Acrodysostosis

Acrodysostosis ke lefu le sa tloaelehang haholo le hlahang nakong ea tsoalo (congenital). E lebisa mathateng ka masapo a matsoho, maoto le nko, le bokooa ba kelello.

Batho ba bangata ba nang le acrodysostosis ha ba na nalane ea malapa ea lefu lena. Leha ho le joalo, ka linako tse ling boemo bo fetisoa ho tloha ho motsoali ho ea ho ngoana. Batsoali ba nang le bothata bona ba na le monyetla o le mong ho ba babeli oa ho fetisetsa lefu lena ho bana ba bona.

Ho na le kotsi e kholo ho bo-ntate ba holileng.

Matšoao a lefu lena a kenyelletsa:

• Matšoao a khafetsa a tsebe ea bohareng
• Mathata a kholo, matsoho le maoto a makhutšoane
• Mathata a ho utloa
• Bokooa ba kelello
• 'Mele ha o arabe lihormone tse itseng, leha maemo a lihormone a tloaelehile
• Likarolo tse fapaneng tsa sefahleho

Mofani oa tlhokomelo ea bophelo hangata a ka hlahloba boemo bona ka tlhahlobo ea 'mele. Sena se ka bonts'a tse latelang:

• Lilemo tse tsoetseng pele tsa masapo
• Ho holofala ha masapo matsohong le maotong
• Ho lieha kholo
• Mathata ka letlalo, litho tsa botona le botšehali, meno le masapo
• Matsoho le maoto a makhuts'oane ka matsoho le maoto a manyane
• Hlooho e khuts'oane, e lekantsoeng kapele ho ea morao
• Bolelele bo bolelele
• Nko e nyane e phethotsoe e nang le borokho bo sephara
• Likarolo tse fapaneng tsa sefahleho (nko e khuts'oane, molomo o bulehileng, mohlahare o hlahang)
• Hlooho e sa tloaelehang
• Mahlo a sephara, ka linako tse ling a na le letlalo le eketsehileng sekhutlong sa leihlo

Likhoeling tsa pele tsa bophelo, li-x-ray li ka bonts'a li-calcium tse nang le mabala tse bitsoang stippling, masapong (haholo nko). Masea a ka ba le:

• Menoana e menyenyane le menoana ea maoto e sa tloaelehang
• Khōlo ea pele ea masapo matsohong le maotong
• Masapo a makhuts'oane
• Ho khutsufatsa masapo a forearm haufi le letsoho

Liphatsa tsa lefutso tse peli li hokahantsoe le boemo bona, mme ho ka etsoa liteko tsa lefutso.

Kalafo e ipapisitse le matšoao.

Ho ka fanoa ka li-hormone. Ho ka etsoa opereishene ea ho phekola mathata a masapo.

Lihlopha tsena li ka fana ka tlhaiso-leseling e batsi ka acrodysostosis:

• Mokhatlo oa Naha oa Mathata a Rare - rarediseases.org/rare-diseases/acrodysostosis
• Setsi sa Boitsebiso ba Mafu a Rare le Mafu a Rare - rarediseases.info.nih.gov/diseases/5724/acrodysostosis

Mathata a latela boholo ba ho nka karolo ha masapo le bokooa ba kelello. Ka kakaretso, batho ba sebetsa hantle.

Acrodysostosis e ka lebisa ho:

• Bokooa ba ho ithuta
• Ramatiki
• Lefu la Carpal tunnel
• Ho saroloha ho hoholo ha mokokotlo, litsoeng le matsoho

Bitsa mofani oa ngoana oa hau haeba matšoao a acrodystosis a hlaha. Etsa bonnete ba hore bolelele le boima ba ngoana oa hau bo lekantsoe nakong ea ketelo e 'ngoe le e' ngoe ea bana ba hantle. Mofani oa thepa a ka u lebisa ho:

• Setsebi sa liphatsa tsa lefutso bakeng sa tlhahlobo e felletseng le lithuto tsa chromosome
• Ngaka endocrinologist bakeng sa taolo ea mathata a kholo ea ngoana oa hau

Arkless-Graham; Acrodysplasia; Maroteaux-Malamut

• Anterior skeletal anatomy

Jones KL, Jones MC, Del Campo M. Masapo a mang a dysplasias. Ka: Jones KL, Jones MC, Del Campo M, bahlophisi. Mekhoa e tsebahalang ea Smith ea Litšitiso tsa Botho. La 7th. Philadelphia, PA: Elsevier Saunders; 2013: 560-593.

Mokhatlo oa Naha oa Mathata a Rare. Acrodysostosis. rarediseases.org/rare-diseases/acrodysostosis. E fihlile ka la 1 February, 2021.

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