Crimlisk H L
Department of Neuropsychiatry, Institute of Neurology, London, UK.
J Neurol Neurosurg Psychiatry. 1997 Apr;62(4):319-28. doi: 10.1136/jnnp.62.4.319.
Three common subtypes of porphyria give rise to neuropsychiatric disorders; acute intermittent porphyria, variegate porphyria, and coproporphyria. The second two also give rise to cutaneous symptoms. Neurological or psychiatric symptoms occur in most acute attacks, and may mimic many other disorders. The diagnosis may be missed because it is not even considered or because of technical problems, such as sample collection and storage, and interpretation of results. A negative screening test does not exclude the diagnosis. Porphyria may be overrepresented in psychiatric populations, but the lack of control groups makes this uncertain. The management of patients with porphyria and psychiatric symptoms causes considerable problems. Three cases are described to illustrate some of these issues. Advances in molecular biology permit identification of patients and latent carriers in the family. Care to avoid relapses and improved treatments have reduced the mortality.
三种常见的卟啉病亚型会引发神经精神障碍,即急性间歇性卟啉病、混合型卟啉病和粪卟啉病。后两种还会引发皮肤症状。大多数急性发作时会出现神经或精神症状,且可能与许多其他疾病相似。诊断可能会被漏诊,原因要么是根本未考虑到该病,要么是存在技术问题,如样本采集与保存以及结果解读等。阴性筛查试验并不能排除诊断。卟啉病在精神科人群中的比例可能过高,但由于缺乏对照组,这一点尚不确定。卟啉病伴精神症状患者的管理存在相当大的问题。描述了三个病例以说明其中一些问题。分子生物学的进展使得能够识别家族中的患者和潜在携带者。注意避免复发以及改进治疗方法已降低了死亡率。