Ingaba amathambo akho aphuka lula? Masithethe nge-Osteogenesis Imperfecta, okanye isifo samathambo abuthathaka!

Ngaba wakha weva ngabantu abazalwa benamathambo abuthathaka kakhulu, amathambo abo aphuka lula? Mhlawumbi kukho umntu kusapho lwakho, okanye umntwana womhlobo, onale meko. Kubuhlungu kakhulu kwaye kunzima. Namhlanje siza kuthetha ngesi 'sifo samathambo abuthathaka', okanye ngokwezonyango, i-Osteogenesis Imperfecta (OI) .

Yintoni i-Osteogenesis Imperfecta?

Ngamafutshane, i-osteogenesis imperfecta sisifo esichaphazela izicwili zomzimba wethu. Oku kubangela ukuba amathambo akho abe buthathaka kakhulu. Oku kuthetha ukuba anokwaphuka ngaphandle kwempembelelo ingako, ngamanye amaxesha ngaphandle kwesizathu konke konke.

Isizathu esiphambili soku kukuba imizimba yethu ayivelisi ngokwaneleyo iproteni ebizwa ngokuba yi-Type I Collagen , okanye ivelisa i-collagen engakhiwanga kakuhle. Cinga ngale ndlela, i-collagen ifana neglu emizimbeni yethu. Le collagen ibaluleke kakhulu ekwakheni isakhiwo samathambo ethu, ulusu, izihlunu, imisipha, njl.njl., kwaye iwagcine eqinile. Ngoko ke, xa le collagen ingaveliswanga kakuhle, amathambo aba buthathaka. Igama elithi "osteogenesis imperfecta" lithetha "amathambo angakhiwanga kakuhle."

Ngenxa yesi sizathu, abantu abanesifo abajongani nje nokuqhekeka kwamathambo rhoqo ubomi babo bonke, kodwa banokuba neengxaki nakwezinye iindawo zomzimba wabo, njengamazinyo abo, ulusu, umqolo, kunye nemiphunga.

Iimpawu zohlobo oluqhelekileyo lwesi sifo zihlala zincinci, kodwa ezinye iintlobo ezinzima zinokubangela iingxaki ezinkulu.

Ziziphi iintlobo eziphambili ze-osteogenesis imperfecta (OI)?

Nangona oogqirha bahlula i-OI kwiintlobo ezili-19 (iintlobo ukusuka kwi-I ukuya kwi-XIX), sihlala sithetha ngeentlobo I, II, III, kunye ne-IV. Olu hlu lusekelwe kwindlela eveliswa ngayo i-collagen kunye nemiphumo enayo emzimbeni.

• Uhlobo lokuQala:

Olu lolona hlobo luxhaphakileyo, oluneempawu ezimbalwa. Abantu abane-OI baphuka amathambo abo lula kunabantu abangenayo i-OI. Nangona kunjalo, la maqhekeza adla ngokuvela ngaphambi kokuba bafikise ebusheni . Olu hlobo alubangeli ukukhubazeka okukhulu kwamathambo. Abanye abantu banokuba nombala oluhlaza okwesibhakabhaka kumhlophe emehlweni abo, obizwa ngokuba yi-sclerae . Oku kukwabizwa ngokuba yi-"classic non-deformative osteogenesis imperfecta ene-blue sclera."

• Uhlobo II:

Olu lolona hlobo lwe-OI lunzima kwaye luyingozi. Kule meko, imiphunga ayikhuli kakuhle (kuba i-rib cage ayikheki kakuhle), kubakho ukukhubazeka okukhulu kwamathambo, kwaye umntwana unokuba namathambo aliqela aphukileyo ngoxa esesesibelekweni, oko kukuthi, ngaphambi kokuzalwa. Iintsana ezinalolu hlobo ziyafa ngoko nangoko okanye kwiintsuku ezimbalwa emva kokuzalwa . Oku kukwabizwa ngokuba yi-"perinatal osteogenesis imperfecta."

• Uhlobo lwesithathu:

Olu lolona hlobo lwe-OI lunzima kakhulu olunokudluliselwa emva kokuzalwa. Lukwabangela ukukhubazeka okukhulu kwamathambo , okwenza amathambo abe buthathaka kakhulu. Oku kunokukhokelela kwiziphene ezinkulu zomzimba. Rhoqo, aba bantwana baneethambo ezaphukileyo xa bezalwa. Oku kukwabizwa ngokuba yi-"progressive osteogenesis imperfecta."

