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目的通过对3例急性间歇型卟啉病(AIP)的临床分析,以提高对AIP的认识。方法临床拟诊AIP的3例患儿采用胆色素原(PBG)定性试验确诊,对患儿的临床表现归纳总结。对AIP的分子学研究进展、临床表现、诊断、治疗及预后进行阐述。结果 3例中女童2例,男童1例,均为青少年期起病,病程9个月～2a,表现为间歇发作性腹痛和(或)呕吐,病情有逐渐加重趋势。2例女性患儿临床发作与月经周期有明确关系,属于AIP的典型表现,确诊AIP后,3例患儿于发作期均进行高糖治疗,2～5d症状得到缓解。3例患儿仍间歇出现临床发作。2例患儿于发作间歇期PBG定性试验呈阴性反应。结论儿童期AIP临床表现缺乏特异性,PBG定性、定量试验是诊断AIP急性发作期最好的生化检测手段。
Objective To improve the understanding of AIP through the clinical analysis of 3 cases of acute intermittent porphyria (AIP). Methods Three patients diagnosed AIP clinically diagnosed by qualitative test of porphobilinoma (PBG), the clinical manifestations of children summarized. The progress of molecular studies of AIP, clinical manifestations, diagnosis, treatment and prognosis are described. Results The results showed that there were 2 girls and 1 boy in 3 cases, both of them had onset of adolescence and had a duration of 9 months to 2a, showing intermittent onset of abdominal pain and / or vomiting. The disease tended to aggravate gradually. Two cases of female children with clinical seizure and menstrual cycle have a clear relationship, is a typical manifestation of AIP, diagnosed with AIP, 3 cases of children in the attack period were high glucose treatment, 2 ~ 5d symptoms were eased. Three patients still intermittent clinical seizures. Two cases of children in the intermittent episodes of PBG qualitative test was negative. Conclusion The clinical manifestations of childhood AIP lacks specificity. PBG qualitative and quantitative test is the best biochemical detection method for diagnosing acute AIP.