I-Osteogenesis imperfecta

I-Osteogenesis imperfecta yisimo esidala amathambo entekenteke ngokweqile.

I-Osteogenesis imperfecta (OI) ikhona lapho izalwa. Kuvame ukubangelwa ukukhubazeka esakhiweni esikhiqiza uhlobo 1 i-collagen, isakhiwo esibalulekile sethambo. Kunokukhubazeka okuningi okungathinta le geni. Ubukhulu be-OI buxhomeke kusici esithile sofuzo.

Uma unekhophi e-1 yofuzo, uzoba nalesi sifo. Izimo eziningi ze-OI zizuzwa njengefa kumzali. Kodwa-ke, amanye amacala angumphumela wokuguqulwa okusha kwezakhi zofuzo.

Umuntu one-OI unethuba elingama-50% lokudlulisela ufuzo nalesi sifo ezinganeni zabo.

Bonke abantu abane-OI banamathambo abuthakathaka, futhi ukuphuka kunamathuba amaningi. Abantu abane-OI imvamisa bangaphansi kobude obumaphakathi (isiqu esifushane). Kodwa-ke, ubukhulu besifo buhluka kakhulu.

Izimpawu zakudala zifaka:

• Umbala oluhlaza okwesibhakabhaka kwabamhlophe bamehlo abo (i-blue sclera)
• Ukuqhekeka kwamathambo amaningi
• Ukulahlekelwa kokuzwa kusenesikhathi (isithulu)

Ngoba i-collagen yohlobo I iyatholakala futhi emigudwini, abantu abane-OI bavame ukuba namajoyini avulekile (ukungabi namandla) nezinyawo eziyisicaba. Ezinye izinhlobo ze-OI nazo ziholela ekwakhekeni kwamazinyo amabi.

Izimpawu zezinhlobo ezinzima kakhulu ze-OI zingafaka:

• Ukhothamele imilenze nezingalo
• UKyphosis
• I-Scoliosis (umgogodla we-S-curve)

I-OI ivame ukusolwa ezinganeni ezinamathambo aphuka ngamandla amancane kakhulu. Ukuhlolwa ngokomzimba kungakhombisa ukuthi abamhlophe bamehlo abo banombala oluhlaza okwesibhakabhaka.

Ukuxilongwa okucacile kungenziwa kusetshenziswa i-biopsy yesikhumba se-punch. Amalungu omndeni angahlolwa i-DNA.

Uma kunomlando womndeni we-OI, isampuli ye-chorionic villus ingenziwa ngesikhathi sokukhulelwa ukuthola ukuthi ingane inaleso sifo yini. Kodwa-ke, ngoba ukuguqulwa okuningi okuhlukahlukene kungadala i-OI, ezinye izinhlobo azikwazi ukutholakala zinokuhlolwa kofuzo.

Isimo esibi sohlobo II OI singabonakala kwi-ultrasound lapho i-fetus isencane njengamasonto ayi-16.

Alikakabi khona ikhambi lalesi sifo. Kodwa-ke, izindlela ezithile zokwelapha zinganciphisa ubuhlungu nezinkinga ezivela ku-OI.

Izidakamizwa ezingakhuphula amandla nokuqina kwethambo zisetshenziswa kubantu abane-OI. Kuboniswe ukuthi kunciphisa ubuhlungu bamathambo nezinga lokuphuka (ikakhulukazi emathanjeni omgogodla). Babizwa ngokuthi ama-bisphosphonates.

Ukuzivocavoca okunomthelela ophansi, njengokubhukuda, kugcina imisipha iqinile futhi kusize ukugcina amathambo aqinile. Abantu abane-OI bangazuza kulezi zivivinyo futhi kufanele bakhuthazwe ukuba bazenze.

Ezimweni ezinzima kakhulu, kungacatshangelwa ukuhlinzwa okufaka izinduku zensimbi emathanjeni amade emilenze. Le nqubo ingaqinisa ithambo futhi inciphise ingozi yokuphuka. Ukubopha ibhande kungasiza nabanye abantu.

