Acrodysostosis

Acrodysostosis ndi matenda osowa kwambiri omwe amapezeka pakubadwa (kobadwa nako). Zimabweretsa mavuto ndi mafupa a manja, mapazi, ndi mphuno, komanso kulumala kwa nzeru.

Anthu ambiri omwe ali ndi acrodysostosis alibe mbiri yakubadwa kwa matendawa. Komabe, nthawi zina vutoli limaperekedwa kuchokera kwa kholo kupita kwa mwana. Makolo omwe ali ndi vutoli ali ndi mwayi umodzi mwa awiri wopatsira ana awo vutoli.

Pali chiopsezo chokulirapo ndi abambo omwe ali achikulire.

Zizindikiro za matendawa ndi monga:

• Matenda apakatikati apakatikati
• Mavuto okula msinkhu, mikono ndi miyendo yochepa
• Mavuto akumva
• Kulemala kwamaluso
• Thupi silimayankha mahomoni ena, ngakhale kuchuluka kwa mahomoni kumakhala kwabwinobwino
• Mawonekedwe osiyana

Wothandizira zaumoyo amatha kudziwa ngati ali ndi vutoli. Izi zitha kuwonetsa izi:

• Msinkhu wapamwamba wa mafupa
• Kupindika kwa mafupa m'manja ndi m'mapazi
• Kuchedwa kukula
• Mavuto ndi khungu, kumaliseche, mano, ndi mafupa
• Manja ndi miyendo yayifupi ndi manja ndi mapazi ang'onoang'ono
• Mutu waufupi, woyezedwa kutsogolo kupita kumbuyo
• Kutalika kwakanthawi
• Mphuno yaying'ono, yosunthika yokhala ndi mlatho wolimba
• Zosiyanitsa nkhope (mphuno yayifupi, pakamwa potseguka, nsagwada zomwe zimatuluka)
• Mutu wosazolowereka
• Maso otambalala, nthawi zina amakhala ndi khola lowonjezera pakona la diso

M'miyezi yoyamba yamoyo, ma x-ray amatha kuwonetsa ma calcium calcium, omwe amatchedwa stippling, m'mafupa (makamaka mphuno). Makanda amathanso kukhala ndi:

• Zala zazing'ono ndi zala zazifupi modabwitsa
• Kukula msanga kwa mafupa m'manja ndi m'mapazi
• Mafupa afupiafupi
• Kufupikitsa mafupa oyandikira pafupi ndi dzanja

Ma jini awiri amalumikizidwa ndi vutoli, ndipo kuyesa kwa majini kungachitike.

Chithandizo chimadalira zizindikiro.

Mahomoni, monga kukula kwa hormone, angaperekedwe. Kuchita opaleshoni kuthana ndi mavuto a mafupa kumatha kuchitika.

Maguluwa atha kupereka zambiri pa acrodysostosis:

• National Organisation for Rare Disways - rarediseases.org/rare-diseases/acrodysostosis
• NIH Genetic and Rare Diseases Information Center - rarediseases.info.nih.gov/diseases/5724/acrodysostosis

Mavuto amatengera kukula kwa mafupa komanso kulumala kwa nzeru. Mwambiri, anthu amachita bwino.

Acrodysostosis itha kubweretsa ku:

• Kulephera kuphunzira
• Nyamakazi
• Matenda a Carpal
• Kukulitsa kwamayendedwe amsana, zigongono, ndi manja

Itanani yemwe amakupatsani mwana ngati zizindikiro za acrodystosis zikukula. Onetsetsani kuti kutalika ndi kulemera kwa mwana wanu kumayesedwa paulendo uliwonse woyendera ana abwino. Woperekayo akhoza kukutumizirani ku:

• Katswiri wa majini kuti awunikire kwathunthu ndi maphunziro a chromosome
• Katswiri wamaphunziro azachipatala wothandizira ana pamavuto amakulidwe a mwana wanu

Arkless-Graham; Kutsegula; Maloteaux-Malamut

• Anterior mafupa anatomy

Jones KL, Jones MC, Del Campo M. Mafupa ena am'magazi. Mu: Jones KL, Jones MC, Del Campo M, olemba. Mitundu Yodziwika ya Smith Yosintha Kwaanthu. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier Saunders; 2013: 560-593.

Tsamba la National Organisation for Rare Disways. Acrodysostosis. rarediseases.org/rare-diseases/acrodysostosis. Inapezeka pa February 1, 2021.

Silve C, Clauser E, Linglart A. Acrodysostosis. Horm Metab Res. 2012; 44 (10): 749-758. (Adasankhidwa) PMID: 22815067 pubed.ncbi.nlm.nih.gov/22815067/.