https://scholars.lib.ntu.edu.tw/handle/123456789/519578
標題: | Acute intermittent porphyria with peripheral neuropathy: A follow-up study after hematin treatment | 作者: | Kuo H.-C. MING-JEN LEE Chuang W.-L. Huang C.-C. |
公開日期: | 2007 | 卷: | 260 | 期: | 43832 | 起(迄)頁: | 231-235 | 來源出版物: | Journal of the Neurological Sciences | 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. ? 2007 Elsevier B.V. All rights reserved. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-34547689022&doi=10.1016%2fj.jns.2007.03.018&partnerID=40&md5=79715d91a9587e63f7ed5eac9670d8ef https://scholars.lib.ntu.edu.tw/handle/123456789/519578 |
ISSN: | 0022-510X | DOI: | 10.1016/j.jns.2007.03.018 | SDG/關鍵字: | hematin; porphobilinogen; porphobilinogen deaminase; abdominal distension; acute intermittent porphyria; adult; arm weakness; article; case report; clinical feature; constipation; drug effect; drug efficacy; drug infusion; dysphonia; electromyogram; female; follow up; gene deletion; human; hyponatremia; hypothermia; motor neuropathy; multiple cycle treatment; muscle weakness; nucleotide sequence; outcome assessment; peripheral neuropathy; peroneus nerve; priority journal; radial nerve; symptom; Adult; Aminolevulinic Acid; DNA Mutational Analysis; Female; Follow-Up Studies; Genetic Markers; Genetic Predisposition to Disease; Hemin; Humans; Hydroxymethylbilane Synthase; Motor Neuron Disease; Mutation; Pedigree; Peripheral Nervous System Diseases; Polyneuropathies; Porphobilinogen; Porphyria, Acute Intermittent; Treatment Outcome |
顯示於: | 醫學系 |
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