Ese amagufwa yawe yavunika byoroshye? Reka tuvuge kuri Osteogenesis Imperfecta, cyangwa indwara y'amagufwa acikagurika!

Ese wigeze wumva abantu bavukana amagufwa adakomeye cyane, amagufwa yabo agacika vuba? Wenda hari umuntu wo mu muryango wawe, cyangwa umwana w'inshuti yawe, ufite iyi ndwara. Birababaje cyane kandi biragoye. Uyu munsi tugiye kuvuga kuri iyi 'ndwara y'amagufwa adakomeye', cyangwa mu buryo bw'ubuvuzi, Osteogenesis Imperfecta (OI) .

Osteogenesis Imperfecta ni iki?

Muri make, osteogenesis imperfecta ni indwara igira ingaruka ku ngingo zigize umubiri wacu. Ibi bituma amagufwa yawe acika intege cyane. Ibi bivuze ko ashobora kuvunika nta ngaruka nyinshi, rimwe na rimwe nta mpamvu na mba.

Impamvu nyamukuru ibitera ni uko umubiri wacu udakora poroteyine ihagije yitwa Type I Collagen , cyangwa ikora collagen idakozwe neza. Tekereza muri ubu buryo, collagen ni nk'umuti uri mu mibiri yacu. Iyi collagen ni ingenzi cyane mu kubaka imiterere y'amagufwa yacu, uruhu, imitsi, imitsi, n'ibindi, no kuyikomeza. Rero, iyo iyi collagen idakozwe neza, amagufwa acika intege. Ijambo "osteogenesis imperfecta" risobanura "amagufwa adakozwe neza."

Kubera iyo mpamvu, abantu barwaye iyi ndwara ntibakunze guhura n’ibibazo byo kuvunika amagufwa mu buzima bwabo bwose, ahubwo bashobora no kugira ibibazo mu bindi bice by’umubiri wabo, nko mu menyo, mu ruhu, mu mugongo no mu bihaha.

Ibimenyetso by'ubwoko bukunze kugaragara bw'iyi ndwara akenshi biba byoroshye, ariko ubwoko bumwe na bumwe bukomeye bushobora gutera ingorane zikomeye.

Ni ubuhe bwoko bw'ingenzi bwa osteogenesis imperfecta (OI)?

Nubwo abaganga bagabanya OI mu moko agera kuri 19 (kuva mu bwoko bwa I kugeza kuri XIX), akenshi tuvuga ubwoko bwa I, II, III, na IV. Aya matsinda ashingiye ku buryo kolajeni ikorwa n'ingaruka igira ku mubiri.

• Ubwoko bwa I:

Ubu ni bwo bwoko bukunze kugaragara cyane, bufite ibimenyetso bike cyane. Abantu bafite OI bavunika amagufwa yabo byoroshye kurusha abadafite OI. Ariko, uku kuvunika gukunze kubaho mbere y'ubugimbi . Ubu bwoko ntibutera ubumuga bukomeye bw'amagufwa. Hari abantu bashobora kugira ibara ry'ubururu ku maso yabo, ryitwa sclerae . Ibi kandi byitwa "classic non-deformative osteogenesis imperfecta hamwe na sclera y'ubururu."

• Ubwoko bwa kabiri:

Ubu ni bwo bwoko bwa OI bukabije kandi buteje akaga cyane. Muri iki kibazo, ibihaha ntibikura neza (kuko urubavu rutakora neza), habaho ubumuga bukomeye bw'amagufwa, kandi umwana ashobora kuvunika amagufwa menshi akiri mu nda, ni ukuvuga mbere yo kuvuka. Abana bafite ubwo bwoko bapfa ako kanya cyangwa mu minsi mike nyuma yo kuvuka . Ibi kandi byitwa "perinatal osteogenesis imperfecta."

• Ubwoko bwa gatatu:

Ubu ni bwo bwoko bwa OI bukabije cyane bushobora kwanduzwa nyuma yo kuvuka. Bunatera ubumuga bukomeye bw'amagufwa , bigatuma amagufwa acika intege cyane. Ibi bishobora gutera ubumuga bukomeye bw'umubiri. Akenshi, aba bana bavunika amagufwa igihe bavuka. Ibi kandi byitwa "progressive osteogenesis imperfecta."

• Ubwoko bwa IV:

Ubu bwoko burakomeye kurusha ubwoko bwa mbere, ariko burakomeye cyane kurusha ubwoko bwa gatatu. Abantu bafite ubu bwoko bashobora kugira ubumuga bworoheje kugeza ku buringaniye bw'amagufwa. Amagufwa yoroshye cyane kurusha adafite indwara ya OI, ariko ntavunika byoroshye nk'abafite ubwoko bwa gatatu. Ibara ry'umweru ry'amaso rishobora kuba risanzwe.

