急性间歇性卟啉症
基因病名称(英)
Acute intermittent porphyria
别名(英)
PBGD deficiency,Porphobilinogen deaminase deficiency,Porphyria, Swedish type,UPS deficiency,Uroporphyrinogen synthase deficiency
别名
PBGD缺乏症、胆色素原脱氨酶缺乏症、卟啉症、瑞典型、UPS缺乏症、尿卟啉原合酶缺乏症
统计
reviewed:1; annotated:0
交叉引用
176000,C0162565,C0268322,C0311292,C1867969,C2936779,D017118
描述(英)
A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AIP is an autosomal dominant form of hepatic porphyria characterized by attacks of gastrointestinal disturbances, abdominal colic, with neurological dysfunctions, hypertension, tachycardia and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors.
描述
卟啉症的一种。卟啉症是血红素生物合成中的遗传缺陷，导致卟啉或卟啉前体的积累和排泄增加。根据酶缺乏是发生在红细胞还是肝脏中，它们被分为红细胞生成性或肝脏性。AIP是一种常染色体显性遗传形式的肝卟啉症，其特征是胃肠道紊乱、腹部绞痛、神经功能障碍、高血压、心动过速和周围神经病变。大多数发作是由药物、酒精、热量剥夺、感染或内分泌因素引起的。