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 178L2

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。

• 2026-10
  Sitosterolemia presenting as unexplained cytopenias: hematologic manifestations and genetic spectrum
  Blood research · DOI · Europe PMC
• 2026-09综述开放获取
  Familial Hypercholesterolemia
  Methodist DeBakey cardiovascular journal · DOI · Europe PMC
• 2026-09
  Hematologic manifestations of sitosterolemia: Phenotypic spectrum and long-term outcomes in seven genetically confirmed patients
  Blood cells, molecules & diseases · DOI · Europe PMC
• 2026-09综述
  Sitosterolemia: evolving strategies for earlier diagnosis
  Current opinion in lipidology · DOI · Europe PMC
• 2026-09综述病例报告开放获取
  Phenotypic and Genotypic Landscape of Sitosterolemia in China: Including a Rare Case With Nephronophthisis
  Molecular genetics & genomic medicine · DOI · Europe PMC
• 2026-09
  Sitosterolemia in pregnancy: A rare lipid disorder and its obstetric management
  Obstetric medicine · DOI · Europe PMC
• 2026-08开放获取
  Increased LDL-C reduction with ezetimibe in ketogenic diet-induced hypercholesterolemia
  Lipids in health and disease · DOI · Europe PMC
• 2026-08开放获取
  Genetic Spectrum of Familial Hypercholesterolemia in Russian North-West Registry: Focus on Correlation Between Clinical and Genetic Diagnosis
  Journal of cardiovascular development and disease · DOI · Europe PMC
• 2026-08
  Sitosterolemia as a treatable and underrecognized cause of chronic thrombocytopenia beyond ITP: A targeted screening study
  Journal of clinical lipidology · DOI · Europe PMC
• 2026-08
  Reverse Cascade Genetic Screening for Revealing New Cases of Familial Hypercholesterolemia in Russia: Pilot Project
  Frontiers in bioscience (Scholar edition) · DOI · Europe PMC
• 2026-08开放获取
  When Lipid-Lowering Therapy Fails: Lessons From Functional Genomics and Precision Lipidology
  JACC. Case reports · DOI · Europe PMC
• 2026-07
  Beyond sitosterol: A multivariable sterol model improves diagnosis of pediatric sitosterolemia in the gray zone
  Journal of clinical lipidology · DOI · Europe PMC
• 2026-07综述开放获取
  Decoding Primary Hyperlipoproteinemias: A Focus on the Pathogenesis and Diagnosis of Familial Hypercholesterolemia and Familial Combined Hyperlipidemia
  Diagnostics (Basel, Switzerland) · DOI · Europe PMC
• 2026-07综述开放获取
  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综述开放获取
  Adenosine triphosphate-binding cassette transporters: key players in maintaining fetal health during pregnancy
  Frontiers in endocrinology · DOI · Europe PMC
• 2026-07综述开放获取
  The Spectrum of Genetic Causes of Familial Hypercholesterolemia Phenotype
  Current atherosclerosis reports · DOI · Europe PMC
• 2026-07开放获取
  Cocrystals of β-Sitosterol with Propionic Acid Improve Postprandial Lipid Response and Long-Term Adaptation to Obesogenic Diets in Hamsters, Surpassing the Effects of Commercial β-Sitosterol
  Nutrients · DOI · Europe PMC
• 2026-07病例报告开放获取
  Homozygous familial hypercholesterolemia, experience with Evinacumab treatment in two Mexican pediatric patients: case report
  Frontiers in genetics · DOI · Europe PMC
• 2026-06综述开放获取
  From Phenotype to Genotype and Beyond: Insights into Familial Hypercholesterolemia and Familial Hypertriglyceridemia
  Medicina (Kaunas, Lithuania) · 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 · DOI · Europe PMC

外部标识与链接