Iyi ndwara ikunze kugaragara mu rugero rungana iki?

Osteogenesis imperfecta ni indwara idakunze kugaragara . Ku isi yose, bivugwa ko iyi ndwara yibasira umuntu umwe ku bantu 20.000.

Ni ibihe bimenyetso bya osteogenesis imperfecta (OI)?

None se, ni ibihe bimenyetso by'umuntu urwaye iyi ndwara? Ibi bimenyetso bishobora gutandukana bitewe n'ubwoko bw'indwara.

• Amagufwa avunika byoroshye cyane (iki ni cyo kimenyetso nyamukuru kandi gikunze kugaragara)
• Ubusembwa bw'amagufwa (urugero: amaguru ahetamye, amaboko)
• Kubabara amagufwa
• Ibara ry'umweru ry'amaso (sclerae) rihinduka ubururu, imvi, cyangwa umuhengeri.
• Gukomereka byoroshye
• Guhumeka bigoranye
• Gutakaza ubushobozi bwo kumva - rimwe na rimwe bishobora gutangira umuntu akiri muto
• Ingingo zirekuye
• Intege nke z'imitsi
• Uburyo umugongo ugonganye - urugero, umugongo uhenebereye (kyphosis) cyangwa umugongo uhenebereye ku ruhande (scoliosis)
• Igihagararo gito
• Isura ifite ishusho y'impandeshatu
• Amenyo acika intege, kuvunika byoroshye, guhindura ibara ry'amenyo (wenda ibara ry'umuhondo n'umukara)
• Amenyo adahuye neza (Malocclusion)
• Agace k'imbavu gafite ishusho y'umugozi

Impamvu ni iyihe?

Impamvu nyamukuru itera osteogenesis imperfecta ni ihinduka ry’uturemangingo . Muri make, ni ikosa rito mu gishushanyo mbonera cy’ibanze kigize umubiri wacu, ni ukuvuga mu turemangingo twacu.

Ibi akenshi biterwa n’impinduka mu turemangingo tubiri twitwa COL1A1 cyangwa COL1A2 . Izi jeni ebyiri zifasha mu gukora poroteyine yitwa Type I Collagen twavuze mbere. Rero, iyo habayeho impinduka muri izi jeni, umubiri ntukora kolajeni ihagije, cyangwa ubwiza bwa kolajeni ikorwa buragabanuka. Hari ubundi bwoko budasanzwe bwa OI bushobora guterwa n’impinduka mu turemangingo tundi twa kolajeni.

Izi mpinduka mu ngirabuzimafatizo rimwe na rimwe zishobora kubaho rimwe na rimwe, bivuze ko zibaho mu buryo butunguranye. Cyangwa, zishobora kuragwa n'umubyeyi umwe cyangwa bombi.Hari abantu bashobora kuba ari bo batwara ingirabuzimafatizo itera indwara ya OI. Ibi bivuze ko nubwo badafite ibimenyetso, bashobora kwanduza ingirabuzimafatizo n'indwara ku bana babo.

Ubwoko bune bukunze kugaragara bwa OI (Ubwoko bwa I-IV) bukomoka ku bwoko bwa autosomal dominant pattern. Ibi bivuze ko umwana agomba kuragwa gene ifite inenge iva ku mubyeyi umwe kugira ngo arware iyi ndwara. Ubundi bwoko budasanzwe bushobora kuragwa mu buryo bwa autosomal recessive (busaba ababyeyi bombi kuragwa gene ifite inenge) cyangwa X-linked (ikomoka kuri chromosome ya X).

Ni ibihe bintu bishobora gutera osteogenesis imperfecta (OI)?

Mu by’ukuri, iyi ndwara ishobora kugaragara ku muntu uwo ari we wese avuka. Ariko, niba hari umuntu wo mu muryango wawe ufite iyi ndwara, ibyago byawe byo kurwara iyi ndwara ni byinshi .

Ni izihe ngorane zishobora guterwa n'iyi ndwara?

Ingorane ziratandukanye bitewe n'ubwoko n'uburemere bwa OI. Zimwe muri zo zirimo:

• Indwara z'umutima, urugero, umutima unanirwa
• Umusonga ukunze kugaragara
• Ibibazo byo guhumeka, bishobora no kunanirwa guhumeka
• Ibibazo bigira ingaruka ku mikorere y'ubwonko

Ni gute abaganga basuzuma iyi ndwara?