• Uhlobo lwesine:

Olu hlobo lunzima kakhulu kunohlobo I, kodwa alunzima kangako kunohlobo III. Abantu abanolu hlobo banokuba nokukhubazeka kwamathambo okuncinci ukuya kokuphakathi. Amathambo abuthathaka ngakumbi kunalawo angenayo i-OI, kodwa awaphuki lula njengalawo anohlobo III. Amhlophe emehlweni anokuba nombala oqhelekileyo.

Ixhaphake kangakanani le sifo?

I-Osteogenesis imperfecta sisifo esingaqhelekanga . Kuqikelelwa ukuba esi sifo sichaphazela umntu omnye kwabangama-20,000.

Zithini iimpawu ze-osteogenesis imperfecta (OI)?

Ngoko ke, zithini iimpawu zomntu onesi sifo? Ezi mpawu zinokwahluka ngokuxhomekeke kuhlobo lwesifo.

• Amathambo aphuka lula kakhulu (le yeyona mpawu iphambili neyona ixhaphakileyo)
• Ukukhubazeka kwamathambo (umz., imilenze egobileyo, iingalo)
• Intlungu yethambo
• Amhlophe emehlweni (i-sclerae) aba luhlaza okwesibhakabhaka, ngwevu, okanye abe mfusa ngombala.
• Ukukrweleka lula
• Ubunzima bokuphefumla
• Ukulahlekelwa kukuva - ngamanye amaxesha kunokuqala ebuntwaneni
• Amalungu akhululekileyo
• Ubuthathaka bemisipha
• Ukugoba komqolo - umzekelo, i-hunchback (kyphosis) okanye i-sideways curve yomqolo (scoliosis)
• Ubude obuncinci
• Ubuso obunxantathu
• Ukubuthathaka kwamazinyo, ukwaphuka lula, ukutshintsha kombala wamazinyo (mhlawumbi umbala otyheli-mdaka)
• Amazinyo angadibani kakuhle (iMalocclusion)
• Ikheyiji yembambo efana nomgqomo

Yintoni isizathu soku?

Eyona nto ibangela i-osteogenesis imperfecta kukuguquka kwezakhi zofuzo . Ngamafutshane, yimpazamo encinci kwiplani esisiseko eyenza imizimba yethu, oko kukuthi, kwiizakhi zofuzo zethu.

Oku kudla ngokubangelwa kukuguquka kwezakhi zofuzo ezimbini ezibizwa ngokuba yi-COL1A1 okanye i-COL1A2 . Ezi zakhi zofuzo zimbini zinceda ekuveliseni iproteni ebizwa ngokuba yi-Type I Collagen esithethe ngayo ngaphambili. Ngoko ke, xa kukho utshintsho kwezi zakhi zofuzo, umzimba awuvelisi i-collagen eyaneleyo, okanye umgangatho we-collagen eveliswayo uyancipha. Ezinye iintlobo ezingaqhelekanga ze-OI nazo zinokubangelwa kukuguquka kwezinye izakhi zofuzo ze-collagen.

Olu tshintsho lwemfuza ngamanye amaxesha lunokwenzeka ngamaxesha athile, oko kuthetha ukuba lwenzeka ngequbuliso. Okanye, lunokufunyanwa kumzali omnye okanye bobabini.Abanye abantu banokuba ngabathwali bejini ebangela i-OI. Oku kuthetha ukuba nokuba abanazo iimpawu, banokudlulisela ijini kunye nesifo kubantwana babo.

Iintlobo ezine eziqhelekileyo ze-OI (iintlobo I-IV) zizuzwa njengelifa kwipateni elawulayo ye-autosomal . Oku kuthetha ukuba umntwana kufuneka azuze i-gene enesiphene kumzali omnye ukuze afumane esi sifo. Ezinye iintlobo ezingaqhelekanga zinokuzuzwa njengelifa kwi -autosomal recessive (ifuna ukuba bobabini abazali bazuze i-gene enesiphene) okanye ipateni ye-X-linked (ezuzwa njengelifa nge-chromosome ye-X).

Ziziphi izinto ezibangela umngcipheko we-osteogenesis imperfecta (OI)?

Enyanisweni, esi sifo singenzeka nakubani na xa ezalwa. Nangona kunjalo, ukuba umntu kusapho lwakho unale sifo, umngcipheko wakho wokuba nale meko uphezulu .

Ziziphi iingxaki ezinokubakho zesi sifo?

