I-Osteogenesis Imperfecta (i-OI), ebizwa ngokuba yi-brittle bone disease, isifo esibangela isiphako kwimveliso ye-collagen protein. I-Collagen yiprotheyini ebalulekileyo ekunceda ukuxhasa umzimba; Cinga nje nge-scaffold apho umzimba wakhiwe khona. Kukho iintlobo ezininzi ze-collagen, ubuninzi bezinto eziluhlobo lwe-collagen.
Thayipha i-collagen itholakala kwithambo, i- sclera yeso, iigaments, namazinyo.
I-Osteogenesis imperfecta iyenzeka xa kukho isiphako kwimihlobo ye-collagen yokuvelisa.
Ufumana njani i-Osteogenesis Imperfecta?
I-Osteogenesis imperfecta ingenxa yokuguquka kwemfuyo kwimfuza elawula umzimba ukuba ivelise i-collagen. I-Osteogenesis imperfecta inokudluliselwa kumzali onesi sifo, okanye inokuthi ibe yinto yokuguquka komntwana. Uninzi lweziganeko ze-osteogenesis imperfecta ezidlulileyo kubazali zibangelwa ukuguquka okukhulu , okuvela kumzali omnye osteogenesis imperfecta, nangona inani elincinci lamatyala libangelwa ukutshintshiselana ngokugqithisileyo kwaye luvela kwimvelaphi evela kubazali bobabini, isifo.
Izimpawu kunye neMpawu
Iingxaki eziqhelekileyo ezibonwa kwizigulane ezine-osteogenesis imperfecta ziquka ukuhlukana kwethambo, ubude obufutshane, ubude be-scoliosis, iziphene zinozinyo, ukuphulwa kweendlebe, i-sclera ye-bluish, kunye nemigqa evulekile. I-Osteogenesis imperfecta ifana negama layo eliqhelekileyo, isifo sesifuba esisisigxina kuba aba bantwana bavame ukuxilongwa emva kokugcina amathambo amaninzi aphukile .
Izimpawu ze-osteogenesis imperfecta ziyahluka kakhulu phakathi kwabantu. Abanye abantwana banokufumanisa ukuba babeselula kakhulu, ngelixa abanye banokuba nzima ukuba bafumane imeko. Ukuphulwa kwamanani amaninzi ngenxa yokulimala kwamandla amancinci kufuneka kuphakanyiswe ukungathandabuzeki kwimeko ephantsi njenge-osteogenesis imperfecta.
Ngokwesiko, i-osteogenesis imperfecta yahlulwa ibe yindidi emine ephezulu:
- Uhlobo I: ifom elula kakhulu; kubonwa kwizingane ezineminyaka engama-11 ubudala
- Uhlobo II: olubulalayo ekuzalweni
- Uhlobo lwe-III: lubonwa ngexesha lokuzalwa; ezininzi iziqhekeza; kaninzi akakwazi ukuhamba
- Uhlobo IV: ubunzima phakathi kohlobo I kunye nohlobo III
Kule minyaka elishumi edlulileyo, iintlobo ezongezelelweyo ze-osteogenesis ziye zachazwa. Okwangoku, kukho iintlobo ezi-8 ze-osteogenesis imperfecta.
Unyango
Okwangoku, akukho nonyango eyaziwayo ye-osteogenesis imperfecta. Injongo ephambili yonyango kukukhusela ukulimala nokugcina amathambo enempilo. Ukuqinisekisa ukuba abantwana abane-osteogenesis imperfecta badla ukutya okunomsocoko, bavame ukuzivocavoca rhoqo, kwaye bagcine ubunzima obuphilileyo bubaluleke kakhulu. Ngokuqhelekileyo abantwana abane-osteogenesis imperfecta baya kufuna iimpahla ezincedisayo, izibhondi okanye izihlalo zamasondo.
Unyango lwe-osteogenesis imperfecta unyango luphandle ngokuxhomekeka kwimeko kunye nobudala bomguli. Kubantwana abancinci kakhulu, ukuphuka kwezinto ezininzi kuphathwa ngokufanayo, njengokungathi umntwana wayengenayo imeko. Nangona kunjalo, ukuzinzisa ukuzinza kwezinto eziqhekezayo kubonakala ngokuqhelekileyo, kwanokuba usencinane.
Amathambo aphukileyo kubantwana abane-osteogenesis imperfecta bahlala bephathwa ngokuhlinzwa ukuze bazinze amathambo kunye nokukhusela ukukhubazeka.
I-intramedullary rodding , apho intonga yentsimbi ifakwe kwisibonda esingenalutho sethambo , isoloko isetyenziselwa ukuncedisa ithambo elincinci kwaye likhusele ukubola kwethambo. I-Scoliosis ivame ukuphathwa kakubi njengoko ingxaki iqhuba inkqubela kubantwana abane-osteogenesis imperfecta.
Indima yonyango ekwenzeni unyango lwe-osteogenesis imperfecta iyavela, kodwa uphando lwangoku lubonisa inzuzo yonyango kunye ne- bisphosphonates kunye ne- calcium supplement . Ingqiqo kukuba olu unyango luya kuqinisa ithambo kwaye linciphise ukuphindaphinda kwamafracture. Uphando luqhutyelwa ekusebenziseni i-hormone yokukhula kunye nemithi yokwelapha.
Imithombo:
Burnei G, et al. "I-Osteogenesis Imperfecta: Ukuxilongwa kunye noTyango" J. Am. Acad. IOrn. Ukugula, ngoJuni 2008; 16: 356 - 366.