Ubusanzwe abaganga bapima indwara y'amagufwa acika intege, cyangwa indwara y'ubuhumekero, mu bwana. Ibipimo by'ingenzi byabyo ni ibi bikurikira:

• Gupima imiterere y'uturemangingo: Ibi bishobora kugaragaza neza niba hari inenge y'uturemangingo itera OI.
• Ibipimo by'ubucucike bw'amagufwa: Ibi bigenzura imbaraga z'amagufwa.

Hari igihe abaganga bashobora gukeka ibi mu gihe cyo gutwita bitewe n'imiterere y'umwana yafashwe na ultrasound . Iyo ibi bibaye, indwara ishobora kwemezwa mu gihe cyo gutwita hakoreshejwe ikizamini cyitwa amniocentesis (aho hafatwa icyitegererezo gito cy'amazi akikije umwana hanyuma uturemangingo twawo tugapimwa uturemangingo) cyangwa nyuma yuko umwana avutse.

Ni ubuhe buryo bwo kuvura indwara ya osteogenesis imperfecta (OI)?

Nta muti uhari wa OI, ariko hari uburyo bwinshi bwo kuvura bushobora gufasha gukomeza amagufwa, kugenzura ibimenyetso, no gufasha abantu bafite OI kubaho mu bwisanzure bushoboka .

Gahunda yo kuvurwa izatandukana bitewe n'umuntu ku giti cye. Ishobora kuba ikubiyemo:

• Ubuvuzi bw'akazi (OT): Ibi bifasha guteza imbere ubumenyi bukenewe kugira ngo umuntu akore imirimo ya buri munsi, nko kwambara, kurya no kwandika, ku giti cye.
• Ubuvuzi bw'umubiri (PT): Ibi bikubiyemo imyitozo ngororamubiri idatera ingaruka mbi cyane ifasha gukomeza amagufwa n'imitsi, kunoza uburyo bwo kugenda, no kubungabunga uburinganire bw'umubiri.
• Ibikoresho byo gufasha: Abagenda n'amaguru , Inkoni , ImbagoUshobora kuba ugomba gukoresha ibintu nk'imbago .
• Kwita ku menyo no ku kanwa: Ugomba kujya kwa muganga w'amenyo buri gihe kugira ngo agukurikirane kandi agufashe kuvura ibibazo by'amenyo yawe n'urwasaya. Ushobora gukenera kwitabwaho n'abaganga b'amenyo kugira ngo woroshye amenyo yawe.
• Kwita ku myanya y'ubuhumekero: Niba ufite ikibazo cyo guhumeka, ushobora gukenera kubonana n'inzobere mu by'imitsi kugira ngo bagufashe kuvurwa.
• Imiti: Muganga wawe ashobora kukwandikira imiti nka bisphosphonates, ifasha gukomeza amagufwa.
• Kubagwa: Inkoni z'icyuma zishobora gushyirwamo kugira ngo zigorore kandi zikomeze amagufwa agongamye cyangwa afite ubumuga.
• Imigozi, imigozi, cyangwa imigozi: Ibi bikoreshwa mu kurinda amagufwa yavunitse mu gihe akira cyangwa nyuma yo kubagwa.

Imyaka yo kubaho y'umuntu ufite osteogenesis imperfecta (OI) ni iyihe?

Ibi biterwa cyane n'ubwoko bwa OI.

• Umuntu ufite ubwoko bwa I , ubwoko busanzwe kandi bworoheje cyane, ashobora kubaho ubuzima busanzwe, kimwe n'umuntu udafite OI.
• Nubwo abantu bafite ubwoko bwa IV basanzwe babaho kugeza bakuze, igihe cyabo cyo kubaho gishobora kuba gito .
• Nkuko twabiganiriyeho mbere, abana bafite ubwoko bwa kabiri bapfa ako kanya cyangwa mu minsi mike nyuma yo kuvuka .

Ese iyi ndwara ishobora kwirindwa?

Osteogenesis imperfecta ni indwara iterwa n'uturemangingo, bityo ntishobora kwirindwa . Ariko, niba wowe, umukunzi wawe, cyangwa undi muntu wo mu muryango wawe afite OI, ni ngombwa kuvugana n'umujyanama mu by'uturemangingo . Bashobora kukugira inama ku byago byo kwanduza abana bawe iyi ndwara.

Ni gute umuntu urwaye indwara ya OI yakomeza kugira ubuzima bwiza bw'amagufwa?

