Osteogenesis kusakwana

Osteogenesis imperfecta mamiriro anokonzera mapfupa asina kusimba.

Osteogenesis imperfecta (OI) iripo pakuzvarwa. Iyo inowanzo kukonzerwa nehurema mujeni hunoburitsa mhando 1 collagen, yakakosha chivakwa chebhonzo. Pane zvakawanda zvakakanganisika zvinogona kukanganisa geni iri. Kuomarara kweIO kunoenderana neakasarudzika majini kuremara.

Kana uine 1 kopi yemajini, unenge uine chirwere. Zviitiko zvakawanda zveOI zvakagara nhaka kubva kumubereki. Nekudaro, zvimwe zviitiko mhedzisiro yekuchinja kwemajini.

Munhu ane OI ane 50% mukana wekupfuudza jeni nechirwere kuvana vavo.

Vanhu vese vane OI vane mapfupa asina simba, uye kutsemuka kunowanzoitika. Vanhu vane OI vanowanzo kuve pazasi pevhareji kureba (pfupi pfupi). Zvisinei, kuoma kwechirwere kunosiyana zvikuru.

Zviratidzo zvekare zvinosanganisira:

• Bhuruu tint kune avo vachena vemeso avo (blue sclera)
• Akawanda mapfupa akatsemuka
• Kutanga kurasikirwa kwekunzwa (matsi)

Nekuti mhando I collagen inowanikwawo mumisungo, vanhu vane OI vanowanzove nemajoini akasununguka (kusagadzikana) uye tsoka dzakatsetseka. Dzimwe mhando dzeOI zvakare dzinotungamira mukuvandudzwa kwemazino mashoma.

Zviratidzo zvemamwe mafomu akaomarara eIO anogona kusanganisira:

• Akakotamisa makumbo nemaoko
• Kyphosis
• Scoliosis (S-curve musana)

OI inowanzo fungidzirwa muvana vane mapfupa anotyoka nesimba shoma. Kuongorora kwemuviri kunogona kuratidza kuti vachena vemeso avo vane bhuruu tint.

Kuongororwa kwekupedzisira kunogona kuitwa uchishandisa ganda punch biopsy. Nhengo dzemhuri dzinogona kupihwa kuongororwa kweropa reDNA.

Kana paine nhoroondo yemhuri yeOTI, chorionic villus sampling inogona kuitwa panguva yekuzvitakura kuti uone kana mwana aine chirwere. Nekudaro, nekuti shanduko dzakasiyana siyana dzinogona kukonzera OI, mamwe mafomu haakwanise kuongororwa aine genetic test.

Iyo yakaoma fomu yerudzi rwechipiri OI inogona kuoneka pane ultrasound kana iyo fetus iri diki semavhiki gumi nematanhatu.

Hakusati kune mushonga wechirwere ichi. Nekudaro, chaiwo marapirwo anogona kudzikisa marwadzo uye kunetseka kubva kuOI.

Zvinodhaka zvinogona kuwedzera kusimba uye kuwanda kwemapfupa zvinoshandiswa muvanhu vane OI. Ivo vakaratidzirwa kudzikisa marwadzo emapfupa uye kupaza mwero (kunyanya mumapfupa emuzongoza). Ivo vanonzi bisphosphonates.

Maitiro mashoma ekudzidzira, akadai sekushambira, chengetedza mhasuru yakasimba uye kubatsira kuchengetedza mapfupa akasimba. Vanhu vane OI vanogona kubatsirwa nezviitwa izvi uye vanofanirwa kukurudzirwa kuzviita.

Mune zviitiko zvakakomba zvakanyanya, kuvhiyiwa kuisa matanda esimbi mumapfupa marefu emakumbo kunogona kutariswa. Maitiro aya anogona kusimbisa pfupa uye kudzikisa njodzi yekutyoka. Bracing inogona zvakare kubatsira kune vamwe vanhu.

Kuvhiya kunogona kudikanwa kugadzirisa chero chakaremara. Kurapa uku kwakakosha nekuti hurema (hwakadai sewakakotama makumbo kana dambudziko remuzongoza) hunogona kukanganisa kugona kwemunhu kufamba kana kufamba.

Kunyangwe nekurapwa, kutsemuka kuchaitika. Kazhinji kutsemuka kunopora nekukurumidza. Nguva muchikanda inofanirwa kushomeka, nekuti kurasikirwa kwepfupa kunogona kuitika kana ukasashandisa chikamu chemuviri wako kwenguva yakati.

Vana vazhinji vane OI vanova nezvinetso zvemuviri sezvavanopinda makore avo ekuyaruka. Mushandi wezvemagariro kana chiremba wepfungwa anogona kuvabatsira kujairana nehupenyu neOI.

Kuita zvakanaka kwemunhu kunoenderana nerudzi rweOI yaainayo.

• Type I, kana nyoro OI, ndiyo yakajairika fomu. Vanhu vane mhando iyi vanogona kurarama hupenyu hwakajairika.
• Rudzi rwechipiri chimiro chakakomba icho chinowanzoendesa kurufu mugore rekutanga rehupenyu.
• Type III inonzi zvakare yakasimba OI. Vanhu vane rudzi urwu vane zvakawanda zvakaputsika zvinotanga kutanga muhupenyu uye vanogona kuve nekuremara kwemapfupa. Vanhu vazhinji vanofanirwa kushandisa wiricheya uye kazhinji vane yakati pfupi tarisiro yeupenyu.
• Type IV, kana zvine mwero zvakanyanya OI, yakafanana nerudzi rweI, kunyangwe vanhu vane mhando IV vanowanzoda mabhureki kana madondoro kuti vafambe. Hupenyu hunotarisirwa hwakajairika kana padhuze neyakajairwa.

Kune mamwe marudzi eOI, asi anoitika kashoma uye mazhinji anoonekwa kunge madiki erudzi rwakanyanya (mhando IV).

Zvinetso zvinowanzoenderana nerudzi rweOI iripo. Ivo anowanzoenderana zvakananga kumatambudziko nemapfupa asina kusimba uye akawanda akatsemuka.

Zvinetso zvinogona kusanganisira:

• Kunzwa kurasikirwa (zvakajairika murudzi rweI uye mhando III)
• Kutadza kwemoyo (mhando II)
• Matambudziko ekufema uye mabayo nekuda kwechifuva madziro akaremara
• Mutsara wepelinha kana matambudziko ehuropi
• Kusagadzikana zvachose

Mafomu akasimba anowanzoonekwa achiri mudiki muhupenyu, asi kesi dzakapfava dzinogona kunge dzisingacherechedzwe kusvika gare gare muhupenyu. Ona wako mupi wehutano kana iwe kana mwana wako muine zviratidzo zveichi chiitiko.

Genetic counselling inokurudzirwa kune vakaroorana vanofunga nezvepamuviri kana paine yega kana yemhuri nhoroondo yeichi chiitiko.

Brittle bone chirwere; Hosha yekuberekwa; OI

• Pectus excavatum

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Marini JC. Osteogenesis kusakwana. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chits. 721.

Mwanakomana-Hing JP, Thompson GH. Congenital kusagadzikana kwekumusoro uye kwakadzika magumo uye musana. Mune: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff naMartin's Neonatal-Perinatal Mushonga. 11th ed. Philadelphia, PA: Elsevier; 2020: chits. 99.