Chirwere cheStone man, kana kuti progressive ossifying fibrodysplasia (FOP) chirwere chisingawanzoitiki uye chinoremadza zvakakomba. Misumbu nematendon evanhu vakabatwa zvishoma nezvishoma ossify: muviri unobatwa zvishoma nezvishoma mumatrix emapfupa. Ikozvino hakuna mushonga, asi kuwanikwa kwejini rinogumbura kwakagadzira nzira yetsvakiridzo inovimbisa.

tsananguro

Progressive ossifying fibrodysplasia (PFO), inozivikanwa zviri nani pasi pezita redombo remunhu chirwere, chirwere chinoremadza chenhaka. Iyo inoratidzirwa nekuzvarwa malformations yezvigunwe zvikuru uye nekufambira mberi ossification yemamwe ma extraskeletal soft tissues.

Iyi ossification inonzi heterotopic: qualitatively normal bone bone inoumbwa painenge isipo, mukati memhasuru, tendon, ligaments uye connective tissues inonzi fascias uye aponeuroses. Tsandanyama dzeziso, diaphragm, rurimi, pharynx, larynx uye tsandanyama dzakatsetseka hadziregererwi.

Chirwere cheStone man chinofambira mberi mukupisa, izvo zvishoma nezvishoma zvinoderedza kufamba uye kuzvimirira, zvichiita kuti ankylosis yezvibatanidza uye zviremara.

Zvinokonzera

Jeni iri mubvunzo, iri pachromosome yechipiri, yakawanikwa muna Kubvumbi 2006. Inonzi ACVR1 / ALK2, inotonga kugadzirwa kweprotein receptor iyo kukura kwezvinhu zvinokurudzira kuumbwa kwemapfupa anosunga. Imwe shanduko - imwe "tsamba" "kukanganisa" mune genetic code - inokwana kukonzera chirwere.

Kazhinji kacho, kuchinja uku kunoitika pano neapo uye hakupfuudzirwi kumwana. Zvisinei, nhamba shomanana yemhaka yenhaka inozivikanwa.

chirwere

Kuongororwa kunobva pakuongorora kwemuviri, kunowedzerwa neyakajairwa x-rays inoratidza kusakwana kwemapfupa. 

Kubvunzurudzwa kwemajini ekurapa kunobatsira kuti ubatsirwe kubva pakudzidza kwema molecular ye genome. Izvi zvichaita kuti zvikwanisike kuziva shanduko iri mubvunzo kuitira kuti ubatsirwe kubva kune yakakwana genetic counselling. Chokwadi, kana mafomu echinyakare eiyi pathology achigara akabatanidzwa kune imwechete shanduko, atypical mafomu ane hukama nemamwe shanduko anoramba achigoneka.

Prenatal screening haisati yavepo.

Vanhu vane hanya

FOP inobata asingasviki munhu mumwe mumamiriyoni maviri pasi rose (2 kesi dzakaonekwa maererano neAssociation FOP France), pasina mutsauko webonde kana dzinza. MuFrance, vanhu 2500 vari kunetseka nhasi.

Zviratidzo zvechirwere zviri kufambira mberi. 

Kuremara kwezvigunwe zvikuru zvetsoka

Pakuzvarwa, vana vakajairwa kunze kwekuvapo kwekusagadzikana kwekuzvarwa kwezvigunwe zvikuru. Kazhinji, idzi ipfupi uye dzakatsauka mukati ("false hallux valgus"), nekuda kwekukanganisa kunobata 1st metatarsal, pfupa refu retsoka rinotaurwa nekutanga phalanx.

Iyi malformation inogona kubatanidzwa ne mono phalangism; dzimwe nguva, zvakare, ichi ndicho chete chiratidzo chechirwere. 

