Kodi mafupa anu amasweka mosavuta? Tiyeni tikambirane za Osteogenesis Imperfecta, kapena matenda a mafupa ofooka!

Kodi mudamvapo za anthu omwe amabadwa ndi mafupa ofooka kwambiri, omwe mafupa awo amasweka mosavuta? Mwina wina m'banja mwanu, kapena mwana wa mnzanu, ali ndi vutoli. N'zomvetsa chisoni komanso zovuta. Lero tikambirana za 'matenda a mafupa osalimba' awa, kapena pankhani ya zamankhwala, Osteogenesis Imperfecta (OI) .

Kodi Osteogenesis Imperfecta ndi chiyani?

Mwachidule, osteogenesis imperfecta ndi matenda omwe amakhudza minofu yolumikizana m'thupi lathu. Izi zimapangitsa mafupa anu kukhala ofooka kwambiri. Izi zikutanthauza kuti amatha kusweka popanda kukhudzidwa kwambiri, nthawi zina popanda chifukwa chilichonse.

Chifukwa chachikulu cha izi ndichakuti thupi lathu silipanga mapuloteni okwanira otchedwa Type I Collagen , kapena limapanga collagen yomwe sinapangidwe bwino. Taganizirani izi, collagen ili ngati guluu m'matupi athu. Collagen iyi ndi yofunika kwambiri popanga kapangidwe ka mafupa athu, khungu, minofu, ndi zina zotero, ndikuzisunga zolimba. Chifukwa chake, collagen iyi ikapanda kupangidwa bwino, mafupa amafooka. Mawu oti "osteogenesis imperfecta" amatanthauza "mafupa osapangidwa bwino."

Chifukwa cha izi, anthu omwe ali ndi matendawa samangokhalira kusweka mafupa nthawi zonse pa moyo wawo wonse, komanso amatha kukhala ndi mavuto ndi ziwalo zina za thupi lawo, monga mano awo, khungu, msana, ndi mapapo.

Zizindikiro za mtundu wofala kwambiri wa matendawa nthawi zambiri zimakhala zochepa, koma mitundu ina yoopsa ingayambitse mavuto aakulu.

Kodi mitundu ikuluikulu ya osteogenesis imperfecta (OI) ndi iti?

Ngakhale madokotala amagawa OI m'mitundu pafupifupi 19 (mitundu I mpaka XIX), nthawi zambiri timalankhula za mitundu I, II, III, ndi IV. Magulu amenewa amachokera ku momwe collagen imapangidwira komanso momwe imakhudzira thupi.

• Mtundu Woyamba:

Mtundu uwu ndi wofala kwambiri, wokhala ndi zizindikiro zochepa. Anthu omwe ali ndi OI amathyoka mafupa awo mosavuta kuposa anthu omwe alibe OI. Komabe, kusweka kumeneku kumachitika nthawi zambiri asanakwanitse msinkhu . Mtundu uwu sumayambitsa kupunduka kwakukulu kwa mafupa. Anthu ena amatha kukhala ndi mtundu wabuluu wa maso awo, wotchedwa sclerae . Izi zimatchedwanso "classic non-deformative osteogenesis imperfecta yokhala ndi blue sclera."

• Mtundu Wachiwiri:

Uwu ndi mtundu woopsa kwambiri komanso woopsa wa matenda a OI. Pa vutoli, mapapo sakula bwino (chifukwa nthiti sizimapangidwa bwino), mafupa amasokonekera kwambiri, ndipo mwana akhoza kusweka mafupa angapo ali m'mimba, kutanthauza kuti, asanabadwe. Makanda amtunduwu amafa nthawi yomweyo kapena mkati mwa masiku ochepa atabadwa . Izi zimatchedwanso "perinatal osteogenesis imperfecta."

• Mtundu Wachitatu:

Uwu ndi mtundu woopsa kwambiri wa matenda a OI womwe ungaperekedwe munthu akangobadwa. Umayambitsanso kufooka kwa mafupa , zomwe zimapangitsa mafupa kukhala ofooka kwambiri. Izi zingayambitse kulumala kwakukulu. Nthawi zambiri, ana awa amakhala ndi mafupa osweka akangobadwa. Izi zimatchedwanso "progressive osteogenesis imperfecta."

