Ingabe amathambo akho aphuka kalula? Ake sixoxe nge-Osteogenesis Imperfecta, noma isifo samathambo aqhekekayo!

Wake wezwa ngabantu abazalwa benamathambo abuthakathaka kakhulu, amathambo abo aphuka kalula? Mhlawumbe othile emndenini wakho, noma ingane yomngane, unalesi simo. Kuyadabukisa ngempela futhi kuyinselele. Namuhla sizokhuluma ngalesi 'sifo samathambo esibuthakathaka', noma ngokwezokwelapha, i-Osteogenesis Imperfecta (OI) .

Kuyini i-Osteogenesis Imperfecta?

Kalula nje, i-osteogenesis imperfecta yisifo esithinta izicubu zomzimba wethu. Lokhu kubangela amathambo akho ukuba abe buthakathaka kakhulu. Lokhu kusho ukuthi angaphuka ngaphandle kokuthintana okukhulu, ngezinye izikhathi ngaphandle kwesizathu nhlobo.

Isizathu esiyinhloko salokhu ukuthi imizimba yethu ayikhiqizi iphrotheni eyanele ebizwa ngokuthi i-Type I Collagen , noma ikhiqiza i-collagen engakhekanga kahle. Cabanga ngale ndlela, i-collagen ifana neglue emizimbeni yethu. Le collagen ibaluleke kakhulu ekwakheni isakhiwo samathambo ethu, isikhumba, imisipha, imisipha, njll., futhi iwagcine eqinile. Ngakho-ke, uma le collagen ingakhiqizwa kahle, amathambo aba buthakathaka. Igama elithi "osteogenesis imperfecta" lisho "amathambo angakhekanga kahle."

Ngenxa yalokhu, abantu abanalesi sifo abagcini nje ngokubhekana nokuphuka kwamathambo njalo empilweni yabo yonke, kodwa futhi bangaba nezinkinga nezinye izingxenye zomzimba wabo, njengamazinyo abo, isikhumba, umgogodla namaphaphu.

Izimpawu zohlobo oluvame kakhulu lwalesi sifo ngokuvamile zincane, kodwa ezinye izinhlobo ezinzima zingabangela izinkinga ezinkulu.

Yiziphi izinhlobo eziyinhloko ze-osteogenesis imperfecta (OI)?

Nakuba odokotela behlukanisa i-OI ngezinhlobo ezingaba ngu-19 (izinhlobo I kuya ku-XIX), sivame ukukhuluma ngezinhlobo I, II, III, kanye ne-IV. Lokhu kuhlukaniswa kusekelwe endleleni i-collagen ekhiqizwa ngayo kanye nemiphumela enayo emzimbeni.

• Uhlobo I:

Lolu uhlobo oluvame kakhulu, olunezimpawu ezimbalwa kakhulu. Abantu abane-OI baphuka amathambo abo kalula kunabantu abangenayo i-OI. Kodwa-ke, lokhu kuphuka kuvame ukwenzeka ngaphambi kokuthomba . Lolu hlobo alubangeli ukukhubazeka okukhulu kwamathambo. Abanye abantu bangase babe nombala oluhlaza okwesibhakabhaka kumhlophe wamehlo abo, obizwa ngokuthi i-sclerae . Lokhu kubizwa nangokuthi "i-classic non-deformative osteogenesis imperfecta ene-blue sclera."

• Uhlobo II:

Lolu uhlobo lwe-OI olubi kakhulu noluyingozi kakhulu. Kulesi simo, amaphaphu awakhuli kahle (ngoba ikheji lezimbambo alakheki kahle), kwenzeka ukukhubazeka okukhulu kwamathambo, futhi umntwana angase abe namathambo amaningana aphukile ngesikhathi esesesibelethweni, okungukuthi, ngaphambi kokuzalwa. Izingane ezinalolu hlobo ziyafa ngokushesha noma zingakapheli izinsuku ezimbalwa zokuzalwa . Lokhu kubizwa nangokuthi "i-perinatal osteogenesis imperfecta."

• Uhlobo lwesithathu:

Lolu uhlobo lwe-OI olubi kakhulu olungadluliselwa ngemva kokuzalwa. Luphinde lubangele ukukhubazeka okukhulu kwamathambo , okwenza amathambo abe buthaka kakhulu. Lokhu kungaholela ekukhubazekeni okukhulu ngokomzimba. Ngokuvamile, laba bantwana banamathambo aphukile lapho bezalwa. Lokhu kubizwa nangokuthi "i-progressive osteogenesis imperfecta."

