Fragile X syndrome: ndi chiyani, mawonekedwe ndi chithandizo

Zamkati

• Zinthu zazikuluzikulu za matendawa
• Momwe matendawa amapangidwira
• Momwe mankhwalawa amachitikira

Fragile X syndrome ndi matenda amtundu omwe amapezeka chifukwa cha kusintha kwa X chromosome, zomwe zimapangitsa kuti pakhale kubwereza kangapo motsata kwa CGG.

Chifukwa chakuti ali ndi X chromosome imodzi yokha, anyamata amakhudzidwa kwambiri ndi vutoli, akuwonetsa zizindikilo monga nkhope yayitali, makutu akulu, komanso machitidwe ofanana ndi autism. Kusintha kumeneku kumatha kuchitikanso kwa atsikana, komabe zizindikilozo ndizovuta kwambiri, chifukwa popeza ali ndi ma chromosomes awiri a X, chromosome yabwinobwino imalipira vuto la winayo.

Kupezeka kwa matenda osalimba a X ndikovuta, popeza zizindikilo zambiri sizodziwika kwenikweni, koma ngati pali mbiri yabanja, ndikofunikira kuchita upangiri wa majini kuti muwone ngati matendawa angachitike. Mvetsetsani kuti upangiri wa majini ndi chiyani komanso momwe umachitikira.

Zinthu zazikuluzikulu za matendawa

Matenda a Fragile X amadziwika bwino ndi zovuta zamakhalidwe komanso kuwonongeka kwa nzeru, makamaka kwa anyamata, ndipo pakhoza kukhala zovuta pakuphunzira ndi kuyankhula. Kuphatikiza apo, palinso mawonekedwe amthupi, omwe akuphatikizapo:

• Kutalika nkhope;
• Makutu akulu, otuluka;
• Chibwano chotuluka;
• Kutsika kwa minofu;
• Lathyathyathya mapazi;
• Kutsekemera kwapamwamba;
• Khola limodzi lamanja;
• Strabismus kapena myopia;
• Scoliosis.

Zambiri zomwe zimakhudzana ndi matendawa zimawonedwa kuyambira paunyamata. Kwa anyamata zimakhalabe zofala kukhala ndi chikumbu chokulitsidwa, pomwe azimayi amatha kukhala ndi vuto la kubereka komanso kulephera kwamchiberekero.

Momwe matendawa amapangidwira

Kupezeka kwa matenda osalimba a X kumatha kupangidwa ndimayeso am'magulu ndi ma chromosomal, kuti azindikire kusintha, kuchuluka kwa magawo a CGG ndi mawonekedwe a chromosome. Mayesowa nthawi zambiri amachitika ndi magazi, malovu, tsitsi kapena amniotic fluid, ngati makolo akufuna kutsimikizira kupezeka kwa matendawa panthawi yapakati.

Momwe mankhwalawa amachitikira

Chithandizo cha matenda a X osalimba chimachitika makamaka kudzera pamankhwala, machitidwe amthupi ndipo, ngati kuli kofunikira, opaleshoni kuti athetse kusintha kwakuthupi.

Anthu omwe ali ndi mbiri yofooka X syndrome m'banja ayenera kufunafuna upangiri wa majini kuti athe kupeza mwayi wokhala ndi ana omwe ali ndi matendawa. Amuna ali ndi XY karyotype, ndipo ngati angakhudzidwe amatha kufalitsa matendawa kwa ana awo aakazi okha, osati kwa ana awo, popeza kuti jini yomwe anyamata amalandila ndi Y, ndipo izi sizikusintha zokhudzana ndi matendawa.