• Mtundu Wachinayi:

Mtundu uwu ndi woopsa kwambiri kuposa Mtundu Woyamba, koma wochepa kwambiri kuposa Mtundu Wachitatu. Anthu omwe ali ndi mtundu uwu akhoza kukhala ndi mafupa ofooka pang'ono mpaka pang'ono. Mafupa ndi ofooka kwambiri kuposa omwe alibe OI, koma sasweka mosavuta ngati omwe ali ndi Mtundu Wachitatu. Maso oyera akhoza kukhala ndi mtundu wabwinobwino.

Kodi matendawa ndi ofala bwanji?

Osteogenesis imperfecta ndi matenda osowa kwambiri . Padziko lonse lapansi, akuti matendawa amakhudza munthu m'modzi pa anthu 20,000 aliwonse.

Kodi zizindikiro za osteogenesis imperfecta (OI) ndi ziti?

Ndiye kodi zizindikiro za munthu amene ali ndi matendawa ndi ziti? Zizindikirozi zimatha kusiyana malinga ndi mtundu wa matenda.

• Mafupa amasweka mosavuta (ichi ndiye chizindikiro chachikulu komanso chofala kwambiri)
• Kufooka kwa mafupa (monga miyendo yowerama, manja)
• Kupweteka kwa mafupa
• Maso oyera (sclerae) amakhala abuluu, imvi, kapena ofiirira.
• Kuvulala mosavuta
• Kuvuta kupuma
• Kutaya kumva - nthawi zina kumayamba ali mwana
• Mafupa otayirira
• Kufooka kwa minofu
• Kupindika kwa msana - mwachitsanzo, hunchback (kyphosis) kapena kupindika kwa msana m'mbali (scoliosis)
• Kutalika pang'ono
• Mawonekedwe a nkhope ya triangular
• Kufooka kwa mano, kusweka mosavuta, kusintha mtundu wa mano (mwina mtundu wachikasu-bulauni)
• Mano omwe sakugwirizana bwino (Malocclusion)
• Khola la nthiti looneka ngati mbiya

Kodi chifukwa chake ndi chiyani?

Chifukwa chachikulu cha osteogenesis imperfecta ndi kusintha kwa majini . Mwachidule, ndi cholakwika chaching'ono mu pulani yoyambira yomwe imapanga thupi lathu, ndiko kuti, m'majini athu.

Izi nthawi zambiri zimachitika chifukwa cha kusintha kwa majini awiri otchedwa COL1A1 kapena COL1A2 . Majini awiriwa amathandiza kupanga puloteni yotchedwa Type I Collagen yomwe tidakambirana kale. Chifukwa chake, pakakhala kusintha kwa majini awa, thupi silipanga collagen yokwanira, kapena mtundu wa collagen womwe umapangidwa umachepa. Mitundu ina yosowa ya OI ingayambitsidwenso ndi kusintha kwa majini ena a collagen.

Kusintha kwa majini kumeneku nthawi zina kumachitika pang'onopang'ono, kutanthauza kuti kumachitika mwadzidzidzi. Kapena, kungachokere kwa kholo limodzi kapena onse awiri.Anthu ena akhoza kukhala ndi jini yomwe imayambitsa matenda a OI. Izi zikutanthauza kuti ngakhale atakhala kuti alibe zizindikiro, amatha kupatsira jini ndi matendawa kwa ana awo.

Mitundu inayi yodziwika bwino ya OI (Mitundu I-IV) imabadwa mu autosomal dominant pattern. Izi zikutanthauza kuti mwana ayenera kulandira jini lolakwika kuchokera kwa kholo limodzi kuti adwale matendawa. Mitundu ina yosowa kwambiri imatha kulandira mu autosomal recessive (imafuna kuti makolo onse awiri alandire jini lolakwika) kapena X-linked (yochokera mu X chromosome).

Kodi ndi zinthu ziti zomwe zimayambitsa matenda a osteogenesis imperfecta (OI)?

Ndipotu, matendawa amatha kuchitika munthu aliyense akangobadwa. Komabe, ngati wina m'banja mwanu ali ndi matendawa, chiopsezo chanu chotenga matendawa chimakhala chachikulu .

Kodi ndi mavuto otani omwe angayambitse matendawa?

Mavuto amasiyana malinga ndi mtundu ndi kuopsa kwa OI. Ena mwa iwo ndi awa:

• Matenda a mtima, mwachitsanzo, kulephera kwa mtima
• Chibayo chofala
• Mavuto opuma, mwina kulephera kupuma
• Mavuto omwe amakhudza dongosolo la mitsempha

Kodi madokotala amazindikira bwanji matendawa?

