Chii Beckwith Wiedemann urwere, sei chinoratidza pacharo?

Vanhu Vazhinji havasati vanzwa yakadaro chirwere sezvo Beckwith Wiedemann urwere, asi zvisinei haina kuitika chaizvo kashoma. Maererano nenhamba, wakadai mwana azvarwa paavhareji zvose 13.700 navacheche. The chirwere kunoitika somugumisiro kuchinja chromosome 11, kuti ane majini chirwere. Kufungidzira panowanikwa chirwere chakadaro pachine kwakaoma zvisingaiti. Inenge 85% of vabereki mwana kumbobvira aifanira nezvemarudzi chero irregularity chokuita genetics. Asi dzasara 10-15% kubva Beckwith Wiedemann chirwere nhaka. Zvaunofanira kuziva nezvechirwere ichi, iye akaratidza sei mishonga uye vatarisire mwana - izvi zvose uye tozotaura nhasi.

Chiiko ichi

Beckwith Wiedemann chirwere - ichi chinhu asi kutyora mutemo kukura. The chirwere angava akasiyana hunhu features, asi anogona kuitika uye chose segirazi. Kazhinji kunorondedzerwa externally, kana achangoberekwa azvarwa guru (macrosomia) yairema anodarika 4 makirogiramu uye kuwedzera kupfuura 56 cm. In vana vanogona kuva disproportionate uye kunyanyisa dzakasiyana-siyana dzomuviri, akadai rurimi guru (macroglossia), kana kujairika, nzeve hombe kana kwazvo chimiro chavo mavhundukiro ayo curvy pamatama uye zvichingodaro. Kunowanzoguma zviparare ari peritoneum (diastasis tsandanyama, achiine rukuvhute heniya), renal zvirwere, nendumure mavari namamota. Vangave akawedzera zvimwe zvomukati, mwoyo chirwere kuitika. Children achitambura yomuropa (ropa shoma), pfari munogona iri pahwaro. In Muzviitiko zvakaipisisa, anogona kuitika zvinouraya.

Kushurudzira upenyu

Vana ava vakasiyana vezera ravo, ivo yakakura zvikuru, yepamusoro, uye vanokurumidza kutanga mapfupa guru. Kana hosha isina akaratidza hasha, panguva yakakodzera vanokwanisa kubatsira vanachiremba uye rubatsiro rwakakwana akanga akapa - the for iwayo zvakanaka. Nokufamba kwenguva, chinhu kujairika kukura DZEMUNHU DZINODZORA sezvingatarisirwa, kukura muviri uye kukura kujaira kana baba namai. Zvakajeka zvinoratidza sei kuratidza Beckwith Wiedemann urwere, Photos uye Pictures, pazasi paro. Vari pachena kuonekwa zviratidzo chirwere: chakawedzerwa dehenya, macroglossia, achiine rukuvhute heniya mune mwana.

How kuziva

majini yokuedzwa marongedzero zvichibvira mutational kutsauka rakanyatsojeka yakaoma, asi kunogona kubatsira kuziva vanenge 80% nyaya. Vabereki vanofanira kushanyira chiremba-geneticist, ndiani dzinotarisira ndima kudzidza uye ndichapa zvakazara zano maererano wacho mhosva.

Tine mukadzi ane pamuviri kunogona kuzivisa Beckwith Wiedemann syndrome. Zvingaratidza kuva vanhu yematambudziko siyana pamuviri. Kazhinji, mari iyi yakawedzera kubva Líquido mvura vakapoteredza mudumbu, zvisinganzwisisiki refu, guru achiine rukuvhute tambo kana placenta, yekudyidzana zvinowedzera mukana rokusamhanyira pakuberekwa. Kuziva miedzo zvarakasiya kuitika panguva Ultrasound.

mabatiro

Airarama kugara kudzora hutano mwana uye zvinopa kwaari rubatsiro zvakakodzera nomumwe zviitiko. Vanofanira kuongorora zviri calcium muropa uye shuga. Nengozi namamota vanhu ava anenge 8%, zvinofanira kuyeukwa, uye kuchangotanga nokufungirana kukumbira kubatsirwa muupenyu. Zvisinei, kazhinji kacho, kurapwa ravapo vanobudirira. Adults uyo pakuberekwa akabatwa chirwere Beckwith Wiedemann urwere, inofambiswa chinzvimbo uye kunaka kwoupenyu yakasara akanaka. Havana havatamburi zvisingakoshi zvoutano uye vanotungamirira zvakazara upenyu.

Vacheche chirwere makrogloksii basa kuvhiya kupindira kugadzirisa chimiro mutauro. Uyewo, zvokurwara anogona kuva nechinetso chakakomba kana kupa mwana, kubatsira kufema kukundikana, uye mune ramangwana uye zvazvinoita kunaka kutaura. The matambudziko iwawo kugadziriswa nemunhu achiine rukuvhute heniya kana zvimwe kuchinja zvomukati. Kungada rubatsiro ane podiatrist uye Immunology.

Vana ava pakutambudzika kubatsirwa nevabereki. Dzivisa hypothermia, drafts uye vemarudzi ose zvirwere. Vana vane chirwere ichi kazhinji vane zvirwere kwokusakwana, uye nekuti chero, kunyange vanhuwo chando kungaita kuti dzakakomba matambudziko. Kuchangotanga dambudziko, tsvaka rubatsiro kubva chiremba.

Zvinoita kudzivirira

Ziva majini kuchinja okutodza kuvabereki vavo, uye naizvozvo dzinofungidzira kuzvarwa mwana pamwe chirwere unogona chete kuitwa rokutanga nemiedzo vasati kuronga pamuviri. Asi muduku mhuri shoma chaizvo kufunga nezvazvo pashure muchato. Kazhinji vanhu kuziva nezvazvo ake "kunyanya" pashure kuzvarwa mwana chete zviratidzo Beckwith Wiedemann. The mutation iri chinopfuudzwa ari autosomal kureva nhaka mhando. Kureva, kana ropa hama - rako kana wako kuti - wakange yakadaro aparadza ndiye mwanakomana kana mwanasikana mukana ngavawane chirwere "nhaka" yatovapo 50%. Zvinosuruvarisa kuti kugadzirisa dambudziko mishonga haisati zvinobvira. The chete yokugadzirisa mune izvi kungava nzira yose IVF muchangosangana.