Achondroplasia chaiyo imhando yakakosha yechondrodyplasia, ingave iri nzira yekutetepa uye / kana kureba kwemakumbo. Ichi chirwere chinoratidzwa ne:

- rhizomelia: iyo inokanganisa mudzi wemakumbo, kana chidya kana maoko;

- hyper-lordosis: kukwidziridzwa kwedorsal curvatures;

- brachydactyly: saizi diki isina kujairika ye phalanges yeminwe uye / kana zvigunwe;

- macrocephaly: saizi yakakura zvisingaite yecranial perimeter;

- hypoplasia: kunonoka kukura kwetishu uye / kana nhengo.

Ethnologically, achondroplasia zvinoreva "pasina kuumbwa kwekatekete". Cartilage iyi inyama yakaoma asi inochinjika ichiita chikamu chekuumbwa kweskeleton. Zvakadaro, mune iyi pathology, haisi nyaya yekuumbwa kwakashata pamwero wecartilage asi yedambudziko muossification (kuumbwa kwemapfupa). Izvi zvinoshanda zvakanyanya kumapfupa akareba, akadai semaoko nemakumbo.

Zvidzidzo zvakabatwa neachondroplasia zvinopupurira kuvakwa kudiki. Avhareji urefu hwemurume ane achondroplasia ndeye 1,31 m uye iyo yemukadzi anorwara ndeye 1,24 m.

Izvo zvakasiyana-siyana zvechirwere zvinoguma nehukuru hukuru hwehunde, asi hushoma hushoma hwemaoko nemakumbo. Sezvineiwo, macrocephaly inowanzobatanidzwa, iyo inotsanangurwa nekuwedzera kweiyo cranial perimeter, kunyanya yehuma. Zvigunwe zvevarwere ava zvinowanzova zvidiki nekusiyana kunoonekwa kwemunwe wepakati, zvichikonzera chimiro cheruoko rwetatu.

Pane zvimwe zvinetso zvehutano zvinogona kusanganiswa ne achondroplasia. Izvi zvinonyanya kuitika pakutadza kufema zvakanaka nekufema kunoonekwa kunonokerwa nekufamba kwenguva nenguva yekufema. Mukuwedzera, kufutisa uye zvirwere zvenzeve zvinowanzobatanidzwa nechirwere. Zvinetso zvepashure zvinoonekwa zvakare (hyper-lordosis).

Zvinetso zvinogoneka zvinogona kumuka, senge spinal stenosis, kana kutetepa kwepinal canal. Izvi zvinoguma nekutsikirirwa kwepinal cord. Izvi zvinetso zvinowanzova zviratidzo zvekurwadziwa, kushaya simba mumakumbo uye kurira kwekunzwa.

Muchikamu chiduku, kuonekwa kwehydrocephalus (yakaoma neurological abnormality) inogoneka. (2)

Icho chirwere chisingawanzoitiki, kupararira kweiyo (nhamba yezviitiko muhuwandu hwakapiwa panguva yakatarwa) ndeye 1 mu15 kuberekwa. (000)

Makiriniki ekuratidzwa kwe achondroplasia anoratidzwa pakuzvarwa ne:

- hukuru husina kujairika hwemakumbo ane rhizomelia (kukuvadza kumidzi yemakumbo);

- hukuru husingaenzaniswi hwehunde;

- saizi yakakura zvisingaite yecranial perimeter: macrocephaly;

- hypoplasia: kunonoka kukura kwetishu uye / kana nhengo.

Kunonoka muhunyanzvi hwemotokari kwakakoshawo kweiyo pathology.

Mimwe migumisiro inogona kubatanidzwa, yakadai sehope yekurara, zvirwere zvenzeve zvinowanzoitika, zvinetso zvekunzwa, kupindirana kwemazino, thoracolumbar kyphosis (deformation of the spine).

Muzviitiko zvakakomba zvechirwere, kudzvinyirirwa kwemutsipa wepelinha kunogona kuenderana nazvo zvichikonzera mamiriro ekufema, kunonoka mukukura uye zviratidzo zvepiramidi (zvose zvinokanganisa unyanzvi hwemotokari). Uye zvakare, hydrocephalus zvakare inonzwisisika inotungamira kukushomeka kwetsinga uye chirwere chemoyo.

