Dambudziko Rakaberekwa Rine Chero Nzvimbo Dzose Dzinodanwa 100
Seckel syndrome iyo inowanikwa nhaka yakawanda yekare, zvichireva kuti kacheche inotangira zvishoma uye inokundikana kukura kazhinji mushure mokuberekwa. Apo vanhu vane Seckel syndrome vachawanzove vakaenzana nehuwandu, vachave nehukuru hwemafudzi makuru. Kuora mwoyo kwepfungwa kunowanzoshamisa.
Pasinei nenyaya dzakawanda dzemuviri uye dzepfungwa zvinotarisana nemunhu ane Seckel syndrome, vazhinji vave vachizivikanwa kuti vanorarama zvakanaka kwemakore makumi mashanu.
Zvinokonzera Seckel Syndrome
Seckel syndrome inowana nhaka yehutano yakabatanidzwa nemafungiro emararamiro pane imwe yemakromosomes matatu akasiyana. Inofungidzirwa isingadikanwi ine nhamba dzinopfuura zana dzakataurwa kubva muna 1960. Vana vakawanda vakawanikwa vane Seckel syndrome vakaberekerwa nevabereki vane ukama hwepedyo (consanguineous), sekune vakoma vekutanga kana vanin'ina.
Seckel syndrome ndiyo inokonzera kushandiswa kwema genetic, zvichireva kuti inowanikwa chete apo mwana anowana nhaka imwe chete isina kuwanikwa kubva kumubereki mumwe nomumwe. Kana mwana wacho achiwana rimwe jena rejena uye rimwe jeni risingawanzoitiki, mwana achava mutakuri wehutano asi haawanzoratidzi zviratidzo.
Kana vabereki vose vane chromosomal mutation imwechete ye Seckel syndrome, dambudziko ravo rokuva nemwana ane Seckel syndrome ndeye 25 muzana, asi mukana wekutakura anenge 50 muzana.
Zviratidzo zveSeckel Syndrome
Seckel syndrome inoratidzika nenzira isinganzwisisiki kutora kufambira mberi uye kuberekwa kunorema.
Mushure mokuberekwa, mwana achaona kukura kunononoka uye kuputika kwemapfupa kunokonzerwa nehupfupi asi huwandu hwechimiro (zvisingapesana nechembera-dwarfism, kana achondroplasia). Vanhu vane Seckel syndrome vane zviratidzo zvakasiyana uye zvekuvandudza, kusanganisira:
- Uwandu hwakakura uye uremu pakuberekwa (chiyero 3.3 pounds)
- Kunyanya kuduku, chiyero chakaenzana
- Zvisinganzwisisiki zviduku zvishoma (microcephaly)
- Kuburitsa-kufanana-kunamatira kwemhino
- Narrow face
- Nzeve dzisina kunaka
- Tambo duku zvisiri zvishoma (micrognathia)
- Kuchengetedza kwepfungwa, kazhinji kwakaoma neIQ kudarika makumi mashanu
Zvimwe zviratidzo zvinogona kusanganisira maziso akakura zvakashata, marate yakakwirira, mazino, uye mamwe mafupa. Dambudziko reRopa rakadai seanemia (masero matsvuku eropa), pancytopenia (kwete masero eropa rakakwana), kana kuti muteyi myeloid leukemia (rudzi rwekenza yeropa) inowanzoonekwa.
Mune zvimwe zviitiko, zviyero mumarume zvinokundikana kuburukira mukati, kana vakadzi vangave vane clitoris isina kukwana. Mukuwedzera, vanhu vane Seckel syndrome vanogona kuva nevhudzi bvudzi rakawandisa uye imwe chete, yakadzika yakadzika kumativi ose emichindwe emaoko avo (inozivikanwa sekuti simian crease).
Kuongororwa kweSeckel Syndrome
Kuziva kweSeckel syndrome kunowanikwa zvakangoita zviratidzo zvemuviri. X-rays nezvimwewo kufungidzira zvishandiso ( MRI , CT scan ) zvinogona kudiwa kuti zvisiyanise kubva kune dzimwe mamiriro akafanana. Iko parizvino hapana labhi kana mazita ekugadzirisa zvirwere zvakakwana kuSeckel syndrome. Mune zvimwe zviitiko, kugadziriswa kwekujekesa hakugoni kuitwa kusvikira mwana akura uye zviratidzo zvomuitiro zvinooneka.
Kurapa uye Kutungamirirwa kweSeckel Syndrome
Kurapa kweSecel syndrome kunongororwa chero dambudziko rehutano rinogona kubuda, kunyanya kukanganiswa kweropa uye maitiro akaoma. Kunyatsopikisa vanhu nemhuri dzavo vachada kupiwa rubatsiro rwakanaka rwemagariro evanhu uye mazano ekupa mazano.
Sources:
> Al-Dosari, M .; Shaheen, R .; Colak, D. uye al. "Novel CENPJ kuchinja kunokonzera Seckel syndrome." J Med Genet . 2010; 47: 411-4.
> Hennekam, R .; Allanson, J .; uye Krantz, I. (2011) "Zvishoma nezvishoma mashizha syndromes." Gorlin's Syndromes weMusoro uye Neck . Oxford, England: Oxford University Press: 440-80.