低磷酸酯酶症

定义 英文原文（暂无中文）

A rare, genetic metabolic disorder characterized by reduced activity of unfractionated serum alkaline phosphatase (ALP) and various symptoms from life-threatening, severely impaired mineralization at birth to musculo-skeletal pain in adulthood.

别名

磷酸乙醇胺尿症

基本事实

遗传方式

常染色体显性、常染色体隐性

发病年龄

各年龄段

患病率

<1 / 1 000 000（China）

相关基因 1来自下位疾病

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

临床表型 44

近两年的全球研究 529L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

• 2026-08
  Low alkaline phosphatase in adults: implications for the diagnosis of hypophosphatasia during evaluation for osteoporosis
  Osteoporosis international : a journal established as result of cooper · DOI · Europe PMC
• 2026-07
  Seventeen-year follow-up of hypophosphatasia diagnosed in middle-aged siblings harboring a novel intronic and a rare missense ALPL gene mutation
  Bone · DOI · Europe PMC
• 2026-07
  Persistently low serum alkaline phosphatase in adults: prevalence and clinical characteristics in a large tertiary care hospital
  Orphanet journal of rare diseases · DOI · Europe PMC
• 2026-07
  Integrated Genetic and Biochemical Approach to Patients with Bone Disorders Exhibiting Low Alkaline Phosphatase
  Calcified tissue international · DOI · Europe PMC
• 2026-07综述
  Dental manifestations of rare skeletal disorders: Diagnosis and treatment for the oral health care provider
  Journal of the American Dental Association (1939) · DOI · Europe PMC
• 2026-07病例报告
  Hypophosphatasia and collagen VI-related muscular dystrophy presenting with gait disturbance and recurrent fractures
  JCEM case reports · DOI · Europe PMC
• 2026-07
  The Journal of Bone and Mineral Research (JBMR) 40th anniversary celebration: the fourth decade (Part 2)
  Journal of bone and mineral research : the official journal of the Ame · DOI · Europe PMC
• 2026-07
  Timeliness of antiresorptive consolidation after anabolic therapy for primary fracture prevention: A US cohort study
  The Journal of clinical endocrinology and metabolism · 被引 1 · DOI · Europe PMC
• 2026-07
  Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework
  Journal of bone and mineral research : the official journal of the Ame · DOI · Europe PMC
• 2026-06
  Burden of disease in US patients with skeletal versus muscular or pain manifestations of hypophosphatasia: An analysis from the Global HPP Registry
  Bone · DOI · Europe PMC
• 2026-06
  Correction: Transition Care for Young People with Rare Bone and Mineral Conditions: A Scoping Review
  Advances in therapy · DOI · Europe PMC
• 2026-06病例报告开放获取
  Pycnodysostosis: Report of Two Novel CTSK Variants in a Child
  Clinics and practice · DOI · Europe PMC
• 2026-06
  Multi-omics analysis of genetic drivers linking aortic stenosis and left ventricular diastolic dysfunction in heart failure
  BioData mining · DOI · Europe PMC
• 2026-06综述
  [Metabolic bone disorders: what the internist must not overlook]
  Innere Medizin (Heidelberg, Germany) · DOI · Europe PMC
• 2026-06综述开放获取
  Mechanobiology of hypertrophic chondrocyte mineralization: Biomechanical regulation and therapeutic implications in skeletal disorders
  Mechanobiology in medicine · DOI · Europe PMC
• 2026-06
  Cleidocranial dysplasia caused by a novel de novo RUNX2 splice-site variant
  Human genome variation · DOI · Europe PMC
• 2026-06病例报告开放获取
  Neonatal osteogenesis imperfecta revealed by antenatal fractures: A case report
  Radiology case reports · DOI · Europe PMC
• 2026-06
  Orthodontic force induces local bone resorption in mild-type hypophosphatasia mouse model
  Journal of oral biosciences · DOI · Europe PMC
• 2026-06病例报告
  Odonto-hypophosphatasia with Tooth Agenesis: a Case Report
  The Chinese journal of dental research · DOI · Europe PMC
• 2026-06
  Impacts of genetic counseling on hypophosphatasia heterozygotes identified through carrier screening
  Journal of genetic counseling · DOI · Europe PMC

境外已获批用于本病的药物 2L2

欧盟 1 项、美国 1 项。同一药物在两地各批一次的，会分别列出。

• Strensiq欧盟2015-08-28
  asfotase alfa
  官方记录
• Strensiq美国2015-10-23
  Asfotase alfa
  官方记录

数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。

在中国开展的临床试验 2L2

按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。

当前没有检索到登记为可入组的试验。

中国境外的在招试验 8L2

共 8 项。

• 尚未开始招募NCT07594639
  GRACE II (General Retrospective Analysis of Commercial Experience With AGN1 LOEP)
  观察性 · 2026/06/01AgNovos Healthcare, LLC
  比利时
• 招募中NCT07390240
  The Effect of Monoallelic Variants in the ALPL Gene on the Natural Course of Hypophosphatasia in Russia
  观察性 · 2025/12/29AstraZeneca
  Russia
• 招募中NCT07179640
  A Study to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of ALE1 in Healthy Adults and Adults With Hypophosphatasia in Order to Identify Suitable Doses of ALE1
  I 期、II 期 · 干预性 · 2025/09/30Alesta Therapeutics
  德国、新西兰、英国
• 招募中NCT06574282
  Characteristics of Hypophosphatasia in Adult Patients in Rheumatology and Their Value in Developing an Algorithm to HPP-diagnosis - the COHIR Multi-center Study
  观察性 · 2024/08/25University of Bonn
  德国
• 招募中NCT05596539
  Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia (REG-HYPO)
  观察性 · 2023/03/22Assistance Publique - Hôpitaux de Paris
  法国
• 招募中NCT05234567
  A Prospective Sub-Study of the Global Hypophosphatasia Registry
  观察性 · 2022/08/25Alexion Pharmaceuticals, Inc.
  美国
• 招募中NCT02237625
  Natural History Study of Patients With Hypophosphatasia (HPP)
  观察性 · 2014/09Duke University
  美国
• 招募中NCT01793168
  Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
  观察性 · 2010/07Sanford Health
  澳大利亚、美国

外部标识与链接