Niba wowe cyangwa umwana wawe mufite osteogenesis imperfecta, mushobora gukora ibi kugira ngo amagufwa yanyu akomeze kugira ubuzima bwiza uko bishoboka kose:

• Kurya ibiryo bikungahaye kuri kalisiyumu na vitamine D. (urugero: amata, foromaje, yawurute, imboga rwatsi, amafi mato, umuhondo w'igi, kwibasirwa n'izuba)
• Kora imyitozo ngororamubiri yasabwe na muganga wawe. (Niba ubikoze ku nama za muganga gusa!)
• Gabanya ikoreshwa ry'inzoga na kafeyine (iboneka mu cyayi, ikawa, shokora).
• Niba unywa itabi, rihagarike , kandi wirinde kuba ahantu abandi banywa itabi (itabi ry'umwotsi w'itabi ry'umwotsi w'itabi).
• Wite ku buzima bwawe bwo mu mutwe . Cyane cyane ku bana n'urubyiruko, kuganira n'umukozi ushinzwe imibereho myiza cyangwa umujyanama ku bibazo biterwa no kubana n'indwara idakira nk'iyi bishobora kugufasha cyane.

Ni ryari ngomba kujya kwa muganga?

Niba wowe cyangwa umwana wawe mubonye ko amagufwa ye avunika byoroshye cyane , cyane cyane iyo bibaho nta gikomere gikomeye, cyangwa niba afite ikindi kimenyetso cy’indwara ya OI twavuze, menya neza ko mwabonana na muganga. Ashobora kubagira inama yo gukomeza gupimwa nibiba ngombwa.

Ni ryari nkwiye kujya mu ishami rishinzwe ubuvuzi bwihutirwa (ETU) ?

Niba wowe cyangwa umwana wawe mwavunitse igufwa , jya mu cyumba cy’ubutabazi bw’ibanze kiri hafi yawe. Bibwire kandi abaganga niba ufite ikibazo cy’igufwa rya osteogenesis imperfecta.

Ni ibihe bibazo ngomba kubaza muganga wanjye?

Bishobora kuba byiza kubaza ibibazo nk'ibi mu gihe ugiye kwa muganga wawe:

• Ni ubuhe bwoko bwa osteogenesis imperfecta mfite/umwana wanjye?
• Ni iki nkwiye kumenya ku bijyanye n'igihe nzakomeza kubaho mu gihe nkiri kumwe n'indwara ya OI?
• Nigute nafasha umwana wanjye mu guhangana n'ibimenyetso by'indwara ya OI?
• Nkwiye gukora iki niba njye/umwana wanjye yavunitse igufwa?
• Ni amahirwe angahe yo kubyara undi mwana ufite ikibazo cyo kutagira ubushobozi bwo gukora osteogenesis imperfecta?

Ese umuntu ufite osteogenesis imperfecta (OI) ashobora kugenda?

Yego, birashoboka . Abantu bafite ubwoko bworoheje bwa OI bashobora kugenda neza. Bamwe bashobora gukenera gukoresha ibyuma bifasha mu kuvura indwara cyangwa imbago. Uburyo bwo kuvura nk'ubuvuzi bw'umubiri (PT) na occupational therapy (OT) butangira hakiri kare bushobora gufasha umwana wawe kunoza ubushobozi bwe bwo kugenda.

Ni ibisanzwe kumva uremerewe iyo umenye ko umwana wawe afite indwara izahoraho. Ejo hazaza hashobora kuba hatandukanye cyane n'uko wabyiteze. Ariko, ibintu nk'ubuvuzi bw'akazi n'ubuvuzi bw'umubiri bitangira hakiri kare bishobora kugufasha wowe n'umwana wawe kumenyera izi mpinduka. Ni ngombwa kandi kuvugana mu buryo buboneye n'itsinda ry'abaganga b'umwana wawe n'abakunzi bawe mu ntambwe zose. Bashobora kugufasha guhangana n'ibimenyetso no gufata gahunda yo kwitegura ejo hazaza.

Hanyuma, ubutumwa bwo kujyana mu rugo:

Osteogenesis imperfecta ni indwara igoye. Ariko ntucike intege . Kumenya neza iyo ndwara, kwisuzumisha no kuvurwa hakiri kare, no kugira ubufasha bukomeye bishobora kugufasha guhangana n'ibimenyetso byawe no kubaho ubuzima bwiza uko bishoboka kose. Biganireho na muganga wawe n'umuryango wawe mu buryo bweruye. Ntabwo uri wenyine.

` Osteogenesis Imperfecta, Indwara y'amagufwa yo mu bwoko bwa Brittle, Kolajeni, Gucika kw'amagufwa, Indwara y'uturemangingo, Ubuzima bw'Umwana