遗传性代谢病在血液系统的异常表现

Hematological abnormality in inherited metabolic diseases

遗传性代谢病种类多,发病率低,临床表现多样且非特异。遗传代谢病主要影响神经系统,也会影响血液系统,表现为血细胞的形态、数目及骨髓异常。目前临床对遗传代谢病的血液系统异常认识不足,易造成误诊。文章主要对伴有血液系统异常的5大类遗传性代谢病(溶酶体病、维生素代谢障碍、有机酸及氨基酸代谢障碍和其他类疾病)的异常血液表现进行综述,有助于疾病的早期诊断。

There are a variety of inherited metabolic diseases （IMD）, the incidence is low and clinical manifestations are not characteristic. IMD primarily affect not only the nervous system, but also the blood system, which characterized by the abnormalities of blood cells and bone marrow. Because of some clinician＇s lack of this knowledge, some patients are prone to be misdiagnosed. To promote early diagnosis, this article reviews five groups of IMD （lysosomal storage disease, vitaminopathies, organic aeiduria, aminoacidopathies and others） and different hematological abnormal manifestations.