Mapfupa ako anotyoka zviri nyore here? Ngatitaurei nezve Osteogenesis Imperfecta, kana kuti chirwere chemapfupa anopwanyika!

Wakambonzwa nezvevanhu vanozvarwa vaine mapfupa asina simba, ane mapfupa anotyoka nyore nyore here? Pamwe mumwe munhu mumhuri mako, kana mwana weshamwari yako, ane chirwere ichi. Zvinosuwisa uye zvinonetsa. Nhasi tichataura nezvechirwere ichi chemapfupa asina kusimba, kana kuti mukurapa, Osteogenesis Imperfecta (OI) .

Chii chinonzi Osteogenesis Imperfecta?

Zvichitaurwa zviri nyore, osteogenesis imperfecta chirwere chinokanganisa nhengo dzemuviri wedu. Izvi zvinoita kuti mapfupa ako ave asina kusimba. Izvi zvinoreva kuti anogona kutyoka pasina kukuvadzwa zvakanyanya, dzimwe nguva pasina chikonzero zvachose.

Chikonzero chikuru cheizvi ndechekuti muviri wedu haugadzi mapuroteni akakwana anonzi Type I Collagen , kana kuti unogadzisa collagen isina kuumbwa zvakanaka. Funga nezvazvo nenzira iyi, collagen yakafanana neglue iri mumiviri yedu. Iyi collagen yakakosha zvikuru pakuvaka chimiro chemapfupa edu, ganda, tsandanyama, marunda, nezvimwewo, uye kuachengetedza akasimba. Saka, kana iyi collagen isina kuumbwa zvakanaka, mapfupa anoshaya simba. Izwi rekuti "osteogenesis imperfecta" rinoreva "mapfupa asina kuumbwa zvakanaka."

Nekuda kweizvi, vanhu vane chirwere ichi havangowanzo tyoka mapfupa muhupenyu hwavo hwese, asi vanogonawo kuva nematambudziko nezvimwe zvikamu zvemuviri wavo, zvakaita semazino, ganda, musana, nemapapu.

Zviratidzo zvechirwere ichi chinowanzoonekwa zvakanyanya hazvinyanyi kuoma, asi zvimwe zvirwere zvakakomba zvinogona kukonzera matambudziko akakomba.

Ndeapi marudzi makuru e osteogenesis imperfecta (OI)?

Kunyange hazvo vanachiremba vachikamura OI kuita mhando dzinenge gumi nepfumbamwe (rudzi rwekutanga kusvika ku19), tinowanzo taura nezvemhando dzekutanga, dzechipiri, dzechitatu, nedzechina. Kupatsanurwa uku kwakavakirwa pakugadzirwa kwecollagen uye mhedzisiro yayo pamuviri.

• Rudzi I:

Rudzi urwu ndirwo runonyanya kuwanikwa, rune zviratidzo zvishoma. Vanhu vane OI vanotyoka mapfupa avo zviri nyore kupfuura vanhu vasina OI. Zvisinei, kutyoka uku kunowanzoitika vasati vasvika pazera rekuyaruka . Rudzi urwu harukonzeri kuremadzwa kukuru kwemapfupa. Vamwe vanhu vanogona kunge vaine ruvara rwebhuruu kumeso avo, runonzi sclerae . Izvi zvinonziwo "classic non-deformative osteogenesis imperfecta ine blue sclera."

• Rudzi rwechipiri:

Iyi ndiyo mhando yeOI yakanyanya kuipa uye ine njodzi. Mumamiriro ezvinhu aya, mapapu haakure zvakanaka (nekuti mbabvu hadziumbike zvakanaka), mapfupa akaremara zvakanyanya anoitika, uye mwana anogona kunge aine mapfupa akawanda akatyoka achiri mudumbu, kureva kuti, asati aberekwa. Vana vane rudzi urwu vanofa pakarepo kana mukati memazuva mashoma ekuzvarwa . Izvi zvinonziwo "perinatal osteogenesis imperfecta."

• Rudzi rwechitatu:

Iyi ndiyo mhando yeOI yakanyanya kuipa inogona kupfuudzwa mushure mekuzvarwa. Inokonzerawo kuremara kwemapfupa kwakanyanya , zvichiita kuti mapfupa asave akapfava. Izvi zvinogona kukonzera kuremara kwakanyanya kwemuviri. Kazhinji, vacheche ava vanova nemapfupa akatyoka pakuzvarwa. Izvi zvinonziwo "progressive osteogenesis imperfecta."

