Osteogenesis chosakwanira

Osteogenesis imperfecta ndimavuto omwe amachititsa mafupa osalimba.

Osteogenesis imperfecta (OI) amapezeka pakubadwa. Nthawi zambiri zimayambitsidwa ndi chilema mu jini chomwe chimatulutsa mtundu woyamba wa collagen, fupa lofunika kwambiri. Pali zolakwika zambiri zomwe zingakhudze jini iyi. Kukula kwa OI kumadalira vuto lomwe mumakhala nalo.

Ngati muli ndi mtundu umodzi wa jini, mudzadwala. Matenda ambiri a OI adachokera kwa kholo. Komabe, nthawi zina zimachitika chifukwa cha kusintha kwatsopano kwa majini.

Munthu yemwe ali ndi OI ali ndi mwayi wa 50% wopatsira ana awo matendawa.

Anthu onse omwe ali ndi OI ali ndi mafupa ofooka, ndipo ma fracture amatha. Anthu omwe ali ndi OI nthawi zambiri amakhala ocheperako msinkhu (wamfupi). Komabe, kukula kwa matendawa kumasiyanasiyana kwambiri.

Zizindikiro zake zakale ndi izi:

• Mtundu wa buluu kwa azungu amaso awo (blue sclera)
• Mafupa angapo amathyoka
• Kutaya kwakumva koyambirira (kugontha)

Chifukwa mtundu wa I collagen umapezekanso m'mitsempha, anthu omwe ali ndi OI nthawi zambiri amakhala ndi ziwalo zosasunthika (hypermobility) ndi mapazi athyathyathya. Mitundu ina ya OI imathandizanso kukulira mano operewera.

Zizindikiro zamitundu yayikulu ya OI zitha kuphatikizira izi:

• Agwada miyendo ndi mikono
• Katemera
• Scoliosis (S-curve msana)

OI nthawi zambiri amakayikiridwa mwa ana omwe mafupa awo amathyoledwa mwamphamvu kwambiri. Kuyezetsa thupi kumatha kuwonetsa kuti azungu amaso awo ali ndi utoto wabuluu.

Chidziwitso chotsimikizika chitha kupangidwa pogwiritsa ntchito nkhonya ya khungu. Achibale atha kuyesedwa magazi a DNA.

Ngati pali mbiri ya banja ya OI, zitsanzo za chorionic villus zitha kuchitidwa panthawi yapakati kuti mudziwe ngati mwanayo ali ndi vutoli. Komabe, chifukwa kusintha kosiyanasiyana kumatha kuyambitsa OI, mitundu ina singapezeke ndi mayeso amtundu.

Mtundu wowopsa wa mtundu wachiwiri wa OI ukhoza kuwonedwa pa ultrasound pamene mwana wakhanda amakhala ndi masabata 16.

Padalibe mankhwala ochiza matendawa. Komabe, njira zochiritsira zapadera zimatha kuchepetsa kupweteka komanso zovuta kuchokera ku OI.

Mankhwala omwe amatha kukulitsa mphamvu komanso kuchuluka kwa mafupa amagwiritsidwa ntchito kwa anthu omwe ali ndi OI. Awonetsedwa kuti amachepetsa kupweteka kwa mafupa ndi kuchepa kwa mafupa (makamaka m'mafupa a msana). Amatchedwa bisphosphonates.

Zochita zochepa, monga kusambira, zimapangitsa kuti minofu ikhale yolimba ndikuthandizira kukhalabe ndi mafupa olimba. Anthu omwe ali ndi OI atha kupindula ndi izi ndipo ayenera kulimbikitsidwa kuti azichita.

Milandu yovuta kwambiri, kuchitidwa opaleshoni yoyika ndodo zachitsulo m'mafupa aatali a miyendo kumatha kuganiziridwa. Njirayi imatha kulimbitsa mafupa ndikuchepetsa chiopsezo chovulala. Kulimba mtima kungathandizenso anthu ena.

