目的 探讨高脯氨酸血症的临床特征。方法 回顾分析2013年11月-2019年4月疑似高脯氨酸血症患儿的 临床资料。结果 共有15例患儿至少2次血脯氨酸>400 μmol/L,男性5例、女性10例。其中3例经基因检测确诊为高脯 氨酸血症, 2例为新生儿, 1例为11岁女性患儿。12例为疑似高脯氨酸血症, 6例在出生后3~6个月随访中脯氨酸逐步降至 正常范围,另外6例随访中断,并拒绝行基因检测。结论 初筛时脯氨酸≥1 000 μmol/L者,以及400~1 000 μmol/L且 至6月龄时脯氨酸仍持续偏高者,应尽快完善基因检测,并加强随访。
Objective To explore the clinical characteristics of hyperprolinemia. Method The clinical data of children suspected of hyperprolinemia from November 2013 to April 2019 were analyzed retrospectively. Results A total of 15 children (5 boys and 10 girls) were found at least twice to have blood proline levels >400 μmol/L. In 3 patients diagnosed with hyperprolinemia by genetic testing, two were neonates and one was an 11-year-old female. Twelve cases were suspected of hyperprolinemia. In 6 cases, proline gradually decreased to the normal range during follow-up at 3-6 months after birth, and in another 6 cases, follow-up was interrupted and genetic testing was refused. Conclusions For those whose proline are ≥1000 mol/L or at 400~1000 mol/L at the initial screening but still remains high at the age of 6 months, genetic testing should be improved as soon as possible, and follow-up should be strengthened.