• Rudzi rwechina:

Rudzi urwu rwakanyanya kuoma kupfuura Rudzi rwekutanga, asi haruna kuoma kupfuura Rudzi rwechitatu. Vanhu vane rudzi urwu vanogona kunge vaine mapfupa asina kusimba kusvika pakati nepakati. Mapfupa haana kusimba kupfuura asina OI, asi haatyoki nyore nyore seavo vane Rudzi rwechitatu. Machena emaziso anogona kunge aine ruvara rwakafanana.

Chirwere ichi chakajairika zvakadii?

Osteogenesis imperfecta chirwere chisingawanzoitiki . Pasi rose, zvinofungidzirwa kuti chirwere ichi chinobata munhu mumwe chete pavanhu zviuru makumi maviri.

Ndezvipi zviratidzo zve osteogenesis imperfecta (OI)?

Saka, zviratidzo zvemunhu ane chirwere ichi ndezvipi? Zviratidzo izvi zvinogona kusiyana zvichienderana nerudzi rwechirwere.

• Mapfupa anotyoka zviri nyore (ichi ndicho chiratidzo chikuru uye chinowanzoonekwa)
• Kuremara kwemapfupa (semuenzaniso, makumbo akakotama, maoko)
• Kurwadziwa kwemapfupa
• Machena emaziso (sclerae) anova ruvara rwebhuruu, grey, kana pepuru.
• Kukuvara zviri nyore
• Kuoma kufema
• Kurasikirwa nekunzwa - dzimwe nguva kunogona kutanga pazera diki
• Majoini asina kusimba
• Kushaya simba kwetsandanyama
• Kukombama kwemusana - semuenzaniso, hunchback (kyphosis) kana kuti sideways spine curve (scoliosis)
• Hurefu hudiki
• Chimiro chechiso chetriangular
• Kupera simba kwemazino, kutyoka nyore nyore, kuchinja ruvara rwemazino (zvichida ruvara rweyero-brown)
• Mazino asingawirirane zvakanaka (Malocclusion)
• Keji yembabvu yakaita sebhareri

Chikonzero cheizvi chii?

Chikonzero chikuru che osteogenesis imperfecta imutation yemajini . Zvichitaurwa zviri nyore, chikanganiso chidiki mupurani huru inoumba muviri wedu, ndiko kuti, mumajini edu.

Izvi zvinowanzokonzerwa nekuchinja kwemajini maviri anonzi COL1A1 kana COL1A2 . Majini maviri aya anobatsira kugadzira puroteni inonzi Type I Collagen yatakambotaura nezvayo. Saka, kana paine kuchinja kwemajini aya, muviri haugadzi collagen yakakwana, kana kuti mhando yecollagen inogadzirwa inoderera. Mamwe marudzi eOI asingawanzoitiki anogonawo kukonzerwa nekuchinja kwemajini mamwe ecollagen.

Kuchinja kwemajini uku dzimwe nguva kunogona kuitika nguva nenguva, zvichireva kuti kunoitika kamwe kamwe. Kana kuti, kunogona kugara nhaka kubva kumubereki mumwe chete kana vese.Vamwe vanhu vanogona kunge vari ivo vanotakura jini rinokonzera OI. Izvi zvinoreva kuti kunyangwe vasina zviratidzo, vanogona kutapurira jini nechirwere kuvana vavo.

Mhando ina dzinonyanya kuzivikanwa dzeOI (Types I-IV) dzinogara nhaka mu autosomal dominant pattern. Izvi zvinoreva kuti mwana anofanira kugara nhaka gene rakakanganisika kubva kumubereki mumwe chete kuti awane chirwere ichi. Dzimwe mhando dzisingawanzoitiki dzinogona kugara nhaka mu autosomal recessive (inoda kuti vabereki vese vagare nhaka gene rakakanganisika) kana X-linked (inogarwa nhaka kuburikidza ne X chromosome).

Ndezvipi zvinhu zvinokonzera osteogenesis imperfecta (OI)?

Kutaura zvazviri, chirwere ichi chinogona kuitika pakuzvarwa kwemunhu wese. Zvisinei, kana mumwe munhu mumhuri yako aine chirwere ichi, njodzi yako yekubatwa nechirwere ichi yakanyanya .