Vanhu vane chirwere ichi vane hurefu hwepakati hwe1,31 m kuvarume uye 1,24 m kuvakadzi.

Mukuwedzera, kufutisa kunowanikwa zvakanyanya muvarwere ava. (1)

Kwakabva achondroplasia is genetic.

Zvechokwadi, kukura kwechirwere ichi kunokonzerwa nekuchinja mukati meFGFR3 gene. Iri geni rinogonesa kuumbwa kweprotein inobatanidzwa mukuvandudza uye kurongeka kwefupa uye uropi tishu.

Pane machinjiro maviri chaiwo ejeni iri. Maererano nemasayendisiti, kuchinja uku kuri mubvunzo kunokonzera kushandiswa kwakawanda kweprotein, kuvhiringidza kukura kwe skeleton uye kutungamirira kumapfupa emapfupa. (2)

Chirwere ichi chinoparadzirwa ne autosomal dominant process. Kana kuti, iyo imwe chete yemakopi maviri eiyo mutated gene yekufarira inokwana kuti chidzidzo chigadzirise chirwere chakabatana che phenotype. Varwere vane achondroplasia vanobva vagara nhaka kopi yeakachinja FGFR3 gene kubva kune mumwe wevabereki vaviri vanorwara.

Nenzira iyi yekutapurirana, saka pane mukana we50% wekutapurira chirwere kumwana. (1)

Vanhu vanogara nhaka makopi akachinja ejini rekufarira vanokudziridza chimiro chakakomba chechirwere chinokonzeresa kuomarara kwemakumbo nemapfupa. Varwere ava vanowanzozvarwa nguva isati yakwana uye vanofa vachangozvarwa nekutadza kufema zvakanaka. (2)

Zvikonzero zvinokonzeresa chirwere ndeche genetic.

Muchokwadi, chirwere chinotapurirwa kuburikidza neautosomal inotungamira kutamiswa ine chekuita neiyo FGFR3 gene.

Iyi nheyo yekufambisa inoratidza kuti kuvapo kwakasiyana kwekopi imwe chete yejini yakashandurwa yakakwana pakukura kwechirwere.

Nenzira iyi, munhu ane mumwe wevabereki vake vaviri vane chirwere ichi ane 50% yengozi yekugara nhaka mutated gene, uye nekudaro zvakare kukura chirwere.

Kuongororwa kwechirwere ndiko kutanga kwezvose zvakasiyana. Zvechokwadi, mukuona kwakasiyana-siyana kunobatanidza maitiro emuviri: rhizomelia, hyper-lordosis, brachydactyly, macrocephaly, hypoplasia, etc. chiremba anogona kufungidzira chirwere munyaya yacho.

Yakabatana neiyi yekutanga kuongororwa, kuongororwa kwemajini kunoita kuti zvikwanise kuratidza kuvepo kunogona kuitika kweiyo mutated FGFR3 gene.

Kurapa kwechirwere kunotanga nekudzivirira kunotevera. Izvi zvinobatsira kudzivirira kukura kwezvinetso, izvo zvinogona kuuraya, kune varwere vane achondroplasia.

Kuvhiyiwa kwehydrocephalus kunowanzodikanwa muvana vachangozvarwa. Mukuwedzera, mamwe maitiro ekuvhiya anogona kuitwa kuitira kurebesa mitezo.

Zvirwere zvenzeve, zvirwere zvenzeve, zvinetso zvekunzwa, nezvimwewo zvinorapwa nemishonga yakakwana.

Kuraira makosi ekurapa kutaura kunogona kubatsira kune zvimwe zvidzidzo zvinorwara.

Adenotonsillectomy (kubviswa kwematonsi uye adenoids) inogona kuitwa mukurapa kwehope yekurara.

Kuwedzerwa kune idzi marapirwo nekuvhiyiwa, kutariswa kwekudya uye kudya kunowanzo kukurudzirwa kuvana vanorwara.

Nguva yehupenyu yevanorwara yakaderera zvishoma kudarika hupenyu hwehuwandu hwevanhu. Mukuwedzera, kukura kwezvinetso, kunyanya zvemwoyo, zvinogona kuva nemigumisiro yakaipa pane zvakakosha kufungidzira kwevarwere. (1)