溶酶体酸性脂肪酶缺乏症

定义

一种罕见的进行性代谢性肝病，由溶酶体酸脂肪酶的显著至完全缺乏所致，以血脂异常和大量脂质积聚为特征，导致肝肿大和肝功能障碍、脾肿大和加速的动脉粥样硬化。

别名

LAL缺乏症

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、新生儿期

患病率

1-9 / 1 000 000（Czech Republic）

临床表型 49

近两年的全球研究 118L2

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。

• 2026-07
  Two cases of late-onset lysosomal acid lipase deficiency with Achilles tendon thickening
  Journal of clinical lipidology · DOI · Europe PMC
• 2026-07
  Liver-specific gene therapy based on self-complementary adeno-associated virus for lysosomal acid lipase deficiency
  Frontiers in pharmacology · DOI · Europe PMC
• 2026-06综述
  Genetic Influence on LDL-Cholesterol Levels: Role of Polygenic Risk Scores and Lp(a) Beyond Monogenic Hypercholesterolemia
  Genes · DOI · Europe PMC
• 2026-06综述开放获取
  Genetic Influence on LDL-Cholesterol Levels: Role of Polygenic Risk Scores and Lp(a) Beyond Monogenic Hypercholesterolemia
  Genes
• 2026-06
  Abstract
  JPGN reports
• 2026-05综述开放获取
  Lean Metabolic-Dysfunction-Associated Steatotic Liver Disease (MASLD): Pathophysiology, Diagnostic Challenges, Clinical Outcomes, and Management
  Diseases (Basel, Switzerland) · DOI · Europe PMC
• 2026-05综述开放获取
  Evidence-based clinical practice guidelines for metabolic dysfunction-associated steatotic liver disease (MASLD) 2026
  Journal of gastroenterology · 被引 1 · DOI · Europe PMC
• 2026-04开放获取
  Clinical, Laboratory, and Molecular Characteristics of <i>GPD1</i> Gene Variants: A Cause of Hepatomegaly and Hepatic Steatosis in Early Childhood
  Gastroenterology research and practice · DOI · Europe PMC
• 2026-04开放获取
  Unveiling trends: insights into medicines reimbursement recommendations and health technology management in Ireland (2018-2023)
  International journal of technology assessment in health care · DOI · Europe PMC
• 2026-04综述开放获取
  CRISPR-Cas9 Therapeutics in Early Clinical Development: Delivery and Molecular Diagnostics
  Cells · 被引 1 · DOI · Europe PMC
• 2026-04病例报告
  The role of lysosomal acid lipase deficiency in dyslipidemia and liver disorders
  Revista espanola de enfermedades digestivas · DOI · Europe PMC
• 2026-03开放获取
  Real-World Study of Management and Outcomes of Patients with Lysosomal Acid Lipase Deficiency (LAL-D) in France
  Advances in therapy · DOI · Europe PMC
• 2026-03综述开放获取
  Pediatric Cholestasis: A Practical Approach to Histological Diagnosis
  Diagnostics (Basel, Switzerland) · DOI · Europe PMC
• 2026-03开放获取
  Letter to the Editor: 'Rare but relevant: Genetic liver disease in the general medical setting'
  Clinical medicine (London, England) · DOI · Europe PMC
• 2026-02综述开放获取
  Cyclodextrins as Modulators of Regulated Cell Death: Implications for Immunometabolism and Therapeutic Innovation
  Pharmaceutics · DOI · Europe PMC
• 2026-02综述开放获取
  Atherogenic Dyslipidemia in Children and Adolescents: Current Evidence, Clinical Challenges, and Future Perspectives
  Journal of cardiovascular development and disease · DOI · Europe PMC
• 2026-02综述
  The imperative for national legislation on rare diseases in China: A policy review and call to action
  Intractable & rare diseases research · 被引 2 · DOI · Europe PMC
• 2026-01综述病例报告开放获取
  Best Practices for the Nutritional Management of Infantile-Onset Lysosomal Acid Lipase Deficiency: A Case-Based Discussion
  Nutrients · DOI · Europe PMC
• 2026-01综述开放获取
  Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care
  Journal of inherited metabolic disease · 被引 1 · DOI · Europe PMC
• 2025-12开放获取
  Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions
  World journal of methodology · 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。

• Kanuma欧盟2015-08-28
  sebelipase alfa
  官方记录
• Kanuma美国2015-12-08
  sebelipase 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。

中国境外的在招试验 3L2

共 3 项。

• 招募中NCT05619900
  Registry of Patients Diagnosed With Lysosomal Storage Diseases
  观察性 · 2022/05/31University of California, San Francisco
  美国
• 招募中NCT04532047
  PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
  I 期 · 干预性 · 2021/07/01University of California, San Francisco
  美国
• 招募中NCT01633489
  Lysosomal Acid Lipase (LAL) Deficiency Registry
  观察性 · 2013/05/30Alexion Pharmaceuticals, Inc.
  澳大利亚、比利时、巴西、保加利亚、加拿大、克罗地亚、捷克、法国 等 22 国

外部标识与链接