Acute intermittent porphyria with peripheral neuropathy: A follow-up study after hematin treatment
- 作者：Hung-Chou Kuo ; Ming-Jen Lee ; Wen-Li Chuang ; Chin-Chang Huang
- 关键词：Peripheral neuropathy ; Acute intermittent porphyria ; Hematin therapy ; Genetic study
- 刊名：Journal of the Neurological Sciences
- 出版年：2007
- 期刊代码：178_0022510x
- 类别：med
- 出版时间：15 September 2007
- 卷：260
- 期：1-2
- 页码：231-235
- 文件大小：378 K
摘要
We report a patient with acute intermittent porphyria who presented with progressive motor neuropathy, particularly in the upper limbs. The electrophysiological studies showed an asymmetric motor neuropathy with a prominent involvement of both the radial and left peroneal nerves. During the 1-year follow-up period, 6 courses of hematin infusion, with 150 mg daily for 4 consecutive days every month, were administrated. The motor neuropathy showed a steady and gradual improvement following the hematin treatment. Molecular analysis of the porphobilinogen deaminase gene revealed a short segment deletion (1008–1019delCAGCCTGGCCAA) resulting in a truncated protein. The findings suggest that early hematin treatment is temporally associated with interval improvement of the patient's porphyric motor neuropathy.