• Uhlobo IV:

Lolu hlobo lunzima kakhulu kunohlobo I, kodwa alunzima kangako kunohlobo III. Abantu abanalolu hlobo bangase babe nokukhubazeka kwamathambo okuncane kuya kokuphakathi. Amathambo abuthakathaka kakhulu kunalawo angenayo i-OI, kodwa awaphuki kalula njengalawo anohlobo III. Amhlophe emehlweni angase abe nombala ojwayelekile.

Sivame kangakanani lesi sifo?

I-Osteogenesis imperfecta yisifo esingavamile . Emhlabeni wonke, kulinganiselwa ukuthi lesi simo sithinta cishe umuntu oyedwa kwabangu-20,000.

Ziyini izimpawu ze-osteogenesis imperfecta (OI)?

Ngakho-ke, yiziphi izimpawu zomuntu onalesi sifo? Lezi zimpawu zingahluka kuye ngohlobo lwesifo.

• Amathambo aphuka kalula kakhulu (lesi yisibonakaliso esiyinhloko nesivame kakhulu)
• Ukukhubazeka kwamathambo (isib., imilenze egobile, izingalo)
• Ubuhlungu bethambo
• Amhlophe emehlweni (i-sclerae) aba nombala oluhlaza okwesibhakabhaka, ompunga, noma onsomi.
• Ukulimala kalula
• Ubunzima bokuphefumula
• Ukulahlekelwa ukuzwa - ngezinye izikhathi kungaqala esemncane
• Amalunga axegayo
• Ubuthakathaka bemisipha
• Ukugoba komgogodla - isibonelo, i-hunchback (kyphosis) noma i-sideways of the spine curve (scoliosis)
• Ubude obuncane
• Isimo sobuso obungunxantathu
• Ubuthakathaka bamazinyo, ukuphuka kalula, ukushintsha kombala wamazinyo (mhlawumbe umbala ophuzi onsundu)
• Amazinyo angahlangani kahle (i-Malocclusion)
• Ikheji lezimbambo elimise okwebhareli

Iyini imbangela yalokhu?

Imbangela eyinhloko ye-osteogenesis imperfecta ukuguquka kwezakhi zofuzo . Kalula nje, kuyiphutha elincane epulanini eyisisekelo eyakha imizimba yethu, okungukuthi, ezizakhini zethu zofuzo.

Lokhu kuvame ukubangelwa izinguquko ezakhiweni ezimbili zofuzo ezibizwa ngokuthi i-COL1A1 noma i-COL1A2 . Lezi zakhi zofuzo ezimbili zisiza ekukhiqizeni iphrotheni ebizwa ngokuthi i-Type I Collagen esikhulume ngayo ngaphambili. Ngakho-ke, uma kukhona ushintsho kulezi zakhi zofuzo, umzimba awukhiqizi i-collagen eyanele, noma ikhwalithi ye-collagen ekhiqizwayo iyancipha. Ezinye izinhlobo ezingavamile ze-OI nazo zingabangelwa izinguquko ezakhiweni zezinye izakhi zofuzo ze-collagen.

Lezi zinguquko zofuzo ngezinye izikhathi zingavela ngezikhathi ezithile, okusho ukuthi zenzeka ngokuzumayo. Noma, zingazuzwa njengefa kumzali oyedwa noma bobabili.Abanye abantu bangaba ngabathwali besakhi sofuzo esibangela i-OI. Lokhu kusho ukuthi noma bengenazo izimpawu, bangadlulisela isakhi sofuzo kanye nesifo ezinganeni zabo.

Izinhlobo ezine ezivame kakhulu ze-OI (Izinhlobo I-IV) zizuzwa njengefa ngendlela elawulayo ye-autosomal . Lokhu kusho ukuthi ingane kumele izuze ifa lesakhi sofuzo esinokukhubazeka komunye umzali ukuze ithole lesi sifo. Ezinye izinhlobo ezingavamile zingazuzwa njengefa ngendlela ephindaphindayo ye-autosomal (kudinga ukuthi bobabili abazali bazuze ifa lesakhi sofuzo esinokukhubazeka) noma ngephethini exhunywe ku-X (ezuzwa njengefa nge-chromosome X).

Yiziphi izici eziyingozi ze-osteogenesis imperfecta (OI)?

Empeleni, lesi sifo singavela kunoma ubani lapho ezalwa. Kodwa-ke, uma othile emndenini wakho enalesi sifo, ingozi yakho yokuthola lesi simo iphezulu kakhulu .

Yiziphi izinkinga ezingaba khona ngenxa yalesi sifo?

