I-Osteogenesis Imperfecta (OI), evame ukubizwa ngokuthi i-brittle bone disease, yisifo esibangela isici ekukhiqizeni i-collagen protein. I-Collagen iyiprotheni ebalulekile esiza ukusekela umzimba; cabanga ngakho njenge-scaffold lapho umzimba wakhiwe khona. Kunezinhlobo eziningana ze-collagen, okuningi kakhulu okungafani nohlobo lwe-collagen.
Thayipha I-collagen itholakala kuthethini, isikhala sehlo, imilenze, namazinyo.
I-Osteogenesis imperfecta yenzeka uma kunesici ekukhiqizeni uhlobo lwe-collagen.
Uthola kanjani i-Osteogenesis Imperfecta?
I-Osteogenesis imperfecta ingenxa yokuguqulwa kwezakhi zofuzo ezithinta umzimba ukukhiqiza i-collagen. I-Osteogenesis imperfecta ingadluliselwa kumzali ophethe lesi sifo, noma ingenzeka njengenguquko yokuzenzekela enganeni. Amacala amaningi e-osteogenesis imperfecta adluliselwa kubazali ngenxa yokuguquka okukhulu , okuvela kumzali oyedwa osteogenesis imperfecta, nakuba inamba encane yamacala ngenxa yokuguqulwa okuguquguqukayo futhi iphuma esakhiweni kubazali bobabili, izifo.
Izimpawu Nezibonakaliso
Izinkinga ezijwayelekile ezitholakala ezigulini ezine-osteogenesis imperfecta zihlanganisa ukwehlukana kwamathambo, ubude obufushane, i-scoliosis, ukukhubazeka kwezinyo, ukulahlekelwa kwezindlebe, i-bluish sclera, nemigqa engavamile. I-Osteogenesis imperfecta ithola igama layo elivame kakhulu, isifo sofuba esibangele ngoba lezi zingane zivame ukutholakala ngemva kokusekela amathambo amaningi aphukile .
Izimpawu ze-osteogenesis imperfecta zihluka kakhulu phakathi kwabantu. Ezinye izingane ziyatholakala ukuthi zisencane kakhulu empilweni, kanti ezinye zingase zibe nzima kakhulu ukuthola isimo. Ukuhlukana okuningi ngenxa yokulimala kwamandla okuphansi kufanele kuphakamise ukusola kwesimo esibhekene naso njenge-osteogenesis imperfecta.
Ngokwesiko, i-osteogenesis imperfecta yahlukaniswa ibe yizigaba ezine ezinkulu:
- Thayipha I: ifomu eliphansi kakhulu; kubonakala ezinganeni ezindala zasenkulisa
- Uhlobo II: olubulalayo ekuzalweni
- Uhlobo lwe-III: kubonakala ngesikhathi sokuzalwa; ukuhlukana okuningi; ngokuvamile akakwazi ukuhamba
- Uhlobo IV: ubuqili phakathi kohlobo I nohlobo III
Kule minyaka eyishumi eyedlule, izinhlobo ezengeziwe ze-osteogenesis nazo zichazwe. Njengamanje, kunezinhlobo ezingu-8 ze-osteogenesis imperfecta.
Ukwelapha
Njengamanje, ayikho ikhambi elaziwa le-osteogenesis imperfecta. Ukugxila okuyinhloko kokwelashwa kukuvimbela ukulimala nokugcina amathambo enempilo. Ukuqinisekisa ukuthi izingane ezine-osteogenesis imperfecta zidla ukudla okunomsoco, zivivinya umzimba njalo futhi zigcine isisindo esinempilo sibaluleke kakhulu. Ngokuvamile izingane ezine-osteogenesis imperfecta zizodinga usizo lwezimoto, amabhande noma izihlalo zabakhubazekile.
Ukuphathwa ukwelashwa kwe-osteogenesis imperfecta kuncike ebukhulu besimo kanye nobudala besiguli. Ezinganeni ezincane kakhulu, ukuphuka okuningi kuphathwa ngendlela efanayo, njengokungathi ingane ayinayo isimo esibucayi. Kodwa-ke, ukuqiniswa kokuphuka kweziphuka kuba yinto evame kakhulu, ngisho nasencane.
Amathambo aphukile ezinganeni ezine-osteogenesis imperfecta zivame ukuphathwa ngokuhlinzwa ukuze zizinze amathambo futhi zivimbele ukukhubazeka.
I-intramedullary rodding , lapho intonga yensimbi ibekwe khona esikhungweni esingenalutho sethambo , ivame ukusetshenziselwa ukusekela ithambo elithekile futhi livimbele ukubola kwethambo. Ukuqothuka kwesibindi kuvame ukuphathwa kabi njengoba inkinga iqala ukuqhubeka ezinganeni ezine-osteogenesis imperfecta.
Indima yemithi ekwelapheni i-osteogenesis imperfecta iyashintsha, kodwa ucwaningo lwamuva lubonisa inzuzo yokwelapha nge- bisphosphonates ne- calcium supplements . Isizathu sokuthi lezi zindlela zokwelapha zizoqinisa ithambo futhi zinciphise ukuvama kwezinkinga. Ucwaningo luqhutshwa nasekusetshenzisweni kwamahomoni okukhula kanye nemithi yokwelapha.
Imithombo:
UBurnei G, et al. "Osteogenesis Imperfecta: Ukuxilongwa Nokunakekelwa" J. Am. I-Acad. I-Ortho. Ukuhlinzwa, ngoJuni 2008; 16: 356 - 366.