儿童原发性痛风可能致病基因分析

临床儿科杂志 ›› 2014, Vol. 32 ›› Issue (6): 574-578.

儿童原发性痛风可能致病基因分析

刘淑平¹, 姚勇¹, 叶锦棠¹, 王素霞¹, 丁洁¹, 李倩², 张琰琴¹, 王芳¹

1. 北京大学第一医院（北京　100034）；2.山东大学附属省立医院小儿肾脏风湿免疫科
（山东济南 250021）

收稿日期:2014-03-12 出版日期:2014-06-15 发布日期:2014-06-15

Analysis of causative gene mutations in one child with primary gout　

LIU Shuping¹, YAO Yong¹, YE Jintang¹, WANG Su-xia¹, DING Jie¹, LI Qian², ZHANG Yanqin¹, WANG Fang¹ #br#

(1. Peking University First Hospital, Beijing 100034, China; 2. Department of Pediatric Nephrology and Rheumatology, Provincial Hospital Affiliated to Shandong University, Jinan 250021, Shandong, China)

Received:2014-03-12 Published:2014-06-15 Online:2014-06-15

摘要/Abstract

摘要：

目的　提高对儿童原发性痛风的认识。方法　回顾性分析1例儿童原发性痛风患儿的临床资料，并应用聚合酶链反应和直接测序方法分析其UMOD基因、REN基因和HNF-1β基因。结果　患儿为12岁女童，左足拇趾肿痛伴血尿酸、血肌酐增高1月余；多次监测血尿酸/血肌酐>2.5；尿尿酸分泌率为3.4%~6.6%；X线示双足第一趾近节趾骨骨质破坏；肾活检病理诊断为缺血性肾损伤伴慢性肾小管间质肾病。父母血尿酸正常，且家族成员中无痛风病史者。UMOD基因检测到2个单核苷酸多态性（c.264C>T杂合及c.866-71G>A杂合），REN基因检测到1个单核苷酸多态性（c.373+44C>G杂合），HNF-1β基因检测到2个单核苷酸多态性（c.545-50_--49ins TCTG杂合及c.1654-22T>C纯合）。未检测到上述3个基因的致病性突变。结论　本病例高度怀疑为家族性青年高尿酸性肾病导致的儿童原发性痛风。

Abstract: 　Objective　To improve the knowledge of primary gout in children. Methods Clinical data of a 12-year-old girl with primary gout was collected. Analysis of UMOD gene, REN gene and HNF-1β gene was performed using PCR and direct sequencing. Results The girl was admitted for 1-month history of left hallux pain accompanied with elevations of serum uric acid concentration and serum creatinine concentration. Several examinations showed serum uric acid/creatinine ratio was greater than 2.5. The fractional excretion of uric acid was 3.4%-6.6%. The X-ray showed that the proximal phalanxes of halluces were erosion. The diagnosis of renal biopsy was ischemic renal injury and chronic tubulointerstitial nephropathy. Blood uric acid concentrations of parents were normal, and the family history of gout was negative. Two single nucleotide polymorphisms (c.264C>T heterozygous and c.866-71 G>A heterozygous) in UMOD gene, 1 single nucleotide polymorphism (c.373+44C>G heterozygous) in REN gene, and 2 single nucleotide polymorphisms (c.100-50-49ins TCTG heterozygous and c.781-22T>C homozygous) in HNF-1β gene were detected. No pathological mutation was detected in these 3 genes. Conclusions This child is highly suspected to have primary gout caused by familial juvenile hyperuricemic nephropathy.

刘淑平, 姚勇, 叶锦棠, 王素霞, 丁洁, 李倩, 张琰琴, 王芳. 儿童原发性痛风可能致病基因分析[J]. 临床儿科杂志, 2014, 32(6): 574-578.

LIU Shuping,YAO Yong,YE Jintang,WANG Su-xia,DING Jie,LI Qian,ZHANG Yanqin,WANG Fang
. Analysis of causative gene mutations in one child with primary gout　[J]. , 2014, 32(6): 574-578.

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