山东大学学报 (医学版) ›› 2022, Vol. 60 ›› Issue (6): 82-89.doi: 10.6040/j.issn.1671-7554.0.2021.1317
• • 上一篇
赵海青,李保敏,杨小凡,张童,李军,赵永恒,高靓
ZHAO Haiqing, LI Baomin, YANG Xiaofan, ZHANG Tong, LI Jun, ZHAO Yongheng, GAO Liang
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。
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