Chii chinonzi Kleefstra Syndrome?

Kleefstra Syndrome iri chirwere chemajini chinokonzerwa nekusajairika mune geniKunyangwe muzviitiko zvisingawanzoitika shanduko inogona kuitika. Chirwere ichi chinogona kukanganisa mativi mazhinji uye nhengo dzemuviri, senge microcephaly, hunhu kumeso maficha, hypotonia, kushomeka kwehungwaru kana maficha e autism, pakati pemamwe mamiriro mazhinji. Ichi chirwere chisingawanzo chinobata vana vashoma kwazvo pasirese, muchokwadi, kesi dzinopfuurisa mazana maviri.

Nhasi Nyamavhuvhu 17 izuva repasi rose reKleefstra Syndrome, chirwere chisingawanzo uye pamwe nekuda kwechikonzero ichocho, chisinganyanyo kuzivikanwa. Ita kuti chirwere ichi chionekwe kusimudzira hupenyu hwevanhu vanotambura nazvo, ndicho chinangwa chikuru chekupemberera zuva iri. Nekuti kuferefetwa kwechirwere ndicho chinhu chikuru pakurapwa kwechirwere ichi, chisingarapike uye nechimiro chakaomarara cheupenyu.

Kleefstra Syndrome

Muviri wemunhu une makumi maviri nemaviri echromosomes, makumi maviri nemaviri acho autosomal uye rimwechete ma chromosomes ebonde. Mubereki wega wega anopa chromosome kubva kune yayo autosomal uye vaviri vaviri bonde, kuitira kuti vana, tora hafu yemakromosomes kubva kuna baba vavo uye imwe hafu kuna amai vavo. Kleefstra Syndrome inokonzerwa nekusajairika mune rimwe remakromosomes makumi mana nemana ane muviri mumasero ayo.

Zvakaipa zviviri zvinogona kuitika mukromosome yakakanganiswa, kazhinji chikamu chemajini chinoshaikwa. Muzviitiko zvisingawanzoitika, iyo chromosome inogona kuchinja, kunyange isiri iyo inowanzoitika. Muchokwadi, Kleefstra Syndrome inozivikanwa zvakare se "9q subtelomeric deletion syndrome" nekuti chromosome ine kubviswa (kurasikirwa kwemajini zvinhu). Kuomarara kwechirwere kunogona kuve kwakasiyana kwazvo muchiitiko chega chega, nekuti icho chinofambidzana nehuwandu hwemagene kana shanduko inotambura nekromosome.

Kazhinji maficha

Kleefstra Syndrome inogona kuburitsa akati wandei ezviratidzo zvakasiyana kana hunhu, kunyangwe mamwe acho akajairika, semuenzaniso:

• Kunonoka budiriro.
• Hunhu hunhu kumeso izvo zvinomesa nekufamba kwenguva, senge tsiye hombe, muromo wakakora wezasi, rurimi rwakakurumbira, kufungidzira kana kuremara mushaya kana microcephaly, pakati pevamwe.
• Kudzidza matambudziko.
• Hypotonia kana yakaderera mhasuru toni, izvo zvinoita kuti mucheche aite kunge akarembera, asina simba rekutsigira muviri wake.
• Kubatwa.
• Chirwere chemoyo kuberekwa.
• Maitiro ehutano.
• Kusagadzikana kwepabonde, kunyanya kana iri nyaya yevana.
• Kurara kusagadzikana.
• Matambudziko eziso, kazhinji tsinzinya.
• Chaizvoizvo maficha e Autism chakarongeka kusagadzikana.

También existen zvimwe zvisingawanzo kuitika maficha, sei:

• Kufutisa.
• Kusagadzikana kwemazino.
• Zvimwe zvakasarudzika pamaoko kana tsoka, senge minwe mipfupi, tsoka dzisina kumira zvakanaka, pakati pevamwe.
• Itsvo kusagadzikana.
• Anal atresia, Izvi zvinoreva kuti hapana chakajairika kuvhurwa kweiyo anus.

Kurapa kweKleefstra Syndrome

Hakuchina mushonga wechirwere ichi, nekuti chinogadzirwa nekuchinja kwemajini. Kurapa kwevana vane Kleefstra syndrome kunosanganisira timu yemhando dzakasiyana-siyana inoenderana nehunhu uye zvinodiwa nemwana wega wega. Iyo yekurapa inowanzo kuve nehunyanzvi hunowanikwa nevarwere vane hurema hwepfungwa, kurapa kwekushanda, Therapist Therapist, physiotherapist kana sensory yekubatanidza kurapa, pakati pevamwe.

Uye zvakare, mune zviitiko apo paine matambudziko eitsvo, chirwere chemwoyo uye mamwe matambudziko senge kunzwa, mwana anofanirwa kunge ari kurapwa nehunyanzvi mune yega yeaya nzvimbo. Naizvozvo, kurapwa kunogona kuve kwakasiyana kwazvo muchiitiko chega chega, nekuti vana vese havana hunhu kana zviratidzo zvakafanana. Sezvo mwana anokura, zviratidzo zvitsva zvichave pachena izvo zvinofanirwa kurapwa nenzira kwayo.

Kunyangwe murwere ane Kleefstra Syndrome achifanirwa kurapwa kweupenyu hwese, hachisi chirwere chinouraya. Mune mamwe mazwi, iyo chirwere pachayo haiise hupenyu hwemwana panjodzi, asi mamwe maitiro ayo anogona kuve akakomba mune dzimwe nguva, sezvinoitika kuvana vane chirwere chepfungwa chepfungwa.