Fragile X chirwere

Fragile X syndrome ndeye genetic mamiriro anosanganisira shanduko muchikamu che X chromosome. Iyo ndiyo yakajairika fomu yekuremara kwepfungwa muvakomana.

Fragile X syndrome inokonzerwa neshanduko mune geni inonzi FMR1. Chikamu chidiki cheiyo kodhi yegene chinodzokororwa kanoverengeka mune imwe nzvimbo yeX chromosome. Kunyanya kudzokorora, zvakanyanya kuitika kuti mamiriro acho achaitika.

Iyo FMR1 geni inogadzira protein inodiwa kuti uropi hwako hushande nemazvo. Kuremara kuri mugen'a kunoita kuti muviri wako uburitse mashoma eprotein, kana kusavapo zvachose.

Vakomana nevasikana vanogona kukanganiswa vese, asi nekuda kwekuti vakomana vane X chromosome imwe chete, kuwedzera kusimba kweX kunogona kuvakanganisa zvakanyanya. Unogona kuve usina kusimba X syndrome kunyangwe kana vabereki vako vasina.

Nhoroondo yemhuri yeX isina kusimba X syndrome, matambudziko ekusimudzira, kana hurema hwepfungwa hunogona kunge husipo.

Zvinetso zvehunhu zvine chekuita neyakaora X syndrome zvinosanganisira:

• Autism spectrum kusagadzikana
• Kunonoka kukambaira, kufamba, kana kumonyanisa
• Kubata ruoko kana kuruma ruoko
• Hyperactive kana kusagadzikana maitiro
• Urema hwekuziva
• Kutaura uye mutauro kunonoka
• Tsika yekudzivirira kusangana kwemaziso

Zviratidzo zvepanyama zvinogona kusanganisira:

• Tsoka dzakatsetseka
• Anochinjika majoini uye pasi mhasuru toni
• Saizi yakakura yemuviri
• Hhuma huru kana nzeve dzine shaya yakatanhamara
• Chiso chakareba
• Ganda rakapfava

Mamwe ematambudziko aya aripo pakuzvarwa, nepo mamwe anogona kusakura kusvika mushure mekuyaruka.

Nhengo dzemhuri dzine mashoma ekudzokorora mu FMR1 geni rinogona kunge risina hurema hwepfungwa. Vakadzi vanogona kuve nekukurumidza kuenda kumwedzi kana kunetseka kuve nepamuviri. Vese varume nevakadzi vanogona kunge vaine matambudziko nekudengenyeka uye kusabatana zvakanaka.

Kune mashoma mashoma ekunze zviratidzo zvekusasimba X syndrome muvacheche. Zvimwe zvinhu izvo mutano wezvehutano anogona kutsvaga zvinosanganisira:

• Yakakura musoro denderedzwa mumacheche
• Urema hwekuziva
• Machende akakura mushure mekutanga kwekuyaruka
• Misiyano isinganzwisisike muzvimiro zvemeso

Mumadzimai, kunyara kwakanyanyisa kunogona kunge kuri iko chete chiratidzo chechirwere.

Kuongorora genetic kunogona kuongorora chirwere ichi.

Iko hakuna chaiwo kurapwa kweasina kusimba X syndrome. Pane kudaro, kudzidziswa uye dzidzo zvakagadziridzwa kubatsira vana vakavhiringidzika kushanda padanho repamusoro soro. Zvirwere zvemakiriniki zviri kuenderera mberi (www.clinicaltrials.gov/) uye kutarisa mishonga yakati wandei yekurapa X isina kusimba.

National Fragile X Nheyo: fragilex.org/

Kuita zvakanaka kwemunhu kunoenderana nehurema hwekuremara kwepfungwa.

Zvinetso zvinosiyana, zvinoenderana nerudzi uye kuomarara kwezviratidzo. Zvinogona kusanganisira:

• Dzokororo nzeve kutapukira muvana
• Kutora chirwere

Fragile X syndrome inogona kuve chikonzero che autism kana kusangana kwakanangana, kunyangwe vasiri vese vana vane chisina kusimba X syndrome vane aya mamiriro.

Genetic counselling inogona kubatsira kana iwe uine mhuri nhoroondo yeiyi syndrome uye uri kuronga kuve nepamuviri.

Martin-Bell chirwere; Marker X chirwere

Muvhimi JE, Berry-Kravis E, Hipp H, Todd PK. FMR1 kusagadzikana. GeneReviews. 2012: 4. PMID: 20301558 pubmed.ncbi.nlm.nih.gov/20301558/. Yakagadziridzwa Mbudzi 21, 2019.

Kumar V, Abbas AK, Aster JC. Genetic uye chirwere chevana. Mune: Kumar V, Abbas AK, Aster JC, eds. Robbins Basic Pathology. 10th ed. Philadelphia, PA: Elsevier; 2018: chits. 7.

Madan-Khetarpal S, Arnold G. Matambudziko eGenetic uye mamiriro edysmorphic. Mune: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli naDavis 'Atlas yePediatric Panyama Kuongorora. 7th ed. Philadelphia, PA: Elsevier; 2018: chits. 1.