临床儿科杂志 ›› 2019, Vol. 37 ›› Issue (3): 196-.doi: 10.3969/j.issn.1000-3606.2019.03.009

• 综合报道 • 上一篇    下一篇

先天性结核病20 例临床分析

吴小英,许红梅,赵瑞秋   

  1. 重庆医科大学附属儿童医院感染科 儿童发育重大疾病国家国际科技合作基地 儿童发育疾病研究 教育部重点实验室 儿科学重庆市重点实验室(重庆 400014)
  • 出版日期:2019-03-15 发布日期:2019-03-25
  • 通讯作者: 赵瑞秋 电子信箱:zrq0907@yeah.net

Clinical analysis of congenital tuberculosis in 20 children

WU Xiaoying, XU Hongmei, ZHAO Ruiqiu   

  1. Infections Department of Children’s Hospital of Chongqing Medical University, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, Chongqing 400014, China
  • Online:2019-03-15 Published:2019-03-25

摘要: 目的 探讨凝血因子Ⅸ(FⅨ )基因突变致血友病乙的分子机制。方法 回顾分析1例确诊血友病乙并经 家系基因检测患儿的临床资料。结果 先证者男, 2岁4个月,反复皮肤瘀斑、鼻衄。查活化部分凝血活酶时间118.3 s, 凝血酶原时间15 s,血小板287×109/L, FⅨ2.3%。明确诊断血友病乙型。收集其家系临床资料,提取家系DNA,运用 PCR扩增及Sanger双脱氧链终止法对其F Ⅸ 基因8个外显子及其侧翼序列进行测序,先证者F Ⅸ 基因突变为c.129delG p.Pro44Glnfs*60,突变位于2号外显子,家系中5例女性为该位点的杂合突变,先证者大姨的胎儿经产前诊断提示未携带 该致病基因。结论 c.129delG p.Pro44Glnfs*60 是该家系F Ⅸ 基因突变类型,基因检测有助于产前诊断。

关键词:  结核; 临床表现; 婴儿

Abstract:  Objective To explore the clinical features of congenital tuberculosis. Method The clinical data of congenital tuberculosis in 20 infants were retrospectively analyzed. Results The mothers of 19 infants (95.0%) were found to have tuberculosis in pregnancy and only five (25%) were diagnosed with tuberculosis pre-partum. The median age at onset was 26 days (1-90 days). Among the 20 infants, cough was a symptom in 15 infants, fever in 14 infants, respiratory distress in 12 infants, hepatosplenomegaly in 9 infants, and abdominal distension in 7 infants. Acid-fast bacillus smear or tuberculosis culture was positive in 10 infants, and T-SPOT was positive in 9 infants. Chest imaging findings were abnormal in all 20 infants, including extensive nodules and patchy shadows in 12 infants, diffuse miliary nodules in 6 infants, and sporadic patchy shadows in right lung in 2 infants. Abdominal ultrasonography and/or CT were performed in 16 infants, and multiple nodules in liver and spleen were found in 7 infants, lymph node enlargement in abdominal cavity in 6 infants, and ascites in 6 infants. The main sites of tuberculosis infection were lung (in all 20 cases), liver (in 7 cases), spleen (in 7 cases), peritoneal cavity (in 8 cases) and brain (in 7 cases). Because 3 infants were in critical condition, their families asked to terminate the diagnosis and treatment, and they did not receive antituberculosis drugs. In the remaining 17 infants who were treated with anti-tuberculosis drugs, 10 infants were discharged after their condition improved, and 7 infants gave up treatment after their condition worsened. Conclusion Congenital tuberculosis is often characterized by systemic disseminated infection. The early diagnosis rate can be improved by combination of maternal tuberculosis history during pregnancy, repeatedly searching for etiological evidence, imaging examination, T-SPOT and other auxiliary examinations. Early and standard anti-tuberculosis treatment is expected to reduce the mortality rate.

Key words: tuberculosis; clinical manifestation; infant