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 569L2
2024/10 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。
- 2026-11开放获取Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method
- 2026-09病例报告开放获取Retinal Features and Preserved Vision in ENPP1 Deficiency: Long-Term Insights from Multimodal Imaging and Electrophysiology
- 2026-09开放获取Health-Related Quality of Life in Children with X-Linked Hypophosphatemia Treated with Burosumab: Real-World Data from a German-Swiss Study
- 2026-09病例报告开放获取Burosumab as bridging therapy in autosomal dominant hypophosphatemic rickets with femoral fracture nonunion and iron deficiency
- 2026-09病例报告Chronic hypophosphatemia leading to the diagnosis of autosomal recessive hypophosphatemic rickets type 2 caused by a novel pathogenic variant in ENPP1
- 2026-09综述Fibroblast growth factor 23 (FGF23): From synthesis to cleavage
- 2026-09Two variants in SLC34A3 in a patient with X-linked hypophosphatemia: a diagnostic and therapeutic dilemma
- 2026-08病例报告开放获取Orthopaedic diagnostic pitfalls in fibroblast growth factor 23-mediated hypophosphatemic rickets/osteomalacia in fibrous dysplasia/McCune-Albright syndrome: Two burosumab-treated cases
- 2026-08开放获取Mutational Landscape of Primary Hyperoxaluria in Morocco: Update and Implications for Diagnosis
- 2026-08开放获取Clinical and genetic profiles of postnatal patients with skeletal dysplasia in Guangxi during 8 years: a single-center experience
- 2026-08开放获取Burosumab improves alkaline phosphatase and rickets severity in X-linked hypophosphatemia: 3-year SUNFLOWER analysis
- 2026-08综述FGF23 - A hormone produced by bone and has many faces
- 2026-08开放获取Unlocking Growth: Muscle-Bone Interactions in Cystinosis
- 2026-08病例报告开放获取Continuation of burosumab during pregnancy in a patient with X-linked hypophosphatemia
- 2026-08综述开放获取Advances in FGF/FGFR Signaling: Implications for Disease and Therapy
- 2026-08病例报告开放获取Late diagnosis of SLC34A3-related hereditary hypophosphatemic osteomalacia following a low-energy proximal humeral 4-part fracture
- 2026-08病例报告开放获取Noncanonical Splice Site Disruption: +4 Intronic Variant in Phosphate-Regulating Endopeptidase Homolog, X-linked (PHEX Gene) Supported by In Silico Analysis in X-linked Hypophosphatemic Rickets
- 2026-08Three Generations of X-Linked Hypophosphataemia: The Inter-generational Impact of Burosumab Across the Lifespan
- 2026-08病例报告Dental phenotypes associated with novel PHEX variants in X-linked hypophosphatemia
- 2026-08Assessment of bone involvement by DXA and HR-pQCT in patients with X-linked hypophosphatemia
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
尚未获批的在研药物（2 项）
这些药已被欧盟或美国的监管机构认定为罕见病用药（英文 orphan drug designation，中文行业里通称「孤儿药资格」——「孤儿」说的是这类药市场太小、没有厂商愿意认领，不是在说病人）。但这只是一种监管身份：意味着监管机构给予研发上的激励，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）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。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 10L2
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。
共 10 项。
- 尚未开始招募NCT07666269Morphology in Oral Rare Syndromes & Artificial Intelligence for Clinical Diagnosis法国
- 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）