Ndezvipi zvinetso zvinogona kukonzera chirwere ichi?

Matambudziko anosiyana zvichienderana nerudzi uye kuoma kweOI. Mamwe acho anosanganisira:

• Chirwere chemwoyo, semuenzaniso, kutadza kwemoyo
• Mabayo anowanzoitika
• Matambudziko ekufema, pamwe kutadza kufema
• Matambudziko anokanganisa hurongwa hwetsinga

Vanachiremba vanoongorora sei chirwere ichi?

Vanachiremba vanowanzoongorora chirwere chemapfupa asina kusimba, kana kuti OI, panguva yehudiki. Miedzo mikuru yeizvi ndeiyi:

• Kuongororwa kwemajini: Izvi zvinogona kuona kana paine dambudziko remajini rinokonzera OI.
• Kuongororwa kwehuwandu hwemapfupa: Izvi zvinoongorora kusimba kwemapfupa.

Dzimwe nguva, vanachiremba vanogona kufungidzira izvi panguva yekuzvitakura zvichibva pane hunhu hunoonekwa pa ultrasound scan yemwana. Kana izvi zvikaitika, kuongororwa kwechirwere kunogona kusimbiswa kungave panguva yekuzvitakura nekuita bvunzo inonzi amniocentesis (imo munotorwa sampuli diki yemvura yakakomberedza mwana uye masero ake anoongororwa majini) kana mushure mekuzvarwa kwemwana.

Ndeipi mishonga yekurapa osteogenesis imperfecta (OI)?

Hakuna mushonga weOI, asi kune nzira dzakawanda dzekurapa dzinogona kubatsira kusimbisa mapfupa, kudzora zviratidzo, uye kubatsira vanhu vane OI kurarama vakazvimiririra sezvinobvira .

Hurongwa hwekurapa hunosiyana kubva pamunhu kusvika pamunhu. Hunogona kusanganisira:

• Kurapa Nemabasa (OT): Izvi zvinobatsira kukudziridza hunyanzvi hunodiwa kuti uite mabasa ezuva nezuva, akadai sekupfeka, kudya, uye kunyora, wega.
• Kurapa Kwemuviri (PT): Izvi zvinosanganisira maekisesaizi asinganyanyi kukuvadza anobatsira kusimbisa mapfupa netsandanyama, kuvandudza kufamba, uye kuchengetedza kuenzana kwemuviri.
• Zvishandiso zvekubatsira: Vafambi , Nhunzi , MakumboUngangofanira kushandisa zvinhu zvakaita semadondoro .
• Kutarisirwa kwemuromo nemazino: Unofanira kuona chiremba wemazino nguva nenguva kuti aongorore uye arape matambudziko emazino ako neshaya. Ungangoda kutarisirwa kwemazino kuti ururamise mazino ako.
• Kutarisirwa kwekufema: Kana uchinetseka kufema, ungangoda kuona chiremba wemapapu kuti arapwe.
• Mishonga: Chiremba wako anogona kukupa mishonga yakaita se bisphosphonates, iyo inobatsira kusimbisa mapfupa.
• Kuvhiyiwa: Matavi esimbi anogona kuiswa nekuvhiyiwa kuti atwasanudze uye asimbise mapfupa akakombama kana akaremara.
• Zvishongo zvesimbi, zvisungo zvesimbi, kana kuti zvisungo zvesimbi: Izvi zvinoshandiswa kudzivirira mapfupa akatyoka paanenge achipora kana mushure mekuvhiyiwa.

Munhu ane osteogenesis imperfecta (OI) anotarisirwa kurarama kwenguva yakareba sei?

Izvi zvinoenderana chaizvo nerudzi rweOI.

• Munhu ane Type I , rudzi rwakajairika uye rusina kunyanya kuoma, anogona kurarama hupenyu hwakajairika, kungofanana nemunhu asina OI.
• Kunyange hazvo vanhu vane Type IV vachigara vachirarama kusvika vakura, hupenyu hwavo hunogona kupfupika zvishoma .
• Sezvatakambokurukura, vacheche vane Type II vanofa pakarepo kana mukati memazuva mashoma ekuzvarwa .

Chirwere ichi chinogona kudzivirirwa here?

Osteogenesis imperfecta chirwere chinokonzerwa nemajini, saka hachigone kudzivirirwa . Zvisinei, kana iwe, mudiwa wako, kana mumwe munhu mumhuri yako aine OI, zvakakosha kutaura nenyanzvi yezvemajini . Vanogona kukuudza nezvenjodzi yekupa chirwere ichi kuvana vako.

