This article focuses on a case study of sitosterolemia in a child who initially presented with hemolytic anemia and thrombocytopenia. Sitosterolemia is a rare autosomal recessive lipid metabolism disorder, difficult to diagnose due to its non-typical clinical manifestations. The 8-year-old patient was initially misdiagnosed with pyruvate kinase deficiency. Comprehensive biochemical and molecular biology analyses, including gene sequencing, eventually led to the correct diagnosis of sitosterolemia. This case highlights the complexity and diagnostic challenges of sitosterolemia, emphasizing the need for increased awareness and accurate diagnosis in patients presenting with similar symptoms.
报道1例表现为溶血性贫血和血小板减少的儿童谷固醇血症病例。谷固醇血症是一种罕见的常染色体隐性脂质代谢障碍，由于其非典型临床表现，诊断具有挑战性。研究强调了识别此病的重要性，尤其是在表现为溶血性贫血和血小板减少的患者中。案例涉及1例最初被误诊为丙酮酸激酶缺乏的8岁儿童。进行了详细的生化和分子分析，包括基因测序。结果显示ABCG5基因的纯合突变，确诊为谷固醇血症。这一病例强调了需要综合诊断方法和提高临床的认识。通过分析1例儿童病例，展示了谷固醇血症的复杂性和诊断难度。这名8岁儿童最初被误诊为丙酮酸激酶缺乏症，后经过全面的生化和分子生物学分析，包括基因测序，最终确诊为谷固醇血症。该病例表明，对于表现为溶血性贫血和血小板减少的患者，医生需要考虑更广泛的诊断可能性，以减少误诊。这一研究强调了对谷固醇血症的认识和准确诊断的重要性。.