伴有神经精神症状的卟啉病(732例资料分析)

Hepatic porphyria accompanied by neural and psychic symptoms

目的 探讨伴有神经、精神症状的肝性卟啉病流行病学、临床表现。方法 通过作者单位收治的 1 0例及光盘检索的 72 2例伴有神经、精神症状的肝性卟啉病 ,就其流行病学和临床表现进行统计分析。结果 全国各省均有报道。急性间歇性卟啉病占 94.44% ;混合型占 5 .56 %。发病年龄 3～ 68岁 ,平均 30 .61± 1 1 .77岁 ,多数在2 0～ 40岁之间 ;男∶女 =1∶1 .72 ;有遗传史的占 6 .42 %。一般临床表现主要有腹痛、便秘、葡萄酒色尿、肝功能改变、黄疸及低钠。神经精神症状主要有不同程度的精神障碍、周围神经改变、抽搐、自主神经症状、类神经衰弱症候群、意识障碍等。本病无特效疗法 ,氯丙嗪可缓解腹痛 ,放血排除铁质及输入正铁血红素可缓解症状。多数间歇期正常 ,死亡率 2 .78% ,死因主要有呼吸衰竭、肾功能衰竭、肝昏迷及癫痫连续状态。结论 国内肝性卟啉病并非十分少见 ;不需要复杂的实验检查 ,根据腹痛伴神经。

Objective To summarize the domestic epidemiology and clinical manifestations of the hepatic porphyria accompanied by neural and psychic symptoms. Methods The clinical data from our hospital and openly published case reports,acquired from domestic medical light disc retrieving,were collected. Focusing on the epidemiology and clinical manifestations,the data were processed by static analysis. Results There were hepatic porphyria reported in almost all provinces except Taiwan and Hainan. Among them,acute intermittent porphyria accounted on 94.44%,and mixed type porphyria,5.56%. The age of incidence ranged from 3 to 68 years old,meanly 30.61±11.77.The number of male cases was 172,while that of female ones,295.The frequent clinical manifestations were abdominalgia,constipation,red wine coloured urine,disorders of hepatic function,jaundice and low sodium level. The neural and psychic symptoms mainly concentrated on psycopathy of different degrees,disorders of the autonomic nervous system,neurasthenia likely syndromes,peripheral neuropathy,epilepsy and disorders of consciousness. There were no specific therapies. Chlorpromazine could relieve abdominalgia,and blood letting to dilute iron or perfusion with Fe 3+ hemachrome were adopted to treat acute intermittent porphyria. Most cases had no symptoms during intermittent period,while few cases died of epilepsy,respiratory failure or renal failure. Conclusion The incidence of hepatic porphyria is not as rare as supposed before. According to the clinical manifestations of abdominalgia,neural and psychic symptoms and characteristic red wine coloured urine,correct diagnosis is not difficult to make,with no special examinations required.