Izinkinga ziyahlukahluka kuye ngohlobo kanye nobukhali be-OI. Ezinye zazo zifaka:

• Isifo senhliziyo, isibonelo, ukwehluleka kwenhliziyo
• I-pneumonia evame ukwenzeka
• Izinkinga zokuphefumula, mhlawumbe ukwehluleka kokuphefumula
• Izinkinga ezithinta uhlelo lwezinzwa

Odokotela basithola kanjani lesi sifo?

Odokotela bavame ukuxilonga isifo samathambo aphukile, noma i-OI, ebuntwaneni. Ukuhlolwa okuyinhloko kwalokhu yile:

• Ukuhlolwa kofuzo: Lokhu kunganquma ngqo ukuthi kukhona yini iphutha lofuzo elibangela i-OI.
• Ukuhlolwa kokuqina kwamathambo: Lokhu kuhlola ukuqina kwamathambo.

Ngezinye izikhathi, odokotela bangase basole lokhu ngesikhathi sokukhulelwa ngokusekelwe ezicini ezibonwe ku -ultrasound scan yomntwana. Uma lokhu kwenzeka, ukuxilongwa kungaqinisekiswa ngesikhathi sokukhulelwa ngokwenza ukuhlolwa okubizwa ngokuthi i-amniocentesis (lapho kuthathwa khona isampula encane yoketshezi oluzungeze umntwana bese kuhlolwa izakhi zofuzo) noma ngemva kokuzalwa komntwana.

Yiziphi izindlela zokwelapha i-osteogenesis imperfecta (OI)?

Akukho ukwelashwa kwe-OI, kodwa kunezindlela eziningi zokwelapha ezingasiza ekuqiniseni amathambo, ukulawula izimpawu, nokusiza abantu abane-OI ukuba baphile ngokuzimela ngangokunokwenzeka .

Uhlelo lokwelashwa luzohluka kumuntu nomuntu. Lungafaka:

• Ukwelashwa Komsebenzi (OT): Lokhu kusiza ukuthuthukisa amakhono adingekayo ukwenza imisebenzi yansuku zonke, njengokugqoka, ukudla, nokubhala, ngokuzimela.
• Ukwelashwa Komzimba (PT): Lokhu kuhilela ukuzivocavoca okungenamthelela omkhulu okusiza ukuqinisa amathambo nemisipha, ukuthuthukisa ukuhamba, nokugcina ibhalansi yomzimba.
• Amadivayisi okusiza: Abahamba ngezinyawo , Izinduku , Izinduku ZokuqhumisaKungase kudingeke usebenzise izinto ezifana nezinduku zokusibekela .
• Ukunakekelwa komlomo namazinyo: Kufanele ubonane nodokotela wamazinyo njalo ukuze aqaphe futhi elaphe izinkinga zamazinyo akho kanye nomhlathi. Ungadinga ukunakekelwa kwe-orthodontic ukuze uqondise amazinyo akho.
• Ukunakekelwa kokuphefumula: Uma unenkinga yokuphefumula, kungadingeka ukuthi ubonane nodokotela wamaphaphu ukuze uthole ukwelashwa.
• Imithi: Udokotela wakho angase akunike imithi efana nama-bisphosphonates, esiza ekuqiniseni amathambo.
• Ukuhlinzwa: Izinduku zensimbi zingafakwa ngokuhlinzwa ukuze kuqondiswe futhi kuqiniswe amathambo agobile noma akhubazekile.
• Ama-braces, ama-splint, noma ama-cast: Lokhu kusetshenziselwa ukuvikela amathambo aphukile ngenkathi ephola noma ngemva kokuhlinzwa.

Ingakanani iminyaka yokuphila yomuntu one-osteogenesis imperfecta (OI)?

Lokhu kuncike kakhulu ohlotsheni lwe-OI.

• Umuntu onohlobo lwe-Type I , uhlobo oluvame kakhulu noluthambile kakhulu, angaphila impilo ejwayelekile, njengomuntu ongenalo i-OI.
• Nakuba abantu abanohlobo lwe-IV bevame ukuphila baze babe badala, isikhathi sabo sokuphila singase sibe sifushane kancane .
• Njengoba sixoxile ngaphambili, izingane ezinesifo sohlobo lwesibili ziyafa ngokushesha noma zingakapheli izinsuku ezimbalwa zizelwe .

Ingabe lesi sifo singavinjelwa?

I-Osteogenesis imperfecta yisimo sofuzo, ngakho-ke asinakuvinjelwa . Kodwa-ke, uma wena, umlingani wakho, noma othile emndenini wakho ene-OI, kubalulekile ukukhuluma nomeluleki wezakhi zofuzo . Bangakweluleka ngengozi yokudlulisela lesi simo ezinganeni zakho.

