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酸血症在中国的流行率

Yixing Zhang¹, Chuwen Peng¹, Lifang Wang¹

¹School of Clinical Medicine, Jining Medical University, Shandong, 272067, China.

Orphanet journal of rare diseases

|September 9, 2023

概括

propionic acidemia (PA) 是一种罕见的遗传性疾病. 这份审查详细介绍了PA的PA.

科学领域:

生物化学生物化学
遗传学是一个遗传学.
儿科儿科儿科

背景情况:

propionic 酸血症 (PA) 是一种罕见的自体逆性代谢障碍.
PA是PCCA或PCCB基因突变的结果,导致有毒代谢物积累.
早期和晚期发作的PA呈现出多样化和严重的临床表现,影响多个器官系统.

研究的目的:

概述最近的Propionic Acidemia病变发生,诊断和治疗方面的进展.
介绍流行病学数据和对中国PA患病率的见解.
为中国患者提供医疗护理信息.

主要方法:

对最近关于propionic acidemia的文献进行了评论.
对包括生物标志物检测在内的诊断策略的分析.
评估当前的治疗选择,包括肝移植.

主要成果:

在中国PA患者中确定了常见的PCCA和PCCB基因变异 (c.2002G>A和c.1301C>T).
这些变异常常与严重的临床症状有关.
来自活着的亲属捐赠者的肝脏移植是中国严重肺炎的可行治疗方法.

结论:

准确的诊断和及时的治疗对于改善PA患者的结果至关重要.
肝移植在中国为严重的肺炎病例提供了一个有前途的治疗选择.
进一步的风险效益分析对于指导移植决策至关重要.

关键词:

中国中国中国中国.流行病学流行病学基因型基因型基因型这是PCCA的PCCA.在PCCB中,PCCB是PCB.现象型现象型是一种表现型.普罗皮昂酸血症普罗皮昂酸血症

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