Iingxaki ziyahluka ngokuxhomekeke kuhlobo kunye nobukhali be-OI. Ezinye zazo ziquka:

• Isifo sentliziyo, umzekelo, ukusilela kwentliziyo
• I-pneumonia exhaphakileyo
• Iingxaki zokuphefumla, mhlawumbi ukusilela kokuphefumla
• Iingxaki ezichaphazela inkqubo yemithambo-luvo

Oogqirha bayixilonga njani le sifo?

Oogqirha badla ngokuxilonga isifo samathambo abuthathaka, okanye i-OI, ebuntwaneni. Uvavanyo oluphambili lwale nto zezi:

• Uvavanyo lwemfuza: Oku kunokumisela ngokuchanekileyo ukuba kukho isiphene semfuza esibangela i-OI.
• Uvavanyo loxinano lwamathambo: Olu lujonga amandla amathambo.

Ngamanye amaxesha, oogqirha banokukukrokrela oku ngexesha lokukhulelwa ngokusekelwe kwiimpawu ezibonwe kwi -ultrasound scan yomntwana. Ukuba oku kuyenzeka, ukuxilongwa kunokuqinisekiswa nokuba ngexesha lokukhulelwa ngokwenza uvavanyo olubizwa ngokuba yi-amniocentesis (apho kuthathwa isampuli encinci yolwelo olujikeleze umntwana kwaye iiseli zakhe zivavanywa ngokwemfuza) okanye emva kokuba umntwana ezelwe.

Ziziphi iindlela zonyango lwe-osteogenesis imperfecta (OI)?

Akukho nyango lwe-OI, kodwa kukho unyango oluninzi olunokunceda ukuqinisa amathambo, ukulawula iimpawu, kunye nokunceda abantu abane-OI baphile ngokuzimela kangangoko kunokwenzeka .

Isicwangciso sonyango siya kwahluka kumntu nomntu. Singabandakanya:

• Unyango Lomsebenzi (OT): Oku kunceda ekuphuhliseni izakhono ezifunekayo ukwenza imisebenzi yemihla ngemihla, njengokunxiba, ukutya, nokubhala, ngokuzimela.
• Unyango Lomzimba (PT): Oku kubandakanya umthambo ongenampembelelo ingako onceda ukuqinisa amathambo kunye nezihlunu, ukuphucula ukuhambahamba, kunye nokugcina ulungelelwano lomzimba.
• Izixhobo zokuncedisa: IiWalkers , iiCanes , iiCrutchesKusenokufuneka usebenzise izinto ezifana neenduku zokusila .
• Unyango lomlomo nolwamazinyo: Ufanele ubonane nogqirha wamazinyo rhoqo ukuze ajonge aze anyange iingxaki zamazinyo akho kunye nemihlathi. Usenokufuna unyango lokulungisa amazinyo akho.
• Ukhathalelo lokuphefumla: Ukuba unengxaki yokuphefumla, unokufuna ukubona ingcali yezifo zamaphaphu ukuze ufumane unyango.
• Amayeza: Ugqirha wakho angakunika amayeza anjenge -bisphosphonates, anceda ukuqinisa amathambo.
• Utyando: Iintonga zesinyithi zinokufakwa ngotyando ukuze zoluleke kwaye ziqinise amathambo agobileyo okanye abuthathaka.
• Iibraces, ii-splint, okanye ii-cast: Ezi zisetyenziselwa ukukhusela amathambo aphukileyo ngelixa ephola okanye emva kotyando.

Lingakanani ixesha lokuphila komntu one-osteogenesis imperfecta (OI)?

Oku kuxhomekeke ngokwenene kuhlobo lwe-OI.

• Umntu onohlobo lwe-Type I , oluqhelekileyo noluncinci, unokuphila ubomi obuqhelekileyo, njengomntu ongenalo i-OI.
• Nangona abantu abanohlobo lwe-IV behlala bephila bade babe ngabantu abadala, ubomi babo busenokuba bufutshane kancinci .
• Njengoko besitshilo ngaphambili, iintsana ezine- Type II ziyafa ngoko nangoko okanye kwiintsuku ezimbalwa emva kokuzalwa .

Ngaba esi sifo singathintelwa?

I-Osteogenesis imperfecta yimeko yemfuza, ngoko ke ayinakuthintelwa . Nangona kunjalo, ukuba wena, iqabane lakho, okanye umntu osapho lwakho une-OI, kubalulekile ukuthetha nomcebisi wezemfuza . Banokukunika iingcebiso malunga nomngcipheko wokudlulisela esi sifo kubantwana bakho.

Umntu one-OI angahlala njani esempilweni enempilo yamathambo?

