Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? - Call for a long-term follow-up of premature loss of primary teeth

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• 作者：Mari Mori^a ; ^{mari.mori@duke.edu} ; Stephanie L. DeArmey^a ; ^{stephanie.dearmey@duke.edu} ; Thomas J. Weber^b ; ^{thomas.weber2@duke.edu} ; Priya S. Kishnani^a ; ^{priya.kishnani@duke.edu}
• 关键词：Hypophosphatasia ; Odontohypophosphatasia ; Premature tooth loss ; Metabolic bone disease ; Tissue-nonspecific alkaline phosphatase
• 刊名：Bone Reports
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：5
• 期：Complete
• 页码：228-232
• 全文大小：214 K
• 卷排序：5

文摘

A diagnosis of hypophosphatasia is often delayed despite childhood symptoms. Early diagnosis, and if needed, timely treatment, may reduce long-term HPP sequelae. We present a retrospective case series of 9 patients diagnosed as adults. Eight of the 9 patients in our case series had dental and other symptoms as children. Children with apparent isolated odontohypophosphatasia need long-term follow-up.