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遗传性粪卟啉病与癫痫

Hereditary coproporphyria and epilepsy.

作者信息

Houston A B, Brodie M J, Moore M R, Thompson G G, Stephenson J B

出版信息

Arch Dis Child. 1977 Aug;52(8):646-50. doi: 10.1136/adc.52.8.646.

DOI:10.1136/adc.52.8.646
PMID:921312
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1544641/
Abstract

A 9-year-old boy with mental deterioration and epilepsy suffered an acute attack of hereditary coproporphyria associated with worsening of seizure control. Leucocyte coproporphyrinogen oxidase activity was undetectable in the patient during this attack, and was reduced in his mother, a latent case. The complex relationship between porphyria, epilepsy, and anticonvulsant drugs is discussed.

摘要

一名患有智力衰退和癫痫的9岁男孩遗传性粪卟啉病急性发作,同时癫痫控制情况恶化。在此次发作期间,患者白细胞中的粪卟啉原氧化酶活性检测不到,而其母亲(一名潜伏病例)的该酶活性降低。本文讨论了卟啉病、癫痫和抗惊厥药物之间的复杂关系。

相似文献

1
Hereditary coproporphyria and epilepsy.遗传性粪卟啉病与癫痫
Arch Dis Child. 1977 Aug;52(8):646-50. doi: 10.1136/adc.52.8.646.
2
[Acute liver porphyria--hereditary coproporphyria diagnosed for the first time in Czechoslovakia].[急性肝卟啉症——遗传性粪卟啉症在捷克斯洛伐克首次确诊]
Vnitr Lek. 1985 Jul;31(7):625-31.
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Relationships between acute hepatic porphyrias due to genetic variability of primary enzyme defects and limiting function of uroporphyrinogen synthase.由于初级酶缺陷的基因变异性导致的急性肝卟啉症与尿卟啉原合酶的限制功能之间的关系。
Int J Biochem. 1978;9(12):911-6. doi: 10.1016/0020-711x(78)90069-1.
4
Coexistent hereditary coproporphyria and congenital erythropoietic porphyria (Günther disease).
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Homozygous case of hereditary coproporphyria.遗传性粪卟啉原血症纯合子病例。
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[Hereditary coproporphyria. 7 cases].[遗传性粪卟啉病。7例]
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Urinary excretion of 17-oxosteroids in hereditary coproporphyria.遗传性粪卟啉病中17-氧类固醇的尿排泄情况。
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[Hereditary coproporphyria].[遗传性粪卟啉病]
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Hereditary coproporphyria. Demonstration of the abnormalities in haem biosynthesis in peripheral blood.遗传性粪卟啉病。外周血中血红素生物合成异常的证明。
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[Hereditary coproporphyria. A familial study].[遗传性粪卟啉病。一项家族性研究]
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引用本文的文献

1
Pathogenesis and treatment of acute intermittent porphyria: discussion paper.急性间歇性卟啉病的发病机制与治疗:讨论文件
J R Soc Med. 1983 May;76(5):386-92. doi: 10.1177/014107688307600512.
2
Hereditary coproporphyria: unusual nervous system involvement in two cases.遗传性粪卟啉病:两例不寻常的神经系统受累情况。
J Neurol. 1984;231(2):99-101. doi: 10.1007/BF00313726.
3
Coexistence of hereditary coproporphyria and epilepsy: coproporphyrinogen oxidase deficiency in liver and kidney.遗传性粪卟啉病与癫痫共存:肝脏和肾脏中粪卟啉原氧化酶缺乏
J Neurol. 1981;226(1):25-33. doi: 10.1007/BF00313315.
4
Management of attacks of acute porphyria.急性卟啉病发作的管理。
Drugs. 1987 Nov;34(5):604-16. doi: 10.2165/00003495-198734050-00007.
5
Aucte intermittent porphyria and epilepsy.急性间歇性卟啉病与癫痫。 (注:原文“Aucte”可能有误,推测为“Acute”,翻译按此修正)
Arch Dis Child. 1979 Aug;54(8):644-5. doi: 10.1136/adc.54.8.644.

本文引用的文献

1
Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。
J Biol Chem. 1951 Nov;193(1):265-75.
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Hereditary coproporphyria.遗传性粪卟啉病
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PEDIATRIC ASPECTS OF THE PORPHYRIAS.卟啉病的儿科问题
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The occurrence and determination of delta-amino-levulinic acid and porphobilinogen in urine.尿中δ-氨基-γ-酮戊酸和胆色素原的出现及测定
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Delta-aminolaevulinic acid synthetase activity in normal and porphyric human livers.正常和卟啉症患者肝脏中的δ-氨基乙酰丙酸合成酶活性
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Acute intermittent porphyria with seizures. Anticonvulsant medication-induced metabolic changes.
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Purification and properties of coproporphyrinogenase.粪卟啉原酶的纯化及性质
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Hereditary coproporphyria. A family with unusually few and mild symptoms.
Acta Med Scand. 1969 Jul-Aug;186(1-2):83-5.
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Coproporphyria.粪卟啉原血症
S Afr Med J. 1969 Feb 8;43(6):138-42.
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Hereditary coproporphyria. Study of a Swedish family.
Ann Intern Med. 1968 Aug;69(2):221-7. doi: 10.7326/0003-4819-69-2-221.