Analysis of causative gene mutations in one child with primary gout
10.3969/j.issn.1000-3606.2014.06.019
- VernacularTitle:儿童原发性痛风可能致病基因分析
- Author:
Shuping LIU
;
Yong YAO
;
Jintang YE
;
Suxia WANG
;
Jie DING
;
Qian LI
;
Yanqin ZHANG
;
Fang WANG
- Publication Type:Journal Article
- Keywords:
hyperuricemia;
gout;
child
- From:
Journal of Clinical Pediatrics
2014;(6):574-578
- CountryChina
- Language:Chinese
-
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-1βgene was performed using PCR and di-rect 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-1βgene 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.