Ukuhlinzwa kungadingeka ukulungisa noma yikuphi ukukhubazeka. Lokhu kwelashwa kubalulekile ngoba ukukhubazeka (okufana nemilenze egobile noma inkinga yomgogodla) kungaphazamisa ikhono lomuntu lokuhamba noma ukuhamba.

Ngisho nangokwelashwa, ama-fractures azokwenzeka. Ukwephuka okuningi kuphulukisa ngokushesha. Isikhathi ekubunjweni kufanele silinganiselwe, ngoba ukulahleka kwethambo kungenzeka lapho ungasebenzisi ingxenye ethile yomzimba wakho isikhathi esithile.

Izingane eziningi ezine-OI ziba nezinkinga zesimo somzimba njengoba zingena eminyakeni yazo yobusha. Usonhlalonhle noma isazi sokusebenza kwengqondo singabasiza bazijwayeze impilo ne-OI.

Ukuthi umuntu wenza kahle kangakanani kuya ngohlobo lwe-OI analo.

• Uhlobo I, noma i-OI emnene, yiyona fomu ejwayelekile kakhulu. Abantu abanalolu hlobo bangaphila impilo ejwayelekile.
• Uhlobo II luyindlela ebucayi evame ukuholela ekufeni ngonyaka wokuqala wokuphila.
• Uhlobo lwe-III lubizwa nangokuthi i-OI enamandla. Abantu abanalolu hlobo banokuphuka okuningi okuqala kakhulu empilweni futhi bangakhubazeka kakhulu emathanjeni. Abantu abaningi badinga ukusebenzisa isihlalo sabakhubazekile futhi bavame ukuba nesikhathi esifushane sokuphila.
• Uhlobo IV, noma i-OI enamandla kakhulu, iyafana nohlobo I, yize abantu abanehlobo IV bavame ukudinga izinduku noma izinduku zokuhamba. Isikhathi sokuphila sivamile noma siseduze nokujwayelekile.

Kukhona ezinye izinhlobo ze-OI, kepha zivela kancane kakhulu futhi eziningi zibhekwa njengama-subtypes efomu elibi kakhulu (uhlobo IV).

Izinkinga ikakhulukazi zisuselwa ohlotsheni lwe-OI olukhona. Imvamisa zihlobene ngqo nezinkinga ezinamathambo abuthakathaka nokuqhekeka okuningi.

Izinkinga zingafaka:

• Ukulahlekelwa ukuzwa (okuvamile ngohlobo I nohlobo III)
• Ukwehluleka kwenhliziyo (uhlobo II)
• Izinkinga zokuphefumula nezinyumoniya ngenxa yokukhubazeka kodonga lwesifuba
• Intambo yomgogodla noma izinkinga zobuchopho
• Ukukhubazeka unomphela

Izinhlobo ezinamandla zivame ukutholakala zisencane, kepha amacala amancane angaqashelwa kuze kube kamuva empilweni. Bheka umhlinzeki wakho wezokunakekelwa kwezempilo uma wena noma ingane yakho unezimpawu zalesi simo.

Ukwelulekwa ngofuzo kunconywa imibhangqwana ecabangela ukukhulelwa uma kunomlando womuntu siqu noma womndeni walesi simo.

Isifo samathambo esibuhlungu; Isifo sokuzalwa; OI

• I-Pectus excavatum

UDeeney VF, u-Arnold J. Orthopedics. Ku: Zitelli BJ, McIntire SC, Nowalk AJ, ama-eds. UZitelli noDavis ’Atlas of Pediatric Physical Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 22.

UMarini JC. I-Osteogenesis imperfecta. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 721.

Indodana-Hing JP, Thompson GH. Ukungajwayelekile kokuzalwa kwemikhawulo ephezulu nangaphansi nomgogodla. Ku: Martin RJ, Fanaroff AA, Walsh MC, ama-eds. UFanaroff kanye neMithi kaMartin's Neonatal-Perinatal Medicine. Umhla ka-11. IPhiladelphia, PA: Elsevier; 2020: isahluko 99.