Anosundira

Iyo inoteedzana ossification yemhasuru nematendon zvinowanzoitika mumakore makumi maviri ekutanga ehupenyu, zvichitevera kufambira mberi kubva kumusoro kwemuviri zvichidzika uye kubva kumashure kuenda kune anterior chiso. Vanotungamirirwa nechitarisiko chekuwedzera kana kushoma, kunorwadza uye kuputika kwekuputika. Izvi zvinoputika zvinoputika zvinogona kukonzerwa nekushungurudzika (kukuvara kana kuvhunduka zvakananga), jekiseni remumuscular, utachiona hwehutachiona, kutambanudza tsandanyama, kana kuneta kana kushungurudzika.

Mamwe anomalies

Bone abnormalities akadai seabnormal bone production mumabvi kana fusion yecervical vertebrae dzimwe nguva inoonekwa mumakore ekutanga.

Kurasikirwa kwekunzwa kunogona kuonekwa kubva pakuyaruka.

kushanduka

Kuumbwa kwe "skeleton yechipiri" zvishoma nezvishoma kunoderedza kufamba. Mukuwedzera, matambudziko ekufema anogona kuoneka semugumisiro wekufambira mberi kwe ossification ye intercostal uye kumashure mamhasuru uye kuremara. Kurasikirwa kwekufamba kunowedzerawo njodzi yezviitiko zve thromboembolic (phlebitis kana pulmonary embolism).

Avhareji yekurarama hupenyu hunosvika makore makumi mana.

Parizvino, hapana kurapwa kunowanikwa. Kuwanikwa kwejini iri mubvunzo, zvisinei, kwakabvumira kufambira mberi kukuru mukutsvaga. Vatsvakurudzi vari kuongorora kunyanya nzira inovimbisa yekurapa, iyo yaizoita kuti zvikwanisike kunyararidza shanduko yejini nekushandisa nzira inopindira yeRNA.

Syndromeomatic kurapwa

Mukati memaawa makumi maviri nemana ekutanga ekuputika, high dose corticosteroid therapy inogona kutangwa. Inopihwa kwemazuva mana, inogona kupa zororo kune varwere nekudzikisa kwakanyanya kuzvimba uye edematous reaction inocherechedzwa mumatanho ekutanga echirwere.

Zvinonyaradza marwadzo uye mhasuru zvinogona kubatsira nekurwadziwa kwakanyanya.

Kutsigira kwevarwere

Zvese zvinodiwa zvevanhu uye zvehunyanzvi zvinobatsira zvinofanirwa kuitwa kuti zvibvumire vanhu vanorwara nechirwere chedombo kuti vachengetedze huwandu hwekuzvitonga uye kubatanidza mune zvedzidzo ipapo nehunyanzvi.

Zvinosuruvarisa, kudzivirira kutanga kweFOP hakugoneki. Asi matanho ekudzivirira anogona kutorwa kuderedza kukura kwayo.

Prophylaxis yekudzokazve

Dzidzo pamwe chete nekugadzirisa kwezvakatipoteredza kunofanira kuva nechinangwa chekudzivirira kukuvara nekudonha. Kupfeka ngowani kunogona kukurudzirwa kuvana vaduku. 

Vanhu vanorwara nechirwere chematombo vanofanirwawo kudzivirira kusangana nehutachiona uye kungwarira zvakanyanya nehutsanana hwavo hwemazino, sezvo kuchengetedza kwemazino kusingaite kunogona kukonzera flare-ups.

Chero nzira yekurapa inoparadza (biopsies, kuvhiya maitiro, nezvimwewo) inorambidzwa kunze kwekunge yanyanya kukosha. Majekiseni eIntramuscular (majekiseni, nezvimwewo) haanawo kubatanidzwa.

Kurapa kwepanyama

Kuunganidzwa kwemuviri nekufamba zvinyoro kunobatsira kurwisa kurasikirwa kwekufamba. Kunyanya, kugadzirisa dziva rekushambira kunogona kubatsira.

Nzira dzekudzidzira kufema dzinobatsirawo mukudzivirira kuparara kwekufema.

Mamwe matanho

• Kutariswa kwekunzwa
• Kudzivirirwa kwephlebitis (yakasimudza maoko nemakumbo kana yakarara pasi, compression stockings, low-dose aspirin mushure mekuyaruka)