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.
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。
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引用本文的文献
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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
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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.
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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.
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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.
2
Hereditary coproporphyria.遗传性粪卟啉病
Br Med J. 1955 Jul 9;2(4931):85-8. doi: 10.1136/bmj.2.4931.85.
3
PEDIATRIC ASPECTS OF THE PORPHYRIAS.卟啉病的儿科问题
J Pediatr. 1964 Feb;64:159-73. doi: 10.1016/s0022-3476(64)80260-2.
4
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
J Biol Chem. 1956 Mar;219(1):435-46.
5
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
S Afr Med J. 1967 Nov 4;41(42):1093-6.
6
Acute intermittent porphyria with seizures. Anticonvulsant medication-induced metabolic changes.
Am J Dis Child. 1966 Dec;112(6):561-5. doi: 10.1001/archpedi.1966.02090150105011.
7
Purification and properties of coproporphyrinogenase.粪卟啉原酶的纯化及性质
Biochem J. 1965 Dec;97(3):731-40. doi: 10.1042/bj0970731.
8
Hereditary coproporphyria. A family with unusually few and mild symptoms.
Acta Med Scand. 1969 Jul-Aug;186(1-2):83-5.
9
Coproporphyria.粪卟啉原血症
S Afr Med J. 1969 Feb 8;43(6):138-42.
10
Hereditary coproporphyria. Study of a Swedish family.
Ann Intern Med. 1968 Aug;69(2):221-7. doi: 10.7326/0003-4819-69-2-221.
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