadwala hypoglycemia (otsika shuga), khunyu angayambe pa mfundo imeneyi. Zikavuta, angayambe kufa.

Mapa moyo

Ana awa ndi osiyana ndi anzawo: ali yokulirapo, wapamwamba, ndipo nthawi yomweyo kukhala mafupa. Pamene matenda si anasonyeza zikuchepa, panthawi yake woyenerera thandizo madokotala ndi chithandizo chokwanira inaperekedwa - ndi Mapa bwino ndithu. M'kupita kwa nthawi, ndi kukula zachilendo ndi chitukuko kubweza mwachibadwa, thupi kukula ndi kufanana zophukiranso mmbuyo. Bwino izo zikusonyeza kusonyeza Beckwith Wiedemann syndrome, Photos ndi Pictures, m'munsi mwake. Iwo ali bwino zizindikiro zosonyeza matendawa: zikuluzikulu Chigaza, macroglossia, umbilical chophukacho mwana.

Kodi kudziwa

majini kuyezetsa dongosolo kwa kupatuka zotheka mutational imavuta kwambiri, koma akhoza kuthandiza kupeza pafupifupi 80% ya milandu. Makolo ayenera kukaona dokotala-zachibadwa, amene amayang'anira ntchito Ndime ya kuphunzira ndi adzakupatsani kukambirana zonse zokhudza nkhani ya munthu.

Tili ndi mayi woyembekezera akhoza zimasonyezanso syndrome Beckwith Wiedemann. Zizindikiro akhoza yodziwika ndi mavuto osiyanasiyana mimba. Nthawi zambiri, kuchuluka ndalamazo wa madzimadzi amniotic mozungulira mwana wosabadwayo, abnormally yaitali, lalikulu umbilical chingwe kapena latuluka, kwambiri kumaonjezera ngozi ya kubadwa masiku asanakwane. Kudziwika zolakwika zidzachitika pa nthawi ya ultrasound.

chithandizo

Kusanduka kulamulira zonse pa thanzi la mwanayo ndi kupereka iye thandizo lofunika milandu payekha. Ayenera kuwunika ntchito zomwe zili kashiamu mu magazi ndi shuga. Chiopsezo zotupa anthu awa ali pafupi 8%, tiyenera kukumbukira, ndi pa kukayikirana pang'ono kupempha thandizo moyo. Komabe, nthawi zambiri, chithandizo ndi bwino. Akulu amene pobadwa anapezeka ndi matenda Beckwith Wiedemann, ndemanga pa udindo ndi khalidwe la moyo anasiya zabwino ndithu. Savutika mavuto zosafunika thanzi ndi kukhala ndi moyo wonse.

Ana amene akudwala makrogloksii alowererepo anatumizidwa opaleshoni kukonza mawonekedwe a chinenero. Ndipotu kudwala akhoza kukhala ndi vuto lalikulu pamene kudyetsa mwana, kuthandiza kuti kulephera kupuma, ndi tsogolo labwino bwanji mawu khalidwe. The mavuto omwewo anathana ndi chophukacho umbilical kapena kusintha zina mwa ziwalo mkati. Kungafunikire thandizo la podiatrist ndi immunologist.

Ana awa ali zitakuvutani wa chisamaliro cha makolo. Pewani hypothermia, drafts ndi mitundu yonse ya matenda. Ana ndi matenda kawirikawiri ndi kuperewera kwa m'thupi, ndi chifukwa aliyense, ngakhale chimfine kungayambitse mavuto aakulu. Pa vuto pang'ono, kupempha thandizo kwa dokotala.

Kodi n'zotheka kuteteza

Kudziwa kusintha chibadwa DNA makolo awo, choncho kulosera za kubadwa kwa mwana amene ali ndi matenda a zitha kuchitikira mayesero kuyambirira pamaso akukonzekera kukhala ndi pakati. Koma ochepa mabanja achinyamata kuganiza za izo atakwatirana. Nthawi zambiri anthu kudziwa za izi wake "makamaka" atabadwa mwana ndi zizindikiro za Beckwith Wiedemann. masinthidwe The imafalikira mu autosomal lalikulu mtundu cholowa. Ndiko kuti, ngati wina wa abale ndi magazi - wanu kapena mnzanuyo - anali ngati kuswa ndi mwana mwayi kuti syndrome "tinatengera" 50%. Mwatsoka, vuto ndi mankhwala si koma n'zotheka. Yankho imeneyi kungakhale ndondomeko ya lidzawagwiritsenso umuna.