Kuchita opaleshoni kungafunike kukonza zolakwika zilizonse. Chithandizochi ndichofunikira chifukwa zopunduka (monga miyendo yoweramitsidwa kapena vuto la msana) zimatha kusokoneza kuthekera kwa munthu kuyenda kapena kuyenda.

Ngakhale atalandira chithandizo, ziphuphu zimachitika. Mafupa ambiri amachira mwachangu. Nthawi yoponyera iyenera kuchepetsedwa, chifukwa kutayika kwa mafupa kumatha kuchitika ngati simugwiritsa ntchito gawo limodzi la thupi lanu kwakanthawi.

Ana ambiri omwe ali ndi OI amakhala ndi mavuto azithunzi akamayamba zaka zawo zaunyamata. Wogwira ntchito kapena wothandizira zamaganizidwe amatha kuwathandiza kuti azolowere moyo ndi OI.

Momwe munthu amachitira bwino zimadalira mtundu wa OI omwe ali nawo.

• Mtundu I, kapena OI wofatsa, ndiye mawonekedwe ofala kwambiri. Anthu omwe ali ndi mtundu uwu amatha kukhala ndi moyo wabwino.
• Type II ndi mawonekedwe owopsa omwe nthawi zambiri amatsogolera kuimfa mchaka choyamba chamoyo.
• Mtundu wachitatu umatchedwanso OI woopsa. Anthu omwe ali ndi mtundu uwu amakhala ndi zophulika zambiri kuyambira ali aang'ono kwambiri ndipo amatha kukhala ndi zovuta m'mafupa. Anthu ambiri amafunika kugwiritsa ntchito njinga ya olumala ndipo nthawi zambiri amakhala ndi chiyembekezo chokhala ndi moyo pang'ono.
• Mtundu wachinayi, kapena OI wowopsa, ndi wofanana ndi mtundu woyamba I, ngakhale anthu omwe ali ndi mtundu wachinayi nthawi zambiri amafunika ma brace kapena ndodo kuti ayende. Kutalika kwa moyo kumakhala kwachibadwa kapena pafupifupi kwachizolowezi.

Pali mitundu ina ya OI, koma imachitika kawirikawiri ndipo ambiri amatengedwa ngati mitundu yaying'ono kwambiri (mtundu wa IV).

Zovuta zimangotengera mtundu wa OI pano. Nthawi zambiri zimakhudzana mwachindunji ndi mavuto omwe ali ndi mafupa ofooka komanso ma fracture angapo.

Zovuta zingaphatikizepo:

• Kutaya kwakumva (kofala pamtundu wa I ndi mtundu wachitatu)
• Kulephera kwa mtima (mtundu wachiwiri)
• Mavuto am'mapapo ndi chibayo chifukwa cha zolimba pachifuwa
• Msana kapena mavuto am'magazi
• Kukhazikika kwamuyaya

Mitundu yolimba imapezeka nthawi yayitali kwambiri, koma zovuta zochepa sizingadziwike mpaka patapita nthawi. Onani wothandizira zaumoyo wanu ngati inu kapena mwana wanu muli ndi zizindikiro za vutoli.

Uphungu wamtunduwu umalimbikitsidwa kwa maanja omwe akuganiza zokhala ndi pakati ngati ali ndi mbiri yabanja kapena yabanja pankhaniyi.

Matenda a mafupa; Kobadwa nako matenda; OI

• Pectus excavatum

Deeney VF, Arnold J. Orthopedics. Mu: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli ndi Davis ’Atlas of Pediatric Physical Diagnosis. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier; 2018: mutu 22.

Marini JC. Osteogenesis chosakwanira. Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 721.

Mwana-Hing JP, Thompson GH. Matenda obadwa nawo kumtunda ndi kumunsi ndi msana. Mu: Martin RJ, Fanaroff AA, Walsh MC, olemba., Eds. Fanaroff ndi Martin's Neonatal-Perinatal Medicine. 11th ed. Philadelphia, PA: Elsevier; 2020: chap 99.