An unusual cause of Achilles tendon xanthoma
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- 作者：Fabienne Parente ; MD ; PhDa ; Matthew Vesnaver ; BSca ; b ; Rami Massie ; MDc ; Alexis Baass ; MD ; MSca ; b ; d ; alexis.baass@ircm.qc.ca" class="auth_mail" title="E-mail the corresponding author
- 关键词：Cerebrotendinous xanthomatosis ; Xanthoma ; Cholestanol ; CYP27A1 ; Sterol 27-hydroxylase
- 刊名：Journal of Clinical Lipidology
- 出版年：2016
- 出版时间：July-August 2016
- 年：2016
- 卷：10
- 期：4
- 页码：1040-1044
- 全文大小：595 K
文摘
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CTX is a rare disease associated with xanthoma and multiple neurologic defects.
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CTX is due to mutations in CYP27A1 leading to high cholestanol levels.
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CTX can be a treated with chenodeoxycholic acid to lower cholestanol.
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Early diagnosis and treatment of CTX is required to limit long-term morbidity.