Madokotala nthawi zambiri amazindikira matenda a mafupa ofooka, kapena OI, ali ana. Mayeso akuluakulu a matendawa ndi awa:

• Kuyesa majini: Izi zitha kudziwa ngati pali vuto la majini lomwe limayambitsa OI.
• Mayeso a kuchuluka kwa mafupa: Izi zimayesa kulimba kwa mafupa.

Nthawi zina, madokotala angakayikire izi panthawi ya mimba kutengera makhalidwe omwe awonedwa pa ultrasound scan ya mwana. Ngati izi zitachitika, matendawa angatsimikizidwe kaya panthawi ya mimba pochita mayeso otchedwa amniocentesis (momwe chitsanzo cha madzi ozungulira khanda chimatengedwa ndipo maselo ake amayesedwa majini) kapena mwana akabadwa.

Kodi njira zochizira matenda a osteogenesis imperfecta (OI) ndi ziti?

Palibe mankhwala a OI, koma pali njira zambiri zothandizira kulimbitsa mafupa, kuchepetsa zizindikiro, komanso kuthandiza anthu omwe ali ndi OI kukhala paokha momwe angathere .

Ndondomeko ya chithandizo idzasiyana malinga ndi munthu aliyense. Ikhoza kuphatikizapo:

• Chithandizo cha Occupational Therapy (OT): Izi zimathandiza kukulitsa luso lofunikira kuti munthu agwire ntchito za tsiku ndi tsiku, monga kuvala, kudya, ndi kulemba, payekha.
• Kuchiza Thupi (PT): Izi zimaphatikizapo masewera olimbitsa thupi osakhudza kwambiri mafupa ndi minofu, kulimbitsa kuyenda bwino, komanso kusunga thupi bwino.
• Zipangizo zothandizira: Oyenda , Ndodo , NdodoMungafunike kugwiritsa ntchito zinthu monga ndodo .
• Chisamaliro cha mano ndi mano: Muyenera kupita kwa dokotala wa mano nthawi zonse kuti akayang'anire ndikuchiza mavuto a mano ndi nsagwada zanu. Mungafunike chisamaliro cha mano kuti muwongole mano anu.
• Chisamaliro cha kupuma: Ngati mukuvutika kupuma, mungafunike kuonana ndi katswiri wa mapapu kuti akuthandizeni.
• Mankhwala: Dokotala wanu angakupatseni mankhwala monga bisphosphonates, omwe amathandiza kulimbitsa mafupa.
• Opaleshoni: Ndodo zachitsulo zitha kuikidwa opaleshoni kuti ziwongolere ndikulimbitsa mafupa opindika kapena opunduka.
• Zomangira, zomangira, kapena zomangira: Izi zimagwiritsidwa ntchito kuteteza mafupa osweka pamene akuchira kapena pambuyo pa opaleshoni.

Kodi munthu amene ali ndi matenda a osteogenesis imperfecta (OI) amakhala ndi moyo wautali bwanji?

Izi zimatengera mtundu wa OI.

• Munthu amene ali ndi mtundu woyamba , womwe ndi wofala kwambiri komanso wofatsa kwambiri, akhoza kukhala ndi moyo wabwinobwino, monga momwe munthu amene alibe matenda a shuga.
• Ngakhale anthu omwe ali ndi mtundu wachinayi nthawi zambiri amakhala ndi moyo mpaka akuluakulu, moyo wawo ukhoza kukhala wofupikitsa pang'ono .
• Monga tafotokozera kale, makanda omwe ali ndi mtundu wachiwiri amafa nthawi yomweyo kapena mkati mwa masiku ochepa kuchokera pamene anabadwa .

Kodi matendawa angapewedwe?

Osteogenesis imperfecta ndi matenda a majini, kotero sangathe kupewedwa . Komabe, ngati inu, mnzanu, kapena wina m'banja mwanu muli ndi matenda a OI, ndikofunikira kulankhula ndi mlangizi wa majini . Angakupatseni malangizo okhudza chiopsezo chopatsira matendawa kwa ana anu.

Kodi munthu amene ali ndi matenda a OI angatani kuti mafupa ake akhale ndi thanzi labwino?

