一对丙酸血症双胞胎兄妹的诊治体会

Diagnosis and Treatment of Propionic Academia: A Case Report of A Pair of Twin Siblings

丙酸血症是新生儿期常见的有机酸代谢病,临床表现缺乏特异性,且新生儿期起病多呈急性危重症,对临床能否及时救治提出了巨大的挑战。分析天津市儿童医院2019年6月收治的一对丙酸血症双胞胎兄妹的临床资料,总结对该病的诊治体会。详细的病史采集及常规实验室检查可以为疾病的早期诊断提供有力的导向,指导初始急救治疗和进一步完善确认诊断的二线实验室检查。血串联质谱及尿有机酸分析可以发现包括有机酸代谢紊乱在内的多种遗传性代谢病的特异性生化改变,在疾病的早期诊断中发挥重要作用。该类疾病的确诊需要特异性酶活性或致病基因的检测,二代测序技术筛查致病基因不仅有助于疾病的诊断,而且有助于产前筛查,指导优生优育。

Propionic acidemia is a common organic acid-metabolic disease in neonatal period. Because the clinical manifestations are lack of specificity, and the onset in neonatal period is often acute and critical,timely treatment is of a huge challenge. Two cases of propionic acid, twin brother and sister, from our department in June 2019 were reported, including our experience in diagnosis and treatment. The detailed medical history collection and routine laboratory examination can provide a strong guidance for early diagnosis and initial emergency treatment of the disease, and for the second-line laboratory examination to confirm the diagnosis. Blood tandem mass spectrometry and urine organic acid analysis can find the specific biochemical changes of various inherited metabolic diseases, including organic acid metabolism disorder, which play an important role in the early diagnosis. The definite diagnosis needs to test the activity of specific enzyme or the pathogenic genes. The next generation sequencing(NGS) is not only helpful for the definite diagnosis, but also helpful for the prenatal screening and the guidance of eugenics.