Ukuba wena okanye umntwana wakho une-osteogenesis imperfecta, ungenza ezi zinto ukuze ugcine amathambo akho ephilile kangangoko kunokwenzeka:

• Yitya ukutya okutyebileyo kwi-calcium kunye ne-vitamin D. (umz. ubisi, itshizi, iyogathi, imifuno eluhlaza, intlanzi encinci, amaqanda, ukuchatshazelwa lilanga)
• Yenza umthambo ocetyiswe ngugqirha wakho. (Kuphela phantsi kwengcebiso kagqirha!)
• Nciphisa ukusetyenziswa kotywala kunye ne-caffeine (efumaneka kwiti, kwikofu, kwitshokolethi).
• Ukuba uyatshaya, yeka , kwaye uphephe ukuba kwiindawo apho abanye abantu batshaya khona (umsi otshaywe ngabanye abantu).
• Nyamekela impilo yakho yengqondo . Ingakumbi kubantwana nakubantu abancinci, ukuthetha nonontlalontle okanye umcebisi malunga noxinzelelo lokuphila nesifo esingapheliyo esifana nesi kunokuba luncedo kakhulu.

Ndifanele ndimbone nini ugqirha?

Ukuba wena okanye umntwana wakho niyabona ukuba amathambo akhe aphuka lula , ingakumbi ukuba oko kwenzeka ngaphandle kokwenzakala okukhulu, okanye ukuba unezinye iimpawu ze-OI esithethe ngazo, qiniseka ukuba ubona ugqirha. Angacebisa ukuba kwenziwe uvavanyo olongezelelweyo ukuba kuyimfuneko.

Ndingaya nini kwiYunithi yoNyango oluNgxamisekileyo (i-ETU) ?

Ukuba wena okanye umntwana wakho waphuka ithambo , yiya kwigumbi likaxakeka elikufutshane ngokukhawuleza. Xelela oogqirha ukuba une-osteogenesis imperfecta.

Ndingayibuza yiphi imibuzo ugqirha wam?

Kunganceda ukubuza imibuzo efana nale xa ubona ugqirha wakho:

• Loluphi uhlobo lwe-osteogenesis imperfecta endinalo/umntwana wam?
• Yintoni endifanele ndiyazi malunga nexesha lokuphila ubomi obude xa ndiphila ne-OI?
• Ndingazinceda njani mna/umntwana wam ukuba alawule iimpawu ze-OI?
• Ndingenza ntoni ukuba mna/umntwana wam waphuka ithambo?
• Angakanani amathuba okuba ndibe nomnye umntwana one-osteogenesis imperfecta?

Ngaba umntu one-osteogenesis imperfecta (OI) angahamba?

Ewe, kunokwenzeka . Abantu abaneentlobo ze-OI ezincinci banokuhamba ngokuqhelekileyo. Abanye banokufuna ukusebenzisa iibraces okanye ii-crutches. Unyango olufana nonyango lomzimba (PT) kunye nonyango lomsebenzi (OT) oluqalwe kwangethuba lunokunceda ukuphucula amandla omntwana wakho okuhamba.

Kuqhelekile ukuziva uxinezelekile xa ufumanisa ukuba umntwana wakho unemeko ehlala ixesha elide. Ikamva lisenokubonakala lahlukile kakhulu kunendlela obuyilindele. Kodwa, izinto ezifana nonyango lomsebenzi kunye nonyango lomzimba oluqala kwangethuba zinokukunceda wena nomntwana wakho niqhelane nolu tshintsho. Kubalulekile ukuthetha ngokunyanisekileyo neqela lezonyango lomntwana wakho kunye nabantu obathandayo inyathelo ngalinye. Banokukunceda ulawule iimpawu kwaye wenze isicwangciso sokulungiselela ikamva.

Okokugqibela, umyalezo oya ekhaya:

I-Osteogenesis imperfecta yimeko enzima. Kodwa ungalahli ithemba . Ukuyazi imeko, ukufumana ukuxilongwa kwangethuba kunye nonyango, kunye nokuba nenkqubo eqinileyo yenkxaso kunokukunceda ukulawula iimpawu zakho kwaye uphile ubomi obuhle kangangoko kunokwenzeka. Thetha ngokukhululekileyo ngale nto nogqirha wakho kunye nosapho lwakho. Awuwedwa.

I- Osteogenesis Imperfecta, Isifo Samathambo Esibhityileyo, I-Collagen, Ukwaphuka Kwamathambo, Isifo Sofuzo, Impilo Yabantwana