Fragile X syndrome: chii icho, hunhu uye kurapwa

Zvemukati

• Zvinonyanya kukosha zvechirwere
• Maitiro ekuongororwa kunoitwa
• Kurapwa kunoitwa sei

Fragile X syndrome chirwere chemajini chinowanzoitika nekuda kwekuchinja mune X chromosome, zvichitungamira mukuitika kwekudzokorora kwakawanda kwekuteedzana kweCGG.

Nekuti ivo vanongova neX chromosome imwe chete, vakomana vanonyanya kubatwa neichi chirwere, vachiratidza zviratidzo zvakaita sechiso chakareba, nzeve dzakakura, pamwe nehunhu hwekuzvibata hwakafanana newa autism. Iyi shanduko inogona kuitikawo muvasikana, zvisinei zviratidzo nezviratidzo zvakanyanyisa, nekuti sezvo vaine maX chromosomes maviri, echromosome yakajairwa inobhadhara kukanganisika kweimwe.

Kuongororwa kwechirwere cheX chisina kusimba kwakaoma, sezvo zviratidzo zvizhinji zvisina kunyatsojeka, asi kana paine nhoroondo yemhuri, zvakakosha kuita kuraira kwemajini kutarisa mikana yechirwere ichi kuitika. Nzwisisa chinonzi kurairiswa kwemajini uye kuti kunoitwa sei.

Zvinonyanya kukosha zvechirwere

Fragile X syndrome inoratidzirwa zvakanyanya nehunhu hwehunhu uye hurema hwehungwaru, kunyanya muvakomana, uye panogona kuve nematambudziko mukudzidza nekutaura. Uye zvakare, kune zvekare hunhu hunhu, uhwo hunosanganisira:

• Yakatambanudzwa kumeso;
• Nzeve huru, dzakabuda;
• Kubuda chirebvu;
• Yakaderera mhasuru toni;
• Tsoka dzakatsetseka;
• Mukanwa wakakwirira;
• Shanga imwe yemichindwe;
• Strabismus kana myopia;
• Scoliosis.

Mazhinji maficha ane chekuita nechirwere anongoonekwa kubva pakuyaruka. Muvakomana zvichiri zvakajairika kuva nechitende chakawedzerwa, nepo vakadzi vanogona kunge vaine matambudziko nekubereka uye kutadza kweovari.

Maitiro ekuongororwa kunoitwa

Kuongororwa kweiyo isina kusimba X syndrome inogona kuitwa nemamorekuru uye chromosomal bvunzo, kuti uone shanduko, huwandu hweCGG kuteedzana uye hunhu hwechromosome. Iyi bvunzo inowanzoitwa pamwe neropa sampuro, mate, vhudzi kana kunyange amniotic fluid, kana vabereki vachida kuratidza kuvapo kwechirwere panguva yekuzvitakura.

Kurapwa kunoitwa sei

Kurapa kwechirwere cheX chisina kusimba kunonyanya kuburikidza nehutano hwekuzvibata, kurapwa kwepanyama uye, kana zvichidikanwa, kuvhiyiwa kugadzirisa shanduko yemuviri.

Vanhu vane nhoroondo yeX isina kusimba syndrome mumhuri vanofanirwa kutsvaga kurairwa kwemajini kuti vawane mukana wekuve nevana vane chirwere ichi. Varume vane XY karyotype, uye kana vakabatwa vanokwanisa kuendesa chirwere kuvanasikana vavo chete, kwete kuvana vavo, nekuti geni rinogamuchirwa nevakomana ndiY, uye izvi hazviratidze shanduko inoenderana nechirwere.