Kazhinji ruzivo rwemakemikari hunokonzera kukanganisa kwepanyama uye kwepfungwa
Wolf-Hirschhorn syndrome inorwarisa zvirwere zvinogona kukonzera kukanganisa kuberekwa uye zvinetso zvekusimudzira. Zvinokonzera maitiro akasiyana-siyana, maitiro mashomanana, kukanganisa kwepfungwa, uye kusagadzikana kwezvikamu zvakati zvomuviri. Icho chinhu chisingawanzoitiki uye inofungidzirwa kuti inowanikwa mune imwechete mumakore 50 000 ekuberekwa.
Wolf-Hirschhorn chirwere chinokonzerwa nekukanganisa kwakajeka pane chikamu chejeni rinozivikanwa se chromosome 4p.
Muzviitiko zvakawanda, izvi hazvirevi dambudziko rekuberekwa kwechizvarwa asi asi kuchinja kunoitika kamwe chete. Zvechokwadi, muna 87 kubva muzana yevanhu vanonetseka neWolf-Hirschhorn syndrome, hapana nhoroondo yemhuri yehutano.
Kunyange zvazvo Wolf-Hirschhorn chirwere chinogona kuitika kune vanhu vemarudzi ose kana rudzi, kazhinji vakadzi vakawanda vanobatwa sevarume.
Zviratidzo zveWolf-Hirschhorn Syndrome
Wolf-Hirschhorn syndrome inokonzera kusagadzikana muzvikamu zvakawanda zvemuviri nokuti maitiro ekuberekwa anoitika panguva yekukura kwekurera.
Chimwe chezviratidzo zvinowanikwa kune izvozvi zvinorondedzerwa se "chiGiriki chishongo chemaoko" maziso. Izvo pamwe chete zvinosanganisira pfumbu yakakurumbira, maziso akavharidzirwa, uye pfumbu yakakura. Dzimwe zviratidzo zvinogona kusanganisira:
- Kunyanya kukanganisa pfungwa
- Musoro muduku
- Cleft palate
- Nguva shoma shoma
- Kuora kwemaoko, tsoka, chifuva, uye musana
- Kuderera kwemazwi uye hurombo husina kusimba
- Creases kumativi ose emichindwe anonzi "simian creases"
- Kushungurudzika kana kusagadzikana kwezvikadzi zvemuviri uye urinary tract
- Kukanganisika (kunoitika munenge makapoteredza 50 muzana yevanhu vanobatwa)
- Zvinonyanya kukanganisa mwoyo, kunyanya kuyanana neal-septal defect (inowanzozivikanwa se "gomba mumoyo"), ventricular septal defect (inoratidzirwa yehukama pakati pemakamuri ezasi emoyo), uye p ulmonic stenosis (kudzivisa kuderera kubva mwoyo kusvika pamapurmonary arteri)
Kuongororwa kweWolf-Hirschhorn Syndrome
Wolf-Hirschhorn syndrome inogona kuongororwa ne ultrasound apo mwana achiri muchibereko kana nekuonekwa mushure mokuberekwa. Izvo zviso zvakasiyana-siyana zvinowanikwa zvinowanzova chirevo chekutanga chekuti mwana ane chirwere. Kuongorora zvirwere kunogona kusimbisa kuongororwa.
Kana Wolf-Hirschhorn inofungidzirwa panguva yepamuviri, genetic test inogonawo kuitwa pamwe nekuedzwa kwakanyanyisa kunonzi " fluorescent in situ hybridization" (FISH) ine 95 muzana yakarurama mukusimbisa chirwere.
Miedzo yokuwedzera, yakadai se-X-rays kuti iongorore bone uye mukati mekusawirirana, renal ultrasonography kuti iongorore itsvo, uye magnetic resonance imaging (MRI) yeuropi inogona kubatsira kuziva huwandu hwezviratidzo izvo mwana angatarisana nazvo.
Kurapa kweWolf-Hirschhorn Syndrome
Sezvo pasina hurapi huripo yekugadzirisa kukanganisa kuberekwa kana yaitika, kurapwa kweWolf-Hirschhorn syndrome inotarisa pakatarisa zviratidzo zvakasiyana-siyana. Izvi zvinogona kusanganisira mishonga yekurapa kugunun'una, chirwere chepanyama uye chebasa kuitira kuchengeta musikana uye kubatana kwekubatana, uye kuvhiyiwa kugadzirisa sangano risina kunaka.
Kunyange zvazvo pasina nzira yekuderedza matambudziko mhuri inogona kutarisana nayo kana inotarisana neWolf-Hirschhorn syndrome, zvinokoshawo kuyeuka kuti hapana nzira yakagadzirirwa yehutano.
Vamwe vana vakaberekerwa naWolf-Hirschhorn vangave vane mashoma, kana aripo, matambudziko makuru ehutano uye vanorarama zvakanaka kuva vanhu vakuru. Kuoma kwehutano hwepfungwa kunogonawo kusiyanisa zvikuru. Sezvo zvakadaro, chiyero chekurarama kwemwana weWolf-Hirschhorn hachizivikanwe chete nokuti kuoma uye zviratidzo zvechirwere zvakasiyana zvakasiyana.
Kuti zviri nani kukunda matambudziko ekurera mwana neWolf-Hirschhorn syndrome, zvakakosha kusvika kune mapoka ekuburikidza anokwanisa kupa vadzidzisi vekutumira, ruzivo rwepamusoro-ruzivo, uye rubatsiro rwemweya unoda. Izvi zvinosanganisira Chromosome Disorder Outreach boka Boca Raton, Florida uye 4P Support Group muSunbury, Ohio.
> Kwakabva:
> Battaglia, A .; Carey, J .; South, S ;; uye Wright, T. (2015) "Wolf-Hirschhorn Syndrome." GeneReviews . Pagon, R .; Adhamu, M .; Ardinger, h. et al. (eds). Seattle, Washington: University of Washington, Seattle.