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 536L2

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
  Journal of inherited metabolic disease · DOI · Europe PMC
• 2026-10开放获取
  Small populations, big impact: leveraging rare disease gene therapies to benefit millions
  The Journal of clinical investigation · DOI · Europe PMC
• 2026-09综述开放获取
  Advanced Ophthalmic Drug Delivery in Homocystinuria Type CblC: A Translational Review of Ophthalmic Pathologies and Therapeutic Opportunities
  Pharmaceutics · DOI · Europe PMC
• 2026-09
  Birth characteristics and growth outcome in children with nephropathic cystinosis compared with other chronic kidney disease entities prior to kidney replacement therapy
  Pediatric nephrology (Berlin, Germany) · DOI · Europe PMC
• 2026-09开放获取
  Urinary YKL-40 as a diagnostic biomarker for cystinosis
  JCI insight · DOI · Europe PMC
• 2026-09开放获取
  Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye
  Molecular genetics and metabolism reports · DOI · Europe PMC
• 2026-09综述
  Cystinosis-associated metabolic bone disease: pathogenesis and outcome
  Pediatric nephrology (Berlin, Germany) · DOI · Europe PMC
• 2026-09综述开放获取
  Artesunate in Ferroptosis and Cuproptosis Regulation: Context-Dependent Mechanisms, Interplay, and Therapeutic Implications
  International journal of molecular sciences · DOI · Europe PMC
• 2026-09开放获取
  The HEAT Repeat Protein MROH1 Deficiency Leads to Reduced Circulating Thyroid Hormone Levels in Mice
  Endocrinology, diabetes & metabolism · DOI · Europe PMC
• 2026-09综述
  A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders
  Journal of inherited metabolic disease · 被引 1 · DOI · Europe PMC
• 2026-08开放获取
  Unlocking Growth: Muscle-Bone Interactions in Cystinosis
  Kidney360 · DOI · Europe PMC
• 2026-08开放获取
  Neurocognitive and Motor Performance in Pediatric Kidney Transplant Recipients: A Cross-Sectional Controlled Study
  Children (Basel, Switzerland) · DOI · Europe PMC
• 2026-08
  Cystinosin/Ers1 functions in redox homeostasis in the early secretory pathway
  Molecular biology of the cell · DOI · Europe PMC
• 2026-08开放获取
  10th International Conference on Osteoimmunology: Interactions of the Immune and Skeletal Systems
  JBMR plus
• 2026-08
  AI Structural Biology in Nephrology: Powerful Scaffolds, Fragile Certainties
  Journal of the American Society of Nephrology : JASN · DOI · Europe PMC
• 2026-08开放获取
  Bcl-2-Dependent Persistence of Mononuclear Phagocytes Promotes Ocular Fibrosis
  International journal of molecular sciences · DOI · Europe PMC
• 2026-08开放获取
  Immune monitoring by Torque Teno virus load in addition to virus-specific T cells after pediatric kidney transplantation
  Clinical kidney journal · DOI · Europe PMC
• 2026-08综述开放获取
  miR-29b as an Anti-Fibrotic Therapeutic: Mechanisms, Disease Biology and Translational Opportunities
  Cells · DOI · Europe PMC
• 2026-08
  Long-Term Outcomes of Renal Transplantation in Patients with Cystinosis
  Transplantation proceedings · DOI · Europe PMC
• 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

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。

中国境外的在招试验 11L2

共 11 项。

• 尚未开始招募NCT07680751
  European Cystinosis Cohort 2
  观察性 · 2026/09/01Institut 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