کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2792326 1568667 2016 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? – Call for a long-term follow-up of premature loss of primary teeth
ترجمه فارسی عنوان
سری موارد: Odontohypophosphatasia یا تشخیص اشتباه Hypophosphatsia شروع در دوران کودکی/بزرگسالی؟ درخواست پیگیری طولانی مدت از دست دادن زودرس دندان های اولیه
کلمات کلیدی
هیپوفسفاتازیا؛ Odontohypophosphatasia؛ از دست دادن دندان پیش از موعد؛ بیماری استخوانی متابولیک؛ آلکالن فسفاتاز غیراختصاصی بافتی
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی علوم غدد
چکیده انگلیسی


• 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.

IntroductionHypophosphatasia, a metabolic bone disease caused by a tissue-nonspecific alkaline phosphatase deficiency, leads to undermineralization of bone and/or teeth, impaired vitamin B6 metabolism, and a spectrum of disease presentation. At the mild end of the spectrum, it presents as pathologic fractures in later adulthood. Patients with isolated dental manifestations, typically presenting as premature loss of primary teeth, are classified as having odontohypophosphatasia (odontoHPP). A subset of patients diagnosed with odontoHPP in childhood can later develop extra-dental manifestations that constitute childhood- or adult-onset hypophosphatasia.Case reports: methods/resultsRetrospective data related to onset, detailed clinical course, and method of diagnosis were collected as part of a natural history of adult patients with hypophosphatasia.Of 9 initial patients, all had low serum alkaline phosphatase levels for their age and gender at adult presentation (Table 2). The majority (8/9) demonstrated childhood dental signs of hypophosphatasia as the initial clinical manifestation: premature loss of primary teeth (7/9), absent primary teeth (1/9), and delayed loss of primary teeth (1/9). Despite childhood dental presentation and/or other signs/symptoms, diagnosis of hypophosphatasia was delayed 20–54 years (median = 46) since the primary tooth problems and 8–45 years (median = 27) since the first fracture or onset of a major adult tooth problem.ConclusionPatients with primary tooth loss in childhood were often diagnosed with hypophosphatasia later in life. Pediatric patients classified as having odontoHPP under present practice can manifest significant disease burden later in life.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Bone Reports - Volume 5, December 2016, Pages 228–232
نویسندگان
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