Umuntu one-OI angalondoloza kanjani impilo enhle yamathambo?

Uma wena noma ingane yakho ninesifo se-osteogenesis imperfecta, ningenza lezi zinto ukuze nigcine amathambo enu ephilile ngangokunokwenzeka:

• Yidla ukudla okucebile nge-calcium kanye ne-vitamin D. (isib. ubisi, ushizi, iyogathi, imifino eluhlaza, inhlanzi encane, amaqanda aqandayo, ukuchayeka elangeni)
• Yenza umsebenzi womzimba onconywe udokotela wakho. (Ngenxa yeseluleko sikadokotela kuphela!)
• Nciphisa ukusetshenziswa kotshwala kanye ne-caffeine (etholakala etiyeni, ekhofini, kushokoledi).
• Uma ubhema, yeka , futhi ugweme ukuba sezindaweni lapho abanye abantu bebhema khona (ukubhema okubhemayo).
• Nakekela impilo yakho yengqondo futhi . Ikakhulukazi ezinganeni nakubantu abasha, ukukhuluma nosonhlalakahle noma umeluleki ngokucindezeleka kokuphila nesifo esingamahlalakhona esinjengalesi kungaba usizo kakhulu.

Kufanele ngimbone nini udokotela?

Uma wena noma ingane yakho nibona ukuthi amathambo ayo aphuka kalula , ikakhulukazi uma kwenzeka ngaphandle kokulimala okukhulu, noma uma inanoma yiziphi ezinye izimpawu ze-OI esikhulume ngazo, qiniseka ukuthi ubona udokotela. Angancoma ukuhlolwa okwengeziwe uma kudingeka.

Kufanele ngiye nini e-Emergency Treatment Unit (ETU) ?

Uma wena noma ingane yakho iphuka ithambo , iya ekamelweni lezimo eziphuthumayo eliseduze ngokushesha. Tshela nodokotela uma une-osteogenesis imperfecta.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Kungaba usizo ukubuza imibuzo efana nalena uma ubona udokotela wakho:

• Uhlobo luni lwe-osteogenesis imperfecta enginalo/ingane yami?
• Yini okufanele ngiyazi mayelana nobude bempilo yami ngenkathi ngiphila ne-OI?
• Ngingazisiza kanjani mina/ingane yami ukuthi ilawule izimpawu ze-OI?
• Yini okufanele ngiyenze uma mina/ingane yami iphuka ithambo?
• Angakanani amathuba okuba ngibe nomunye umntwana one-osteogenesis imperfecta?

Ingabe umuntu one-osteogenesis imperfecta (OI) angahamba?

Yebo, kungenzeka . Abantu abanezinhlobo ezincane ze-OI bangahamba ngendlela evamile. Abanye kungadingeka basebenzise ama-braces noma izinduku zokusibekela. Ukwelashwa okufana nokwelashwa ngokomzimba (PT) kanye nokwelashwa ngokomsebenzi (OT) okuqalwe kusenesikhathi kungasiza ekuthuthukiseni ikhono lengane yakho lokuhamba.

Kuvamile ukuzizwa ukhungathekile uma uthola ukuthi ingane yakho inesifo esizoyibulala impilo yayo yonke. Ikusasa lingase libukeke lihluke kakhulu kunalokho obukulindele. Kodwa, izinto ezifana nokwelashwa ngokomsebenzi kanye nokwelashwa ngokomzimba eziqala kusenesikhathi zingakusiza wena nengane yakho ukuthi nizivumelanise nalezi zinguquko. Kubalulekile futhi ukukhuluma ngokwethembeka nethimba lezokwelapha lengane yakho kanye nabathandekayo bakho isinyathelo ngasinye. Bangakusiza ukuthi uphathe izimpawu futhi wenze uhlelo lokulungiselela ikusasa.

Ekugcineni, umyalezo okufanele uwuthathe uye ekhaya:

I-Osteogenesis imperfecta iyisimo esiyinselele. Kodwa ungalilahli ithemba . Ukuqaphela lesi simo, ukuthola ukuxilongwa nokwelashwa kusenesikhathi, kanye nokuba nohlelo oluqinile lokusekela kungakusiza ukuthi uphathe izimpawu zakho futhi uphile impilo enhle ngangokunokwenzeka. Khuluma ngokukhululekile ngalokhu nodokotela wakho nomndeni wakho. Awuwedwa.

I- Osteogenesis Imperfecta, Isifo Samathambo Esibhidlikayo, I-Collagen, Ukuphuka Kwamathambo, Isifo Sofuzo, Impilo Yengane