Williams chirwere

Williams syndrome chirwere chisingawanzo chinogona kukonzera matambudziko nekukura.

Williams syndrome inokonzerwa nekushaya kopi yemageneti makumi maviri neshanu nemanomwe pane chromosome nhamba yechinomwe.

• Muzviitiko zvakawanda, jeni rinochinja (shanduko) rinoitika roga, kungava muhurume kana zai rinokura kubva kumwana.
• Nekudaro, kana mumwe munhu akatakura shanduko yemavara, vana vavo vane mukana we50% wekugara nhaka.

Imwe yemajini asipo izita rinogadzira elastin. Iyi ipuroteni inobvumira tsinga dzeropa uye zvimwe zvinyama mumuviri kutambanudza. Zvichida kushaikwa kopi yeiyi geni kunoguma nekudzikira kwetsinga dzeropa, ganda rinotambanuka, uye majoini anoshanduka anoonekwa mune ino mamiriro

Zviratidzo zveWilliam syndrome ndezvi:

• Matambudziko ekudyisa, kusanganisira colic, Reflux, uye kurutsa
• Mukati kukotama kwemunwe mudiki
  
• Sunken chest
• Chirwere chemwoyo kana matambudziko emidziyo yeropa
  
• Kukura kunonoka, hunyoro kusvika pakati nepakati hurema hurema, kudzidza kusagadzikana
• Kunonoka kutaura uko kunogona kuzochinja kuve kugona kwakasimba kwekutaura uye kudzidza kwakasimba nekunzwa
  
• Zvinotsauswa zviri nyore, kucherechedza kushomeka kwehutano kusagadzikana (ADHD)
• Hunhu hunhu hunosanganisira kuve nehushamwari, kuvimba nevasingazive, kutya ruzha rukuru kana kubata panyama, uye kufarira mimhanzi
• Ipfupi, ichienzaniswa neimwe mhuri yemunhu

Chiso nemuromo wemumwe munhu ane Williams syndrome zvinogona kuratidza:

• Bhiriji rakapetwa remhino rine mhino diki rakasimudzwa
• Mirefu yakareba muganda inomhanya kubva pamhino kusvika pamuromo wepamusoro
• Yakakurumbira miromo ine yakashama muromo
• Ganda rinovhara kona yemukati yeziso
• Chikamu chakashayikwa mazino, akaremara mazino enamel, kana madiki, mazino akapararira

Zviratidzo zvinosanganisira:

• Kuderedza kweimwe tsinga dzeropa
• Kufanoona zviri kure
• Matambudziko emazino, senge mazino akapatsanurwa zvakanyanya
• Yakakwira ropa calcium calcium iyo inogona kukonzera kugwinha uye kuomarara mhasuru
• Kuwedzera kweropa
• Akasununguka majoini anogona kuchinjika kuomarara sezvo munhu achikura
• Unusual nyeredzi-senge pateni mune iris yeziso

Miedzo yeWilliam syndrome inosanganisira:

• Kuongorora kweropa
• Ropa bvunzo yechikamu chisipo che chromosome 7 (FISH bvunzo)
• Weti uye kuongororwa kweropa kwecalcium level
• Echocardiography inosanganiswa neDoppler ultrasound
• Itsvo Ultrasound

Iko hakuna mushonga weWilliams syndrome. Dzivisa kutora yakawedzera calcium uye vhitamini D. Rapa yakakwira ropa calcium kana ikaitika. Ropa remidzi kudzikira kunogona kuve dambudziko rakakura rehutano. Kurapa kunoenderana nekuti kwakanyanya sei.

Kurapa kwemuviri kunobatsira kune vanhu vane kuomarara kwemajoini. Kuvandudza uye kutaura kwekutaura kunogona kubatsira. Semuenzaniso, kuva nehunyanzvi hwekutaura kwakasimba kunogona kubatsira kutsiva kumwe kuneta. Mamwe marapirwo anoenderana nezviratidzo zvemunhu.

Inogona kubatsira kuve nekurapwa kwakarongedzwa neye geneticist uyo ane ruzivo neWilliam syndrome.

Boka rekutsigira rinogona kubatsira kutsigira mweya uye nekupa nekugamuchira mazano anoshanda. Sangano rinotevera rinopa rumwe ruzivo nezve Williams syndrome:

Williams Syndrome Association - williams-syndrome.org

Vanhu vazhinji vane Williams syndrome:

• Iva nehurema hwepfungwa.
• Handirarame kwenguva yakareba seyakajairwa nekuda kwenyaya dzakasiyana dzekurapa uye zvimwe zvinokanganisa.
• Inoda vachengeti venguva yakazara uye vanowanzo gara mudzimba dzeboka rinotarisirwa.

Zvinetso zvinogona kusanganisira:

• Calcium inoisa mune itsvo uye mamwe matambudziko eitsvo
• Rufu (mune zvisingawanzoitika zviitiko kubva kuanesthesia)
• Kukundikana kwemoyo nekuda kwekutetepa kweropa
• Marwadzo mudumbu

Zvizhinji zvezviratidzo nezviratidzo zveWilliam syndrome zvinogona kunge zvisingaonekwe pakuzvarwa. Fonera wako mupi wezvehutano kana mwana wako aine maficha akafanana neaya eWilliam syndrome. Tsvaga zano rekuberekwa kana uine nhoroondo yemhuri yeWilliam syndrome.

Iko hakuna inozivikanwa nzira yekudzivirira iyo geneti dambudziko rinokonzera Williams syndrome. Kuongororwa kwepamuviri kunowanikwa kune vakaroorana vane nhoroondo yemhuri yeWilliam syndrome vanoshuva kubata pamuviri.

Williams-Beuren chirwere; WBS; Beuren chirwere; 7q11.23 kubvisa chirwere; Elfin facies chirwere

• Yakadzika mhino bhiriji
• Chromosomes uye DNA

Morris CA. Williams chirwere. Mu: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews. Yunivhesiti yeWashington, Seattle, WA. www.bhan.nlm.nih.gov/books/NBK1249. Yakagadziridzwa Kurume 23, 2017. Yakasvika munaNovember 5, 2019.

NLM Genetics Imba Referensi webhusaiti. Williams chirwere. ghr.nlm.nih.gov/condition/williams-syndrome. Yakagadziridzwa Zvita 2014. Yakasvika munaNovember 5, 2019.