胱氨酸贮积症

定义 英文原文（暂无中文）

A rare lysosomal disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.

别名

胱氨酸转运蛋白缺陷症

基本事实

遗传方式

常染色体隐性

发病年龄

青少年期、成年期、儿童期、婴儿期

患病率

1-9 / 1 000 000

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 56

近两年的全球研究 499L2

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
  Developing consensus on rare disease care pathways and ERN integration across Europe: insights from stakeholder workshops and a Delphi study
  European journal of medical genetics · DOI · Europe PMC
• 2026-07
  Atlas of lysosomal aging reveals a metabolite signature shared with lysosomal storage disorders
  Science (New York, N.Y.) · DOI · Europe PMC
• 2026-07综述
  Reno-ocular syndromes: pathophysiological mechanisms linking kidney and ocular disorders
  Pediatric nephrology (Berlin, Germany) · DOI · Europe PMC
• 2026-07
  Unraveling the dual roles of MICAL2 in skeletal muscle physiology and fusion negative rhabdomyosarcoma tumor progression
  Cell death & disease · DOI · Europe PMC
• 2026-07
  Renal Transplant Outcomes in Pediatric Cystinosis Patients: A Comparative Analysis with Non-Cystinosis Controls
  Experimental and clinical transplantation : official journal of the Mi · DOI · Europe PMC
• 2026-07
  Practicability and Effectiveness of Anterior Segment Optical Coherence Tomography (AS-OCT) of the Feline Iris as a Potential Biomarker for Iris Melanoma: A Study of 76 Cases
  Veterinary ophthalmology · DOI · Europe PMC
• 2026-06
  Lysosome-derived methylated arginine is a signalling metabolite controlling the lipidome
  Nature cell biology · DOI · Europe PMC
• 2026-06综述
  Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis
  Nature reviews. Nephrology · DOI · Europe PMC
• 2026-06综述
  Soluble Guanylate Cyclase Modulators in Glaucoma and Ocular Fibrosis: Mechanisms, Translational Evidence, and Therapeutic Challenges
  Journal of ocular pharmacology and therapeutics : the official journal · DOI · Europe PMC
• 2026-06开放获取
  Nanoparticle-mediated inhibition of Yes-associated protein prevents corneal scarring after traumatic injury
  Materials today. Bio · DOI · Europe PMC
• 2026-06
  Prevalence and clinical impact of gastrointestinal symptoms in patients with cystinosis
  Molecular genetics and metabolism · DOI · Europe PMC
• 2026-06综述开放获取
  Importance of Recognizing Renal Tubular Disorders as a Cause of Bone Hypomineralization and Fractures in Adults
  Diagnostics (Basel, Switzerland)
• 2026-06
  Abstract
  JPGN reports
• 2026-06病例报告
  Silent but Severe: Transplant Renal Artery Stenosis Causing Acute Graft Dysfunction in a Child With Cystinosis
  Pediatric transplantation · DOI · Europe PMC
• 2026-06综述开放获取
  Hypophosphatemic rickets: diagnosis and treatment
  Archives of endocrinology and metabolism · DOI · Europe PMC
• 2026-05综述开放获取
  Next-Generation Sequencing and Variant Cataloguing for Screening and Diagnosis of Mucolipidoses and Other Lysosome-Related Organelle Disorders, Including Lysosomal Membrane or Transport Disorders
  Genes
• 2026-05开放获取
  The molecular architecture of tunneling nanotubes
  bioRxiv : the preprint server for biology
• 2026-05开放获取
  Beyond Identifier Matching: An Empirical Characterization of Failure Modes in Biomedical Knowledge Graph Integration
  medRxiv
• 2026-05
  Phenotypic Spectrum of HNF4α-Associated Fanconi Renotubular Syndrome
  Kidney international reports · DOI · Europe PMC
• 2026-05综述开放获取
  Renal Tubular Epithelial Cells as Central Hubs of Kidney Disease
  Diagnostics (Basel, Switzerland) · DOI · Europe PMC

境外已获批用于本病的药物 5L2

欧盟 2 项、美国 3 项。同一药物在两地各批一次的，会分别列出。

• Cystagon欧盟1997-06-23
  mercaptamine bitartrate
  官方记录
• Procysbi欧盟2013-09-05
  mercaptamine
  官方记录
• Cystagon美国1994-08-15
  Cysteamine
  官方记录
• Cystaran美国2012-10-02
  Cysteamine hydrochloride
  官方记录
• PROCYSBI美国2013-04-30
  cysteamine enteric coated
  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。

中国境外的在招试验 12L2

共 12 项。

• 尚未开始招募NCT07680751
  European Cystinosis Cohort 2
  观察性 · 2026/07/01Institut National de la Santé Et de la Recherche Médicale, France
  法国
• 尚未开始招募NCT07242261
  Non-invasive Characterisation of Oral Carcinomas in Patients With Fanconi Anaemia
  不适用 · 干预性 · 2026/04/01Institut Jean-Godinot
• 招募中NCT07319091
  Cystinosis and Mitochondrial Metabolism
  不适用 · 干预性 · 2025/12/08Hospices Civils de Lyon
  法国
• 招募中NCT06910813
  DFT383 in Pediatric Participants With Nephropathic Cystinosis
  I 期、II 期 · 干预性 · 2025/06/02Novartis Pharmaceuticals
  美国
• 招募中NCT05508009
  Early Trial of Allogeneic Hematopoietic Stem Cell Transplantation for Patients Who Will Receive a Kidney Transplant From the Same Donor
  I 期、II 期 · 干预性 · 2023/01/10Alice Bertaina
  美国
• 招募中NCT05959668
  Development of Health-related Quality of Life Instrument for Patients With Cystinosis
  观察性 · 2022/05/01Cystinose Stiftung
  德国
• 招募中NCT06213402
  RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs)
  观察性 · 2021/11/30Hospital Universitari Vall d'Hebron Research Institute
  西班牙
• 招募中NCT03919981
  CYSTEA-BONE Clinical Study
  观察性 · 2019/04/05Hospices Civils de Lyon
  法国、德国、意大利、土耳其
• 招募中NCT05901077
  European Cystinosis Cohort
  观察性 · 2017/04/20Institut National de la Santé Et de la Recherche Médicale, France
  法国
• 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
• 招募中NCT06065852
  National Registry of Rare Kidney Diseases
  观察性 · 2009/11/06UK Kidney Association
  英国
• 招募中NCT00359684
  Use of Cysteamine in the Treatment of Cystinosis
  观察性 · 1979/01/04National Human Genome Research Institute (NHGRI)
  美国

外部标识与链接