I-Osteogenesis imperfecta: kuyini, izinhlobo nokwelashwa

-Delile

• Izinhlobo eziyinhloko
• Yini ebangela i-osteogenesis imperfecta
• Izimpawu ezingenzeka
• Ungakuqinisekisa kanjani ukuxilongwa
• Yiziphi izinketho zokwelashwa
• Ungazinakekela kanjani izingane ezine-osteogenesis imperfecta

I-Osteogenesis imperfecta, eyaziwa nangokuthi isifo samathambo engilazi, yisifo sofuzo esingavamile kakhulu esidala ukuthi umuntu akhubazeke, abe namathambo amafushane futhi abe ntekenteke kakhudlwana, abe sengozini yokuqhekeka njalo.

Lokhu kuncipha kubonakala kungenxa yesici sofuzo esithinta ukukhiqizwa kohlobo 1 lwe-collagen, ekhiqizwa ngokwemvelo ngama-osteoblasts futhi esiza ukuqinisa amathambo namalunga. Ngakho-ke, umuntu one-osteogenesis imperfecta usevele uzelwe enaleso simo, futhi angaletha amacala okwephuka okuvamile ebuntwaneni, isibonelo.

Yize i-osteogenesis imperfecta ingakalapheki, kunezindlela ezithile zokwelapha ezisiza ukuthuthukisa ikhwalithi yempilo yomuntu, zinciphise ubungozi kanye nobuningi bokuphuka.

Izinhlobo eziyinhloko

Ngokwesigaba sikaSillence, kunezinhlobo ezi-4 ze-osteogenesis imperfecta, ezibandakanya:

• Thayipha I: kuyisimo esivame kakhulu futhi esilula kunazo zonke zalesi sifo, esidala ukusilela kwamathambo kancane noma cha. Kodwa-ke, amathambo abuthakathaka futhi angaqhekeka kalula;
• Uhlobo II: luhlobo olubi kakhulu lwesifo olwenza ukuthi umbungu uqhekeke ngaphakathi kwesibeletho sikamama, okuholela ekukhishweni kwezisu ezimweni eziningi;
• Uhlobo III: abantu abanalolu hlobo, imvamisa, abakhuli ngokwanele, ukukhubazeka okukhona emgogodleni futhi abamhlophe bamehlo bangabonisa umbala ompunga;
• Uhlobo IV: uhlobo olulinganiselayo lwesifo, lapho kunokukhubazeka okuncane emathanjeni, kepha akukho shintsho lombala engxenyeni emhlophe yamehlo.

Ezimweni eziningi, i-osteogenesis imperfecta idlulela ezinganeni, kepha izimpawu nobukhulu besifo kungahluka, ngoba uhlobo lwesifo lungashintsha kusuka kubazali kuye ezinganeni.

Yini ebangela i-osteogenesis imperfecta

Isifo samathambo engilazi sivela ngenxa yokuguqulwa kofuzo kuhlobo olubhekele ukukhiqiza uhlobo 1 lwe-collagen, iphrotheni enkulu esetshenziselwa ukudala amathambo aqinile.

Njengoba kungukushintsha kwezakhi zofuzo, i-osteogenesis imperfecta ingadlulela isuka kubazali iye ezinganeni, kepha futhi ingavela ngaphandle kwamanye amacala emndenini, ngenxa yokuguquka kwesimo ngesikhathi sokukhulelwa, ngokwesibonelo.

Izimpawu ezingenzeka

Ngaphezu kokubangela izinguquko ekwakhekeni kwamathambo, abantu abane-osteogenesis imperfecta bangaba nezinye izimpawu ezinjengalezi:

• Amalunga axegayo;
• Amazinyo abuthakathaka;
• Umbala we-Bluish omhlophe wamehlo;
• Ukugobeka okungavamile komgogodla (scoliosis);
• Ukulahlekelwa ukuzwa;
• Izinkinga zokuphefumula njalo;
• Mfushane;
• I-hernias enguinal kanye ne-umbilical;
• Ukuguqulwa kwama-valve enhliziyo.

Ngaphezu kwalokho, ezinganeni ezine-osteogenesis imperfecta, kutholakala nezinkinga zenhliziyo, ezingagcina zisongela impilo.

Ungakuqinisekisa kanjani ukuxilongwa

Ukuxilongwa kwe-osteogenesis imperfecta, kwezinye izimo, kungenziwa ngisho nangesikhathi sokukhulelwa, inqobo nje uma kunengozi enkulu yokuthi ingane izalwe inaleso simo. Kulezi zimo, kuthathwa isampula entanjeni lapho i-collagen ekhiqizwa khona ngamangqamuzana ombungu phakathi kwamasonto ayishumi kuya kwayi-12 okukhulelwa ihlaziywa. Enye indlela engahlaseli kangako ukwenza i-ultrasound ukukhomba ukuphuka kwamathambo.

Ngemuva kokuzalwa, ukuxilongwa kungenziwa udokotela wezingane noma udokotela wamazinyo wezingane, ngokubheka izimpawu, umlando womndeni noma ngokuhlolwa okufana ne-X-ray, ukuhlolwa kofuzo nokuhlolwa kwegazi ngamakhemikhali.

Yiziphi izinketho zokwelashwa

Akukho ukwelashwa okuqondile kwe-osteogenesis imperfecta, ngakho-ke, kubalulekile ukuthola ukuqondiswa kudokotela wamathambo. Imvamisa izidakamizwa ze-bisphosphonate zisetshenziselwa ukusiza ukwenza amathambo aqine futhi kunciphise ubungozi bokuphuka. Kodwa-ke, kubaluleke kakhulu ukuthi lolu hlobo lwezokwelapha luhlolwe njalo ngudokotela, njengoba kungadingeka ukulungisa imithamo yokwelashwa ngokuhamba kwesikhathi.

Lapho kuvela ama-fracture, udokotela angahle akhubaze ithambo ngo-cast noma akhethe ukuhlinzwa, ikakhulukazi maqondana nokuqhekeka okuningi noma okuthatha isikhathi eside ukuphola. Ukwelashwa kokuqhekeka kuyafana nokwabantu abangenaso isimo, kepha isikhathi sokuncishiswa komzimba sivame ukuba sifushane.

I-Physiotherapy ye-osteogenesis imperfecta nayo ingasetshenziswa kwezinye izimo ukusiza ukuqinisa amathambo nemisipha ewasekelayo, kunciphise ubungozi bokuqhekeka.

Ungazinakekela kanjani izingane ezine-osteogenesis imperfecta

Ezinye izinyathelo zokunakekela izingane ezine-osteogenesis engaphelele yilezi:

• Gwema ukuphakamisa ingane ngemakhwapheni, ukusekela isisindo ngesandla esisodwa ngaphansi kwesinqe nesinye ngemuva kwentamo namahlombe;
• Musa ukudonsa ingane ngengalo noma ngomlenze;
• Khetha isihlalo sokuphepha esine-padding ethambile evumela ukuthi ingane isuswe futhi ibekwe ngomzamo omncane.

Ezinye izingane ezine-osteogenesis engaphelele zingenza ukuzivocavoca okulula, njengokubhukuda, njengoba zisiza ukunciphisa ubungozi bokuqhekeka. Kodwa-ke, kufanele benze lokho kuphela ngemuva kokuqondiswa ngudokotela nangaphansi kokuqondiswa nguthisha wezemfundo yokuzivocavoca noma owelapha ngokomzimba.