Ngati inu kapena mwana wanu muli ndi osteogenesis imperfecta, mungachite izi kuti mafupa anu akhale athanzi momwe mungathere:

• Idyani zakudya zokhala ndi calcium ndi vitamini D wambiri (monga mkaka, tchizi, yogurt, ndiwo zamasamba zobiriwira, nsomba zazing'ono, mazira a dzira, kutenthedwa ndi dzuwa)
• Chitani masewera olimbitsa thupi omwe dokotala wanu wakupatsani. (Pokhapokha mutalangizidwa ndi dokotala!)
• Chepetsani kumwa mowa ndi caffeine (yomwe imapezeka mu tiyi, khofi, chokoleti).
• Ngati mukusuta, siyani kusuta , ndipo pewani kukhala pamalo omwe ena amasuta (utsi wa anthu ena).
• Samalani thanzi lanu la maganizo . Makamaka kwa ana ndi achinyamata, kulankhula ndi wantchito wothandiza anthu kapena mlangizi za nkhawa zomwe zimabwera chifukwa chokhala ndi matenda osatha ngati awa kungakhale kothandiza kwambiri.

Kodi ndiyenera kupita kwa dokotala liti?

Ngati inu kapena mwana wanu mukuona kuti mafupa ake akusweka mosavuta , makamaka ngati zikuchitika popanda kuvulala kwakukulu, kapena ngati ali ndi zizindikiro zina za OI zomwe takambirana, onetsetsani kuti mwaonana ndi dokotala. Iye angakulangizeni kuti mupite kukayezetsanso ngati pakufunika kutero.

Kodi ndiyenera kupita ku Chipinda Chothandizira Anthu Odwala Mwadzidzidzi (ETU) liti?

Ngati inu kapena mwana wanu mwathyoka fupa , pitani kuchipatala chapafupi mwamsanga. Uzaninso madokotala ngati muli ndi vuto la osteogenesis imperfecta.

Ndi mafunso ati omwe ndiyenera kufunsa dokotala wanga?

Zingakhale zothandiza kufunsa mafunso ngati awa mukapita kwa dokotala wanu:

• Kodi ine/mwana wanga muli ndi mtundu wanji wa osteogenesis imperfecta?
• Kodi ndiyenera kudziwa chiyani za moyo wanga wonse ndikakhala ndi OI?
• Kodi ndingatani kuti ndidzithandize ndekha/mwana wanga kuthana ndi zizindikiro za OI?
• Kodi ndiyenera kuchita chiyani ngati ine/mwana wanga wathyoka fupa?
• Kodi pali mwayi wotani woti ndikhale ndi mwana wina wokhala ndi osteogenesis imperfecta?

Kodi munthu amene ali ndi matenda a osteogenesis imperfecta (OI) angayende?

Inde, n'zotheka . Anthu omwe ali ndi matenda ofooka amatha kuyenda bwino. Ena angafunike kugwiritsa ntchito zitsulo zomangira kapena ndodo. Mankhwala monga physiotherapy (PT) ndi occupational therapy (OT) omwe ayambitsidwa msanga angathandize mwana wanu kuyenda bwino.

Ndizachibadwa kumva chisoni kwambiri mukazindikira kuti mwana wanu ali ndi matenda omwe angamuchitikire kwa moyo wake wonse. Tsogolo likhoza kuwoneka losiyana kwambiri ndi momwe mumayembekezera. Koma, zinthu monga chithandizo cha ntchito ndi chithandizo cha thupi zomwe zimayamba msanga zingakuthandizeni inu ndi mwana wanu kuzolowera kusintha kumeneku. Ndikofunikanso kulankhula moona mtima ndi gulu lachipatala la mwana wanu komanso okondedwa anu panjira iliyonse. Angakuthandizeni kuthana ndi zizindikiro ndikukonzekera kukonzekera tsogolo.

Pomaliza, uthenga woti mutenge kunyumba:

Matenda a Osteogenesis imperfecta ndi vuto lovuta. Koma musataye mtima . Kudziwa za vutoli, kupeza chithandizo msanga, komanso kukhala ndi chithandizo champhamvu kungakuthandizeni kuthana ndi zizindikiro zanu ndikukhala ndi moyo wabwino momwe mungathere. Kambiranani momasuka za izi ndi dokotala wanu komanso banja lanu. Simuli nokha.

` Osteogenesis Imperfecta, Matenda a Mafupa Osagwira Ntchito, Collagen, Kusweka kwa Mafupa, Matenda a Majini, Thanzi la Ana