Zheng G P, Nian W, Shi X F, Xie Y B
Department of Hematology, Qinghai Provincial People's Hospital, Xining 810007, China.
Department of Geriatrics, Qinghai Provincial People's Hospital, Xining 810007, China.
Zhonghua Xue Ye Xue Za Zhi. 2024 Aug 14;45(8):795-800. doi: 10.3760/cma.j.cn121090-20240318-00100.
Chronic mountain sickness (CMS) or Monge syndrome is a disease that is prevalent at altitude above 2 500 meters. High altitude polycythemia (HAPC) is one subtype of CMS. EPAS1 and EGNL1 are the most critical high-altitude adaptation genes in the genome of the Tibetan population. The HIF-PHD-VHL system plays an important role in the pathogenesis of HAPC. The protease encoded by the SENP1 gene regulates hypoxia related transcription factors such as HIF and GATA to affect the expression of EPO or EPOR involved in red blood cell generation. With the development of genetic testing and omics technology, new progress in the fields of metabolomics, proteomics and metabolomics has been made in the pathogenesis of HAPC. The above new research results provide a preliminary basis for bone marrow hematoecology and hematopoietic regulation of HAPC. The diagnostic criteria for CMS have certain limitations, especially in patients with excessive erythrocytosis who should undergo genetic testing recommended for congenital and polycythemia vera. This article provides a review of the latest research on HAPC in various omics techniques, hematopoietic regulation and diagnostic processes which is more conducive to understand the pathogenesis. The clinical diagnosis of excessive erythrocytosis emphasizes the importance of genetic testing.
慢性高山病（CMS）或蒙赫综合征是一种在海拔2500米以上地区流行的疾病。高原红细胞增多症（HAPC）是CMS的一种亚型。EPAS1和EGNL1是藏族人群基因组中最关键的高原适应基因。HIF-PHD-VHL系统在HAPC的发病机制中起重要作用。SENP1基因编码的蛋白酶调节缺氧相关转录因子，如HIF和GATA，以影响参与红细胞生成的EPO或EPOR的表达。随着基因检测和组学技术的发展，在HAPC发病机制的代谢组学、蛋白质组学和代谢组学领域取得了新进展。上述新研究结果为HAPC的骨髓血液生态学和造血调控提供了初步依据。CMS的诊断标准有一定局限性，尤其是对于红细胞增多症患者，应进行针对先天性和真性红细胞增多症的基因检测。本文综述了HAPC在各种组学技术、造血调控和诊断过程方面的最新研究，这更有助于理解其发病机制。红细胞增多症的临床诊断强调了基因检测的重要性。
