Yang Jing, Yang Hang, Chen Qianlong, Hua Baolai, Zhu Tienan, Zhao Yongqiang, Yu Xuezhong, Zhu Huadong, Zhou Zhou
Emergency Department, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 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, China.
Blood Cells Mol Dis. 2017 Mar;63:21-24. doi: 10.1016/j.bcmd.2016.12.005. Epub 2016 Dec 18.
Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme in the of heme biosynthetic pathway. It can affect the autonomic, peripheral, and central nervous system. Posterior reversible encephalopathy syndrome is a clinicoradiological entity characterized by headache, seizures, altered consciousness, and visual disorder associated with potentially reversible neuroradiological abnormalities predominantly in the parieto-occipital lobes. Establishing accurate diagnoses of the patient and asymptomatic family members with AIP involves identifying the PBGD enzyme mutations directly. In this study, we report a 28-year-old woman with acute intermittent porphyria who presented with radiological manifestations suggestive of posterior reversible encephalopathy syndrome, she had a novel PBGD frame shift mutation, base 875 and 876 have been deleted resulting in glutamine to a stop codon (Gln292fs), in a Chinese family.
急性间歇性卟啉病（AIP）是一种常染色体显性疾病，由血红素生物合成途径中第三种酶——胆色素原脱氨酶（PBGD）部分缺乏引起。它可影响自主神经系统、周围神经系统和中枢神经系统。后部可逆性脑病综合征是一种临床放射学病症，其特征为头痛、癫痫发作、意识改变以及视觉障碍，伴有主要位于顶枕叶的潜在可逆性神经放射学异常。准确诊断患有AIP的患者及无症状家庭成员需要直接鉴定PBGD酶突变。在本研究中，我们报告了一名28岁患有急性间歇性卟啉病的女性，她表现出提示后部可逆性脑病综合征的放射学表现，在一个中国家庭中，她存在一种新的PBGD移码突变，第875和876位碱基缺失，导致谷氨酰胺变为终止密码子（Gln292fs）。
