节点文献

高免疫球蛋白D伴周期性发热综合征1例病例报告

Hyper-IgD and periodic fever syndrome : a case report and literature review

  • 推荐 CAJ下载
  • PDF下载
  • 不支持迅雷等下载工具,请取消加速工具后下载。

【作者】 侯佳刘丹如朱晓华王宏胜孙金峤翟晓文王晓川

【Author】 HOU Jia;LIU Dan-ru;ZHU Xiao-hua;WANG Hong-sheng;SUN Jin-qiao;ZHAI Xiao-wen;WANG Xiao-chuan;Department of Clinical Immunology,Children’s Hospital of Fudan University;

【机构】 复旦大学附属儿科医院临床免疫科复旦大学附属儿科医院血液肿瘤科

【摘要】 目的提高对高Ig D伴周期性发热综合征(HIDS)的认识。方法回顾性总结1例儿童HIDS病例的临床特征、实验室检查、血清Ig D、MVK酶和MVK基因检测结果。结果 6岁7个月男孩,2岁起病,呈周期性发作性发热,每24周发热1次,每次持续37 d。发热时伴腹痛,腹泻,关节疼痛,肝脾肿大。发热时未用抗生素经退热对症治疗,体温可恢复正常。发热时WBC、N和CRP升高,热退后可降至正常。免疫接种后有发热和感染史。经全面检查排除感染性、风湿性及血液肿瘤相关疾病。MVK基因分析发现外显子11,c.1129G>A,p.V377I,为杂合型错义突变,外显子9,c.790791ins C,p.Leu264fs X12,为杂合型插入突变(首次报道的新突变)。患儿血清Ig D(1 084μg·m L-1)显著高于正常参照值(<100μg·m L-1)。MVK酶(23 ng·m L-1)低于正常参照值(50300ng·m L-1)。本文病例临床特征典型,HIDS诊断明确。结论婴儿期起病的周期性发作性发热,需警惕HIDS可能,免疫接种后发热是重要的诊断线索,检测血清Ig D和MVK酶水平是重要诊断依据,MVK基因突变可明确诊断。

【Abstract】 Objective To improve the recognition of hyper-Ig D and periodic fever syndrome( HIDS). Methods The clinical features,laboratory examinations,serum Ig D and MVK level,and also MVK gene detection results were retrospectively summarized in HIDS patient. Results A 6. 6 years old boy was admitted to our hospital due to periodic fever from 2 years old. The periodic episodes of fever occurred every 2 to 4 weeks,and lasted for 3 to 7 days everytime,accompanied with abdominal pain,diarrhea,joint pain and with liver and spleen enlargement. The fever could spontaneously resolved without antibiotic treatment. The amount of WBC,neutrophil and CRP increased with the fever,and decrease to the normal level once the fever resolved. The patients had the history of fever episodes and infection symptom after immunization. The infectious disease,rheumatic disease and neoplastic hematologic disorder were ruled out by detailed and systemic examination. The pathogenic compound heterozygous mutations of MVK gene:,p. V377I( c. 1129 G > A) and p. Leu264 fs X12( c. 790791ins C,novel mutation) were found and HIDS was diagnosed. The much higher serum level of Ig D( 1 084 μg·m L-1) and lower MVK level( 23 ng·m L-1) were further detected and HIDS was confirmed. Conclusion The clinical diagnosis of HIDS should be suspected in cases with periodic fever onset from infant period.Immunization induced fever episode was the important clue of the HIDS diagnosis. The levels of serum Ig D and MVK were the diagnostic basis and the MVK gene mutation could clarify the HIDS diagnosis.

  • 【文献出处】 中国循证儿科杂志 ,Chinese Journal of Evidence-Based Pediatrics , 编辑部邮箱 ,2016年05期
  • 【分类号】R725.9
  • 【被引频次】5
  • 【下载频次】207
节点文献中: 

本文链接的文献网络图示:

本文的引文网络