Munhu ane OI angachengetedza sei hutano hwakanaka hwemapfupa?

Kana iwe kana mwana wako aine osteogenesis imperfecta, munogona kuita zvinhu izvi kuti mapfupa enyu ave neutano hwakanaka sezvinobvira:

• Idya chikafu chine calcium yakawanda nevhitamini D. (semuenzaniso mukaka, chizi, yogati, miriwo mitema, hove diki, zai, kupiswa nezuva)
• Ita maekisesaizi anokurudzirwa nachiremba wako. (Uchingopiwa zano nachiremba chete!)
• Deredza kushandiswa kwedoro necaffeine (inowanikwa mutii, kofi, chokoreti).
• Kana uchisvuta, rega , uye usave munzvimbo dzinosvuta vamwe (utsi hwevamwe).
• Chengetedzawo hutano hwepfungwa dzako . Kunyanya kuvana nevechidiki, kutaura nemushandi wezvemagariro evanhu kana mupi wezano nezvekushushikana kwekurarama nechirwere chisingaperi chakadai kunogona kubatsira zvikuru.

Ndinofanira kuona chiremba rini?

Kana iwe kana mwana wako mukaona kuti mapfupa ake ari kutyoka zviri nyore , kunyanya kana zvichiitika pasina kukuvara kukuru, kana kuti kana aine zvimwe zviratidzo zveOI zvatataura nezvazvo, iva nechokwadi chekuona chiremba. Anogona kukurudzira kuongororwazve kana zvichidikanwa.

Ndinofanira kuenda kuEmergency Treatment Unit (ETU) riini?

Kana iwe kana mwana wako akatyoka pfupa , enda kuchipatara che emergency chiri pedyo nekukasika. Udzawo vanachiremba kana uine osteogenesis imperfecta.

Mibvunzo ipi yandinofanira kubvunza chiremba wangu?

Zvingabatsira kubvunza mibvunzo yakaita seiyi paunoona chiremba wako:

• Rudzii rwe osteogenesis imperfecta rwandinarwo ini/mwana wangu?
• Chii chandinofanira kuziva nezvenguva yekurarama ndichiri kurarama neOI?
• Ndingazvibatsira sei ini/mwana wangu kuti ndigone kudzora zviratidzo zveOI?
• Chii chandinofanira kuita kana ini/mwana wangu akatyoka pfupa?
• Mikana yekuti ndive nemumwe mwana ane osteogenesis imperfecta ndeipi?

Munhu ane osteogenesis imperfecta (OI) anogona kufamba here?

Ehe, zvinogoneka . Vanhu vane mhando dzisina kusimba dzeOI vanogona kufamba zvakanaka. Vamwe vangangoda kushandisa mabraces kana madondoro. Kurapa kwakadai se physiotherapy (PT) uye occupational therapy (OT) kwakatanga kare kunogona kubatsira kuvandudza kugona kwemwana wako kufamba.

Zvakajairika kunzwa wakaremerwa paunoziva kuti mwana wako ane chirwere chehupenyu hwake hwese. Remangwana rinogona kunge rakasiyana zvakanyanya nezvawaitarisira. Asi, zvinhu zvakaita sekurapa kwemabasa uye kurapa kwemuviri zvinotanga nekukurumidza zvinogona kukubatsira iwe nemwana wako kugadzirisa shanduko idzi. Zvakakoshawo kutaura chokwadi nechikwata chevanachiremba vemwana wako nevadikanwi vako nhanho imwe neimwe. Vanogona kukubatsira kugadzirisa zviratidzo uye kuronga ramangwana.

Pakupedzisira, meseji yekuenda nayo kumba:

Osteogenesis imperfecta chirwere chinonetsa. Asi usarasa tariro . Kuziva nezvechirwere ichi, kuongororwa nekukurumidza uye kurapwa, uye kuva nerutsigiro rwakasimba kunogona kukubatsira kudzora zviratidzo zvako uye kurarama hupenyu hwakanaka sezvinobvira. Taura pachena nezveizvi nachiremba wako nemhuri yako. Hausi wega.

` Osteogenesis Imperfecta, Brittle Bone Disease, Collagen, Bone Breakage, Genetic Disease, Child Health