低磷酸盐症病例研究：一种以低碱性磷酸酶为特征的诊断不足的骨骼疾病。

IF 1.2 4区医学

Journal of the American Association of Nurse Practitioners Pub Date : 2024-11-26 DOI:10.1097/JXX.0000000000001099

Leslie Moro

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引用次数: 0

摘要

摘要：低磷酸盐血症（HPP）是一种罕见的遗传代谢性骨病，诊断率低。虽然这种疾病有多种形式，但根据发病年龄、症状和严重程度，HPP 的特征是血清碱性磷酸酶水平低、骨折和牙科并发症。HPP 的诊断依据是临床、实验室和放射学检查结果。对导致 HPP 的 ALPL 基因变异进行基因检测可确诊 HPP。将 HPP 与骨质疏松症等其他更常见的骨骼疾病区分开来非常重要，因为这些疾病的治疗方法大不相同。虽然目前还没有治愈 HPP 的方法，但治疗应该是综合的、多学科的。

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A case study of hypophosphatasia: An underdiagnosed bone disorder characterized by low alkaline phosphatase.

Abstract: Hypophosphatasia (HPP) is a rare genetic metabolic bone disorder that is underdiagnosed. Although there are many forms of this disease, based on age of onset, symptoms, and severity, HPP is characterized by low serum alkaline phosphatase levels, bone fractures, and dental complications. Diagnosis of HPP is made from clinical, laboratory, and radiologic findings. Genetic testing for an ALPL gene variant responsible for causing HPP confirms a molecular diagnosis. Distinguishing HPP from other more common bone disorders, such as osteoporosis, is important as the treatment for these diseases differs greatly. Although there is no known cure for HPP, treatment should be holistic and multidisciplinary.

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来源期刊

Journal of the American Association of Nurse Practitioners Nursing-General Nursing

自引率

16.70%

发文量

172

期刊介绍： The Journal of the American Association of Nurse Practitioners (JAANP) is a monthly peer-reviewed professional journal that serves as the official publication of the American Association of Nurse Practitioners. Published since 1989, the JAANP provides a strong clinical focus with articles related to primary, secondary, and tertiary care, nurse practitioner education, health policy, ethics and ethical issues, and health care delivery. The journal publishes original research, integrative/comprehensive reviews, case studies, a variety of topics in clinical practice, and theory-based articles related to patient and professional education. Although the majority of nurse practitioners function in primary care, there is an increasing focus on the provision of care across all types of systems from acute to long-term care settings.