ʻAcrodysostosis

ʻO Acrodysostosis kahi maʻi maʻi laha ʻole i loaʻa ma ka wā hānau (congenital). Ke alakaʻi nei i nā pilikia me nā iwi o nā lima, nā wāwae, a me ka ihu, a me ke kīnā ʻole o ka ʻike.

ʻO ka hapa nui o ka poʻe me ka acrodysostosis ʻaʻohe moʻolelo o ka ʻohana o ka maʻi. Eia nō naʻe, i kekahi manawa hoʻoili ʻia ke ʻano mai ka makua a ke keiki. Loaʻa i nā mākua me ke ʻano he 1 i ka 2 manawa o ka hoʻoili ʻana i kēia maʻi i kā lākou keiki.

Aia kekahi pilikia nui aʻe me nā makuakāne ʻelemakule.

ʻO nā ʻōuli o kēia maʻi me:

• ʻO nā maʻi pepeiao waena waena pinepine
• Nā pilikia ulu, nā lima a me nā wāwae pōkole
• Lohe hoʻolohe
• Kīnā ʻole o ka noʻonoʻo
• ʻAʻole pane ke kino i kekahi mau hormona, ʻoiai he maʻamau nā pae o ka hormone
• Nā hiʻohiʻona helehelena

Hiki i ka mea mālama ola ke hōʻoia maʻamau i kēia ʻano me ka hoʻokolohua kino. Hōʻike paha kēia i kekahi o kēia mau mea:

• Makahiki iwi holomua
• Nā deformities o ka iwi i nā lima a me nā wāwae
• Hoopanee i ka ulu ana
• Nā pilikia me ka ʻili, nā genital, nā niho, a me ka iwi iwi
• Nā lima a me nā wāwae pōkole me nā lima liʻiliʻi a me nā wāwae
• ʻO ke poʻo pōkole, ana ʻia i mua a i hope
• Kiʻekiʻena kiʻekiʻe
• Liʻiliʻi, upturned ihu ākea me ka uapo pālahalaha
• Nā hiʻohiʻona hiwahiwa o ka helehelena (ka ihu pōkole, hāmama ka waha, a ʻāiwi e kū mai)
• Ke poʻo maʻamau ʻole
• ʻO nā maka ākea, i kekahi manawa me ka ʻili hou keu i ke kihi o ka maka

I nā mahina mua o ke ola, hiki i nā kukuna x ke hōʻike i nā waihona kalikimaka kīnā ʻole, i kapa ʻia he stippling, i nā iwi (ʻo ka ihu hoʻi. Loaʻa paha i nā pēpē:

• Nā manamana lima a me nā manamana wāwae pōkole loa
• ʻO ka ulu mua ʻana o nā iwi i nā lima a me nā wāwae
• Iwi pōkole
• ʻO ka pōkole ʻana o nā iwi lima i kokoke i ka pūlima

Ua hoʻopili ʻia ʻelua mau ʻaoʻao me kēia ʻano, a hana ʻia paha ka hoʻāʻo genetika.

Kaukaʻi hilinaʻi nui ʻia ma nā ʻōuli.

Hāʻawi ʻia nā Hormones, e like me ka ulu ʻana o ka hormone. ʻO ke ʻoki kino e mālama ai i nā pilikia iwi.

Hiki i kēia mau pūʻulu ke hāʻawi i ka ʻike hou aku e pili ana i ka acrodysostosis:

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

Pili nā pilikia i ke kēkelē o ke komo ʻana i nā iwi a me ke kīnā ʻole o ka ʻike. Ma ka laulā, hana maikaʻi nā kānaka.

Hiki i ka Acrodysostosis ke alakaʻi iā:

• Aʻo kīnā ʻole
• Pākuʻi
• Carpal tunnel maʻi maʻi
• Hoʻonui i ka neʻe o ka neʻe i ka iwi kuamoʻo, kuʻekuʻe lima, a me nā lima

Kāhea i ka mea hāʻawi i kāu keiki inā e ulu nā hōʻailona acrodystosis. E hōʻoia i ke kiʻekiʻe a me ke kaumaha o kāu keiki i ana ʻia i kēlā me kēia kipa maikaʻi a ke keiki. E kuhikuhi paha ka mea hāʻawi iā ʻoe iā:

• ʻO kahi loea kūlohelohe no ka loiloi piha a me nā chromosome
• ʻO kahi endocrinologist pediatric no ka mālama ʻana i nā pilikia ulu o kāu keiki

Arkless-Graham; ʻAcrodysplasia; Maroteaux-Malamut

• Anatomy iwi mua

ʻO Jones KL, ʻo Jones MC, ʻo Del Campo M. ʻO nā displasias iwi ʻē aʻe. I: Jones KL, Jones MC, Del Campo M, hua. Nā Manaʻo Hoʻomaopopo a Smith o ka Malformation Kanaka. ʻEpekema 7 Piladelapia, PA: Elsevier Saunders; 2013: 560-593.

ʻO ka National Organization for Rare Disorder pūnaewele. ʻAcrodysostosis. rarediseases.org/rare-diseases/acrodysostosis. Loaʻa iā Pepeluali 1, 2021.

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