Yang Jing, Chen Qianlong, Yang Hang, Hua Baolai, Zhu Tienan, Zhao Yongqiang, Zhu Huadong, Yu Xuezhong, Zhang Li, Zhou Zhou
Emergency Department, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory Service, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Biomed Res Int. 2016;2016:3927635. doi: 10.1155/2016/3927635. Epub 2016 Nov 29.
Porphyria is a group of eight metabolic disorders characterized by defects in heme biosynthesis. The presentation of porphyria is highly variable, and the symptoms are nonspecific, which accounts in part for delays in establishing a diagnosis. In this study, we report the characteristics of 36 Chinese acute porphyria patients. Most of them were female (33/36), and the median age was 25.3 years (range 18-45 years). The most frequent presenting symptom was abdominal pain (32/36). Hyponatremia was the most common electrolyte abnormality (29/36), and the serum sodium concentration was significantly negatively correlated with convulsion ( = 0.00). Genetic testing provided a precise diagnosis of the patients. Genetic analysis of the porphobilinogen deaminase () gene was performed for 10 subjects. Of them, 9 were found to harbor a mutation in the gene, proving a diagnosis of acute intermittent porphyria, and, in 1 case, a novel Cys209Term mutation was found.
卟啉病是一组由8种代谢紊乱组成的疾病，其特征是血红素生物合成存在缺陷。卟啉病的表现高度可变，症状不具有特异性，这在一定程度上导致了诊断的延迟。在本研究中，我们报告了36例中国急性卟啉病患者的特征。其中大多数为女性（33/36），中位年龄为25.3岁（范围18 - 45岁）。最常见的首发症状是腹痛（32/36）。低钠血症是最常见的电解质异常（29/36），血清钠浓度与惊厥显著负相关（ = 0.00）。基因检测为患者提供了精确诊断。对10名受试者进行了尿卟啉原脱氨酶（）基因的遗传分析。其中，9人被发现携带该基因的突变，确诊为急性间歇性卟啉病，1例发现了新的Cys209Term突变。
