I-Osteogenesis egqibeleleyo

I-Osteogenesis imperfecta yimeko ebangela amathambo abuthathaka kakhulu.

I-Osteogenesis imperfecta (OI) ikhona ekuzalweni. Ihlala ibangelwa sisiphene kwimfuza evelisa uhlobo lwe-collagen yokuqala, ibhloko yokwakha ebalulekileyo yethambo. Zininzi iziphene ezinokuchaphazela le geni. Ubungqongqo be-OI buxhomekeke kwisiphene esithile semfuza.

Ukuba unayo ikopi enye yemfuza, uya kuba nesi sifo. Uninzi lweziganeko ze-OI zizuzwe njengelifa kumzali. Nangona kunjalo, ezinye iimeko ziziphumo zotshintsho kwimfuza.

Umntu one-OI unethuba lama-50% lokudlulisela imfuza kunye nesifo ebantwaneni bakhe.

Bonke abantu abane-OI banamathambo abuthathaka, kwaye ukwaphuka kunokwenzeka. Abantu abane-OI bahlala bephantsi kobude obuqhelekileyo (ubude obufutshane). Nangona kunjalo, ubuzaza besifo buyahluka kakhulu.

Iimpawu zakudala zibandakanya:

• Umbala oluhlaza okwesibhakabhaka kwabamhlophe ngamehlo abo (i-blue sclera)
• Amathambo amaninzi aphuka
• Ukuphulukana nokuva kwangoko (isithulu)

Ngenxa yokuba uhlobo I-collagen lukwafunyanwa kwimigudu, abantu abane-OI bahlala benamalungu akhululekileyo (hypermobility) kunye neenyawo ezisicaba. Ezinye iintlobo ze-OI zikhokelela kuphuhliso lwamazinyo amdaka.

Iimpawu zeendlela ezinzima ze-OI zinokubandakanya:

• Uthobise imilenze neengalo
• Kyphosis
• I-Scoliosis (S-curve umqolo)

I-OI ihlala ikrokrelwa ebantwaneni abanamathambo aphuka ngamandla amancinci. Uvavanyo lomzimba lunokubonisa ukuba abamhlophe bamehlo abo banombala oluhlaza okwesibhakabhaka.

Ukuxilongwa ngokuqinisekileyo kunokwenziwa kusetyenziswa i-biopsy yesikhumba. Amalungu osapho anokunikwa uvavanyo lwegazi lwe-DNA.

Ukuba kukho imbali yosapho ye-OI, isampulu ye-chorionic villus inokwenziwa ngexesha lokukhulelwa ukumisela ukuba umntwana unayo na imeko. Nangona kunjalo, ngenxa yokuba utshintsho oluninzi olwahlukileyo lunokubangela i-OI, ezinye iifom azinakufunyaniswa ukuba zinovavanyo lofuzo.

Uhlobo olomeleleyo lohlobo II OI lunokubonwa kwi-ultrasound xa umbungu umncinci njengeeveki ezili-16.

Alukabikho unyango lwesi sifo. Nangona kunjalo, unyango oluthile lunokunciphisa iintlungu kunye neengxaki ezivela kwi-OI.

Iziyobisi ezinokunyusa amandla kunye nokuxinana kwethambo zisetyenziswa kubantu abane-OI. Baye baboniswa ukunciphisa iintlungu zethambo kunye nenqanaba lokwaphuka (ngakumbi kumathambo omqolo). Babizwa ngokuba zii-bisphosphonates.

Ukuzivocavoca okunempembelelo ephantsi, njengokuqubha, gcina izihlunu zomelele kwaye uncede ukugcina amathambo omelele. Abantu abane-OI banokuzuza kwezi ziqhelaniso kwaye kufuneka bakhuthazwe ukuba bazenze.

Kwiimeko ezinzima kakhulu, utyando lokufaka iintsimbi emathanjeni amade emilenze lunokuqwalaselwa. Le nkqubo inokuqinisa ithambo kunye nokunciphisa umngcipheko wokophuka. Ukuqiniswa kwe-bracing kunokunceda abanye abantu.

Utyando lunokufuneka ukulungisa naziphi na iziphene. Olu nyango lubalulekile kuba iziphene (ezinje ngemilenze egobileyo okanye ingxaki yomqolo) zinokuphazamisa amandla omntu okuhamba okanye okuhamba.

Nokuba unyango luthando luya kubakho. Uninzi lwamaqhekeza luphola ngokukhawuleza. Ixesha kwisamente kufuneka lilinganiselwe, kuba ukulahleka kwethambo kunokwenzeka xa ungasebenzisi ilungu lomzimba kangangexesha elithile.

Uninzi lwabantwana abane-OI baba neempawu zomzimba njengoko bengena kwiminyaka yabo yokufikisa. Unontlalontle okanye ugqirha wezengqondo unokubanceda ukuba baziqhelanise nobomi kunye ne-OI.

Ukusebenza kakuhle komntu kuxhomekeke kuhlobo lwe-OI anayo.

• Uhlobo I, okanye i-OI enobumnene, yeyona fomu ixhaphakileyo. Abantu abanolu hlobo banokuphila ubomi obuqhelekileyo.
• Uhlobo lwe-II luhlobo oluqatha oluhlala lukhokelela ekufeni kunyaka wokuqala wobomi.
• Uhlobo lwe-III lukwabizwa ngokuba yi-OI ebukhali. Abantu abanolu hlobo banamaqhekeza amaninzi aqala kakhulu ebomini kwaye banokuba neziphene ezinzima kwithambo. Abantu abaninzi kufuneka basebenzise isitulo esinamavili kwaye bahlala benamaxesha afutshane okuphila.
• Uhlobo lwe-IV, okanye i-OI ngokungqongqo, iyafana nohlobo I, nangona abantu abanoluhlobo IV bahlala befuna iibhrashi okanye iintonga zokuhamba. Ukulindela ubomi kuqhelekile okanye kufutshane nesiqhelo.

Kukho ezinye iindidi ze-OI, kodwa zivela kunqabile kwaye uninzi lwazo zithathwa njengee-subtypes zohlobo olunzima (uhlobo IV).

Iingxaki zixhomekeke ikakhulu kuhlobo lwe-OI ekhoyo. Zihlala zihambelana ngokuthe ngqo kwiingxaki ezinamathambo abuthathaka kunye nokwahlukana okuninzi.

Iingxaki zinokubandakanya:

• Ukuva ilahleko (eqhelekileyo kuhlobo I nohlobo III)
• Ukusilela kwentliziyo (uhlobo II)
• Iingxaki zokuphefumla kunye ne-pneumonia ngenxa yokukhubazeka kodonga lwesifuba
• Intambo yomqolo okanye iingxaki zobuchopho
• Isiphene esisigxina

Iifom ezinobuzaza zihlala zixilongwa kwasekuqaleni kobomi, kodwa iimeko ezinobulali azinakuqatshelwa kude kube kamva ebomini. Jonga umboneleli wakho wezempilo ukuba wena okanye umntwana wakho uneempawu zeli meko.

Ukucebisa ngemfuza kuyacetyiswa kwizibini ezithi ziqwalasele ukukhulelwa ukuba kukho imbali yobuqu okanye yosapho yale meko.

Isifo samathambo; Isifo azalwa naso; OI

• I-Pectus excavatum

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