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高脯氨酸血症临床特征分析

  • WANG Yanyun ,
  • SUN Yun ,
  • CHENG Wei ,
  • et al
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  • 南京市妇幼保健院 南京医科大学附属妇产医院 (江苏南京 210004)

网络出版日期: 2020-02-03

Clinical characteristics of hyperprolinemia

  • 王彦云,孙云,程威,等
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  • Center for Genetic Medicine, Nanjing Maternity and Child Health Care Hospital, Women’s Hospital of Nanjing Medical University, Nanjing 210004, Jiangsu China

Online published: 2020-02-03

摘要

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。

本文引用格式

WANG Yanyun , SUN Yun , CHENG Wei , et al . 高脯氨酸血症临床特征分析[J]. 临床儿科杂志, 2020 , 38(1) : 40 . DOI: 10.3969/j.issn.1000-3606.2020.01.010

Abstract

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.
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