低磷性佝偻病
Hypophosphatemic rickets
定义 英文原文（暂无中文）
A group of genetic, renal phosphate wasting disorders characterized by hypophosphatemia, rickets, and normal serum levels of calcium. Characteristic clinical features include slow growth/short stature, bone pain and bone deformities.
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、X 连锁显性
- 发病年龄
- 各年龄段
相关基因 6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。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| DMP1 | dentin matrix acidic phosphoprotein 1 | ORPHA:289176 |
| ENPP1 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | ORPHA:289176 |
| FGF23 | fibroblast growth factor 23 | ORPHA:89937 |
| PHEX | phosphate regulating endopeptidase X-linked | ORPHA:89936 |
| SLC34A1 | solute carrier family 34 member 1 | ORPHA:157215 |
| SLC34A3 | solute carrier family 34 member 3 | ORPHA:157215 |
近两年的全球研究 543L2
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。
- 2026-08A Diagnostic Dilemma: Hypophosphatemic Rickets Unmasking Tyrosinemia Type 1: A Case Report
- 2026-07病例报告Autosomal dominant hypophosphatemic rickets caused by a novel pathogenic variant in <i>FGF23</i>
- 2026-07病例报告A case of vitamin D-dependent rickets type 2A presenting with hypophosphatemia without hypocalcemia
- 2026-07Successful Transition in Rare Metabolic Bone Diseases: One-Year Outcomes of a Multidisciplinary Pediatric-Adult Program
- 2026-07Insight into Natural History and Phenotype in Untreated Adults with X-Linked Hypophosphatemia
- 2026-07综述When X Does Not Mark the Spot: Autosomal Dominant and Recessive Forms of Renal Hypophosphatemic Rickets and Osteomalacia
- 2026-07Hyperparathyroidism after 3 years of burosumab in children affected with X-linked hypophosphatemia
- 2026-07综述病例报告[Autosomal recessive hypophosphatemic rickets/osteomalacia caused by a novel mutation in the DMP1 gene: a case report and literature review]
- 2026-07Second interim analysis of the post-authorisation safety study (PASS) of burosumab in paediatric patients with X-linked hypophosphataemia
- 2026-07病例报告Phenotypic diversity in autosomal recessive hypophosphatemic rickets type 2
- 2026-06Iron matters: a treatable modifier in autosomal dominant hypophosphatemic rickets: lessons for the clinical nephrologist
- 2026-06综述开放获取Sex specific effects of irisin on the skeleton
- 2026-06病例报告Atypical Presentation of Raine Syndrome in a Middle-aged Lady
- 2026-06综述开放获取Importance of Recognizing Renal Tubular Disorders as a Cause of Bone Hypomineralization and Fractures in Adults
- 2026-06综述开放获取Hypophosphatemia in Patients Receiving Intravenous Iron Supplementation for Iron-Deficiency Anemia: A Narrative Review
- 2026-06病例报告开放获取Zoledronic Acid in the Management of Melorheostosis of Radius and Ulna - A Rare Case Report with Literature Review
- 2026-06综述开放获取Hypophosphatemic rickets: diagnosis and treatment
- 2026-05病例报告X-linked Hypophosphatemic Rickets Revealed by Exome Sequencing: A Pediatric Case Report of a PHEX Pathogenic Variant
- 2026-05病例报告开放获取Long-term survival and phenotypic expansion in siblings with generalized arterial calcification of infancy
- 2026-05病例报告A novel mutation in glycogen storage disease type XI presenting with neonatal cholestasis and infection-triggered hepatic flares
境外已获批用于本病的药物 1L2
欧盟 1 项、美国 0 项。同一药物在两地各批一次的，会分别列出。
「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。
药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。
- Crysvita欧盟2018-02-19burosumab官方记录
已获孤儿药资格、尚未获批的在研药物（2 项）
孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，不代表这个药已被证明有效，也不代表将来一定能上市。绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。
- Secalciferol美国1993-07-26Treatment of familial hypophosphatemic rickets.官方记录
- extracellular domain of Ectonucleotide Pyrophosphatase/Phosphodiestera美国2018-06-11Treatment of ectonucleotide pyrophosphatase/phosphodiesterase 1 deficiency (generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2)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 3L2
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。
其他状态的试验（3 项）
- 状态未知NCT03820518Using Different Doses of Active Vitamin D Combined With Neutral Phosphate in Children With X-linked Hypophosphatemia中国研究中心 1 个：Beijing
- 已完成NCT04842019Study to Assess the Safety, Pharmacokinetics and Efficacy of KRN23 in Adult Chinese Patients With XLH中国研究中心 5 个：Beijing、Guangzhou、Hangzhou、Shanghai
- 已完成NCT04842032Study to Assess the Safety, Pharmacokinetics and Efficacy of KRN23 in Pediatric Chinese Patients With XLH中国研究中心 5 个：Beijing、Guangzhou、Shanghai、Wuhan
中国境外的在招试验 13L2
这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。
法国7德国5美国5英国5意大利3西班牙3加拿大2日本2荷兰2澳大利亚1Oman1土耳其1韩国1比利时1另有 13 个国家/地区
共 13 项。
- 尚未开始招募NCT07666269Morphology in Oral Rare Syndromes & Artificial Intelligence for Clinical Diagnosis法国
- 尚未开始招募NCT07607600Treatment Patterns, Biochemical Profiles and Clinical Outcomes in Adults With X-Linked Hypophosphatemia澳大利亚、加拿大、法国、德国、意大利、日本、荷兰、美国
- 招募中NCT07183579Effective Dosing of Burosumab in XLH英国
- 招募中NCT06921720Phosphorus-31 Spectroscopy in Phosphate Diabetes法国
- 招募中NCT06525636A First-in-human Study of KK8123 in Adults With X-linked Hypophosphatemia法国、德国、西班牙、美国
- 招募中NCT06302439PROPEL - A Prospective Observational Patient Registry to Evaluate ENPP1 and ABCC6 Deficiency加拿大、德国、意大利、日本、Oman、西班牙、土耳其、英国 等 9 国
- 招募中NCT06462547ADAPT Study: Long-term Safety Study of INZ-701 in Patients With ENPP1 Deficiency and ABCC6 Deficiency法国、德国、英国、美国
- 招募中NCT06202027Post Marketing Surveillance Study to Observe Safety and Effectiveness of CRYSVITA® in S. Korean Patients韩国
- 招募中NCT04159675Burosumab and 1-25 (OH) Vitamin D on Human Osteoblasts法国
- 招募中NCT03771105The Impact of Phosphate Metabolism on Healthy Aging美国
- 招募中NCT03193476Registry for Patients With X-Linked Hypophosphatemia比利时、保加利亚、捷克、丹麦、法国、德国、匈牙利、爱尔兰 等 20 国
- 招募中NCT06065852National Registry of Rare Kidney Diseases英国
- 可获取（拓展性用药）NCT03775187Expanded Access to Burosumab
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）