急性间歇性卟啉病伴婴儿痉挛1例及文献复习

doi:10.6040/j.issn.1671-7554.0.2021.1317

摘要/Abstract

摘要： 目的探讨急性间歇性卟啉病(AIP)合并癫痫发作的临床特征及治疗方法。方法回顾性分析1例AIP合并婴儿痉挛患儿的临床资料并复习相关文献。结果 (1)患儿,女,自7月龄开始抽搐,伴智力运动发育落后,诊断婴儿痉挛,1岁7个月时开始口服抗癫痫药物,治疗效果欠佳,随访至4周岁仍有痉挛发作,家系全外显子组测序发现11号染色体上HMBS基因杂合突变,c.579_583del(p.Q194Hfs*13)为移码突变,来自于父亲。留晨尿放置于太阳下暴晒后变红,诊断AIP。(2)检索到国内外文献59篇,共报道71例卟啉病患者, 其主要的临床表现为腹痛、周围神经病变和精神障碍,部分患者有电解质紊乱(低钠、低钾、低镁等)、贫血及高血压。结论 AIP为一种罕见的常染色体显性遗传性疾病,编码基因外显率低,由于儿童时期临床症状不典型与患儿表达不清等易漏诊、误诊。早期诊断、早期治疗可避免因急性发作而造成不必要的伤亡,改善预后。

关键词: 急性间歇性卟啉病, 婴儿痉挛, 抗惊厥药物, 临床表现

Abstract: Objective To investigate the clinical features and treatment of acute intermittent porphyria(AIP)complicated with infantile spasm. Methods The clinical data of a child with AIP complicated with infantile spasm were retrospectively analyzed and relevant literature was reviewed. Results (1) The girl started to neue convulsions at the age of 7 months, accompanied by retardation of intelligence and motor development. The patient was diagnosed as infantile spasm and began to take antiepileptic drugs at the age of 1 year and 7 months, but with poor effects. At the age of 4, she still had convulsions. A heterozygous mutation was found c. 579_583del(p.Q194Hfs *13), which was from her father. Urine turned red after exposure to sunlight, and acute intermittent porphyria was confirmed. (2) A total of 71 patients with AIP reported in 59 literatures were retrieved. The main clinical manifestations of AIP were abdominal pain, peripheral neuropathy and mental disorder. Some patients had electrolyte disturbances(hyponatremia, hypokalemia, hypomagnesemia), anemia, and hypertension. Conclusion Acute intermittent porphyria is a rare autosomal dominant disease with low penetrance. Due to atypical clinical symptoms and unclear expression in children, AIP is easy to be missed and misdiagnosed. Early diagnosis and treatment can avoid unnecessary casualties caused by acute attack and improve prognosis.

Key words: Acute intermittent porphyria, Infantile spasm, Anticonvulsant drugs, Clinical manifestations

中图分类号:

R725.8

赵海青,李保敏,杨小凡,张童,李军,赵永恒,高靓. 急性间歇性卟啉病伴婴儿痉挛1例及文献复习[J]. 山东大学学报 (医学版), 2022, 60(6): 82-89.

ZHAO Haiqing, LI Baomin, YANG Xiaofan, ZHANG Tong, LI Jun, ZHAO Yongheng, GAO Liang. Acute intermittent porphyria with infantile spasm: a case report and literature review[J]. Journal of Shandong University (Health Sciences), 2022, 60(6): 82-89.

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