谷固醇血症

定义 英文原文（暂无中文）

Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.

别名

植物固醇血症

基本事实

遗传方式

常染色体隐性

发病年龄

各年龄段

患病率

<1 / 1 000 000

相关基因 2

临床表型 13

近两年的全球研究 156L2

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综述
  Molecular genetic basis and clinical heterogeneity of sitosterolemia: focusing on the mutation spectrum and pathogenic mechanisms of ABCG5/ABCG8 genes
  Frontiers in nutrition · DOI · Europe PMC
• 2026-07综述
  The Spectrum of Genetic Causes of Familial Hypercholesterolemia Phenotype
  Current atherosclerosis reports · 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病例报告
  Familial Hypercholesterolemia Combined With Sitosterolemia
  JACC. Case reports · 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综述开放获取
  Phytosterols in human health: Biochemical mechanisms of action and disease-modulating effects
  World journal of biological chemistry · 被引 1 · DOI · Europe PMC
• 2026-05病例报告开放获取
  Novel ABCG8 Mutation in Pediatric Sitosterolemia: A Case Report of Siblings with Hemolytic Anemia
  Hematology, transfusion and cell therapy · DOI · Europe PMC
• 2026-05开放获取
  Cost-utility analysis of add-on ezetimibe to moderate-intensity statin versus moderate-intensity statin alone for secondary prevention in patients with acute coronary syndrome intolerant to high-intensity statin therapy in Thailand
  Frontiers in pharmacology · DOI · Europe PMC
• 2026-05
  ABCG5-related dysregulation of phytosterol metabolism and growth impairment: a family-based observational study
  Scientific reports · DOI · Europe PMC
• 2026-05开放获取
  Subcutaneous nodules on the elbows of a teenager
  JAAD case reports · DOI · Europe PMC
• 2026-05病例报告开放获取
  Novel &lt;i&gt;ABCG5&lt;/i&gt; and &lt;i&gt;ABCG8&lt;/i&gt; Variants in Sitosterolemia: Insights Into Haemolysis, Calcium Dysregulation and Therapeutic Challenges
  Human mutation · DOI · Europe PMC
• 2026-05病例报告开放获取
  Promises and Pitfalls of Whole Exome Sequencing in Therapy-Resistant Chronic Thrombocytopenia in Childhood: A Case Report
  Journal of personalized medicine · DOI · Europe PMC
• 2026-05开放获取
  Rare variants in cholesterol transporter genes in patients with lipid metabolism disorders
  Vavilovskii zhurnal genetiki i selektsii · DOI · Europe PMC
• 2026-04
  Population enrichment of ABCG5/ABCG8 variants in Qatar and genetic estimates of sitosterolemia burden
  Journal of clinical lipidology · DOI · Europe PMC
• 2026-04病例报告
  Phytosterolemia-associated histiocytosis as a diagnostic challenge
  Journal of clinical lipidology · DOI · Europe PMC
• 2026-04
  Sitosterolemia misdiagnosed as homozygous familial hypercholesterolemia: A diagnostic challenge
  American journal of preventive cardiology · DOI · Europe PMC
• 2026-04开放获取
  Genome sequencing identifies monogenic causes in adults with metabolic diseases
  Journal of the Endocrine Society · DOI · Europe PMC
• 2026-04病例报告开放获取
  Non-Responder to Inclisiran and Evolocumab-A Female Patient with Heterozygous Familial Hypercholesterolemia and Statin Intolerance
  Diseases (Basel, Switzerland) · DOI · Europe PMC
• 2026-03开放获取
  Evaluation of the resilience status of children with inherited metabolic disorders and the levels of their mothers' burnout and resilience
  BMC pediatrics · DOI · Europe PMC
• 2026-03综述
  Genetic dyslipidemias
  Annales d'endocrinologie · DOI · Europe PMC

外部标识与链接