Meckel-Gruber syndrome - inozivikanwawo se dysencephalia splanchnocystica, Meckel syndrome, uye Gruber syndrome - inorwarisa zvirwere zvinokonzera kukanganisa kwakakura kwepanyama. Nemhaka yezviremera zvakakomba, avo vane Meckel syndrome vanowanzofa vasati vazvarwa kana nguva pfupi mushure mekuberekwa.
Genetic Mutations
Meckel syndrome inosanganiswa nekushanduka kwemukati mune rimwe remagetsi masere.
Kuchinja mumiri mumakemikari aya emasere masere kune anenge 75 muzana yeMeckel-Gruber mhaka. Imwe 25 muzana inokonzerwa nekuchinja kwezvinhu zvisati zvamboonekwa.
Kuti mwana ave neMeckel-Gruber syndrome, vose vabereki vanofanira kutakura makopi ekusaremera geni. Kana vabereki vose vakatakura chirwere chisina kukwana, pane 25 muzana yemukana mwana wavo achava nemamiriro acho ezvinhu. Pane chine chikamu chemazana makumi mashanu kubva muzana chekuti mwana wavo achagara nhaka imwe yejeni. Kana mwana wacho achiwana imwe yeropa, ivo vachave vatakuri vemamiriro acho ezvinhu. Havazove nemamiriro avo pachavo.
Kuwanda
Nhamba yehuwandu hweMeckel-Gruber syndrome yakasiyana kubva pa1 kubva 13,250 kusvika kune 1 mu 140,000 kuberekwa kurarama. Kutsvakurudza kwakawana kuti vamwe vanhu, kufanana nevaya vanobva kuFinland (1 muvanhu 9 000) uye madzitateguru eBelgium (inenge 1 muvanhu 3 000), vanogona kunge vakanganiswa. Mimwe mitengo yakakwirira yakawanikwa pakati pevaBedouin muKwaiti (1 mu3 500) uye pakati pevaIndia vokuGujarati (1 mu1 300).
Vanhu ava vanewo huwandu hwakatakura huwandu, uye chero kupi zvako kubva kuna 1 mu50 kusvika kune 1 mu18 vanhu vanotakura kopi yezvisikwa zvakashata. Pasinei nehuwandu hwehuwandu hwehuwandu hwematongerwo enyika, mamiriro ezvinhu anogona kukanganisa chero rudzi rwemadzinza, pamwe chete nevanhurume vose.
Zviratidzo
Meckel-Gruber syndrome inonyatsozivikanwa nekukonzera kukanganisika kwenyama, kusanganisira:
- Imwe nzvimbo yakatarisa mberi kwepafu (fontanel), iyo inobvumira zvimwe zveuropi nemumumvuri wemupopu kuti zvikure (encephalocele)
- Heart defects
- Tsitsi dzakakura dzizere ne-cysts (polycystic itsvo)
- Zvimwe zvigunwe kana zvigunwe ( polydactyly )
- Kuchengeta chiropa (chiropa fibrosis)
- Kukwana kukakwana kwemapapu (pulmonary hypoplasia)
- Cleft lip uye cleft palate
- Kuita zvinhu zvisina kukodzera
Idzo mazino ndiyo chiratidzo chinowanzoonekwa, inoteverwa nehuwandu. Zvizhinji zveMeckel-Gruber zvinouraya zvinokonzerwa ne pulmonary hypoplasia, isina kukwana mapapu.
Kuziva
Vana vacheche neMeckel-Gruber syndrome vanogona kuonekwa zvichienderana nekuonekwa kwavo pakuberekwa, kana ne ultrasound vasati vaberekwa. Zviitiko zvakawanda zvinowanikwa kuburikidza ne ultrasound zvinowanikwa mune yechipiri chemitare. Zvisinei, nyanzvi yeyanyanzvi anogona kukwanisa kuziva mamiriro acho ezvinhu munguva yekutanga chegumi. Kugadziriswa kwechromosome, zvichienderana nechirionic villus sampling kana amniocentesis, inogona kuitwa kutonga kunze kweTrisomy 13 , inenge yakafanana nechirwere chinouraya ine zviratidzo zvakafanana.
Kurapa
Zvinosuruvarisa, hapana mushonga weMeckel-Gruber syndrome nokuti mapapu asina mwana akafuridzirwa uye mafungiro asina kufanira haakwanise kutsigira upenyu. Mamiriro acho ane 100 muzana yekufa kwehuwandu mumazuva ekuberekwa.
Kana Meckel-Gruber syndrome inowanikwa panguva yekuzvitakura, dzimwe mhuri dzinogona kusarudza kugumisa kuberekwa.
Sources:
Carter, SM (2015). Meckel-Gruber syndrome. eMedicine.
NIH Genetics Home Reference. Meckel Syndrome (2016)