标题：家族性青少年高尿酸血症肾病一例并文献复习

      作者：王倩，田梅    遵义医学院附属医院肾病风湿科，贵州 遵义 563099

      卷次： 2019年30卷2期

      【摘要】 目的 报道1例由尿调制素(UMOD)基因外显子3的杂合突变而导致家族性青少年高尿酸血症肾病(FJHN)的家系，以期引起更多学者对FJHN的关注和重视。方法 回顾性分析1例FJHN先证者的临床特征、实验室检查及该家系其他成员相关的临床资料，并检测先证者及其父亲的UMOD编码基因变异情况。结果 先证者的临床表现为年幼发病、显著性高尿酸血症、关节炎和痛风石，为FJHN典型的临床表现。家系调查显示家系中多人有高尿酸血症临床表现，其中1人死于该病，在先证者家庭中鉴定出在UMOD基因编码的第3外显子上第586碱基出现G/A嵌合子变异(c.586G>A)，使氨基酸序列第196位天冬酰胺取代天冬氨酸(p.D196N)，该突变在我国尚无报道。结论 FJHN可能与UMOD编码基因位第3外显子上第586碱基突变相关，对有显著高尿酸血症、痛风，尤其是高尿酸家族史的患儿，应考虑FJHN可能性，通过UMOD基因的检测，尽早确诊、避免误诊、漏诊。
      【关键词】 家族性青少年高尿酸血症肾病；高尿酸血症；尿调节素；儿童
      【中图分类号】 R725.7 【文献标识码】 A 【文章编号】 1003—6350（2019）02—238—04R

eport of a case of familial juvenile hyperuricemic nephropathy and review of literature.
WANG Qian, TIAN Mei.Department of Nephropathy and Rheumatology, the Affiliated Hospital of Zunyi Medical University, Zunyi 563099, Guizhou,CHINA
【Abstract】 Objective To report a proband case of familial juvenile hyperuricemic nephropathy (FJHN)caused by heterozygous mutation of exon 3 of uromodulin (UMOD) gene and to improve the knowledge of FJHN.Methods The clinical manifestations and laboratory data of the proband and its family were collected and retrospective-ly analyzed. Meanwhile, the UMOD-encoding gene variants of probands and its fathers were also detected. Results Theproband presented with typical clinical features of FJHN, including juvenile onset, obvious hyperuricemia, gout arthritisand gout stone. The pedigree investigation showed that at least three members within three generations of the family suf-fered from hyperuricemia, one of whom died of hyperuricemia. The proband showed heterozygous mutation c.586 G>Ain exon 3 of uromodulin gene causing substitution of cysteine by glycine at position 196 (p.D196N). Conclusion FJHNis an autosomal dominant disorder, which may be associated with mutation of the 586th base on exon 3 of theUMOD-coding gene. If an adolescent has symptoms of remarkable hyperuricemia, gout, and a family history of chronickidney disease, FJHN should be considered and the patiends need to be recognized through UMOD gene mutation test toobtain early correct diagnosis and to avoid misdiagnosis.
      【Key words】 Familial juvenile hyperuricemic nephropathy (FJHN); Hyperuricemia; Uromodulin; Child·短篇论著·doi:10.3969/j.issn.1003-6350.2019.02.030