UMOD gene mutations in Chinese patients with autosomal dominant tubulointerstitial kidney disease: a pediatric case report and literature review
UMOD gene mutations in Chinese patients with autosomal dominant tubulointerstitial kidney disease: a pediatric case report and literature review
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中国常染色体显性肾小管间质性肾病患者UMOD基因突变：一例儿科病例报告及文献复习
DOI：
10.1186/s12887-019-1522-7
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发表时间：
2019-05
期刊：
影响因子：
2.4
通讯作者：
Zhou Jianhua
中科院分区：
文献类型：
--
作者：
Yang Jing;Zhang Yu;Zhou Jianhua
背景：由UMOD基因突变（ADTKD-UMOD）引起的常染色体显性小管间质肾病（ADTKD）在儿童中罕见，以高尿酸血症、痛风和进行性慢性肾脏疾病为特征。它通常在50岁时导致终末期肾衰竭。在这里，我们报告了一名3岁的中国男孩，他是由一种新的UMOD基因突变引起的ADTKD家族。病例介绍：一名三岁男童因持续血尿入院。尿分析显示BLD 2+，无蛋白尿。血清尿酸、肌酐、电解质均正常。超声检查未发现肾囊肿及结石。行肾活检，35个肾小球中有4个出现局灶性和节段性肾小球硬化。他的父亲在29岁时被发现患有终末期肾病（ESRD），肾脏超声显示双肾有几个囊肿。一种新的杂合突变(c.1648G . > A,p。通过全外显子组测序，在UMOD基因8外显子中鉴定出V550I)。SCBC基因组浏览器比对显示，V550在不同物种间尿调蛋白高度保守。软件预测这种突变可能是有害的。通过文献查阅，在14个中国家庭中有12个UMOD基因突变，其中只有1例儿童病例（16岁女孩）。结论：一种新的杂合突变(c.1648G > A,p。在1例中国ADTKD-UMOD患儿中发现了UMOD基因外显子8中的V550I，扩展了我们对儿童ADTKD-UMOD基因突变谱和表型的认识。
Background:Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by UMOD gene mutation (ADTKD-UMOD) is rare in children, characterized by hyperuricemia, gout, and progressive chronic kidney disease. It usually leads to end-stage renal failure at fiftieth decades. Here, we report a 3-year-old Chinese boy in an ADTKD family caused by a novel UMOD gene mutation.Case presentation:A 3-year-old boy was admitted to our hospital because of persistent hematuria. Urinalysis showed BLD 2+ without proteinuria. The serum levels of uric acid, creatinine and electrolytes were normal. No renal cyst or calculus was found by ultrasonography. Renal biopsy was performed and focal and segmental glomerulosclerosis was found in 4 glomeruli among 35 glomeruli examined. His father was found with end-stage renal disease (ESRD) at the age of 29, and renal ultrasound showed several cysts in both kidneys. A novel heterozygous mutation (c.1648G > A,p.V550I) in exon 8 of UMOD gene was identified by whole exome sequencing in the family. SCBC Genome Browser alignment showed that V550 were highly conserved in uromodulin among different species. Software predicted that the mutation is suspected to be harmful. By literature review, there are 12 mutations of UMOD gene in 14 Chinese families including only one pediatric case(a 16-year-old girl).Conclusions:A novel heterozygous mutation (c.1648G > A,p.V550I) in exon 8 of UMOD gene was found in in a Chinese child case with ADTKD-UMOD, which extends our understanding of UMOD gene mutation spectrum and phenotype of ADTKD-UMOD in children.
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影响因子：
4
作者：
Hart, TC;Gorry, MC;Bleyer, AJ
通讯作者：
Bleyer, AJ
影响因子：
21.3
作者：
Jovine, L;Qi, HY;Wassarman, PM
通讯作者：
Wassarman, PM
影响因子：
4.6
作者：
Trudu M;Schaeffer C;Riba M;Ikehata M;Brambilla P;Messa P;Martinelli-Boneschi F;Rastaldi MP;Rampoldi L
通讯作者：
Rampoldi L
影响因子：
3
作者：
M. T. Wolf;G. Ariceta
通讯作者：
M. T. Wolf;G. Ariceta
影响因子：
4.8
作者：
Renigunta, Aparna;Renigunta, Vijay;Waldegger, Siegfried
通讯作者：
Waldegger, Siegfried