伴有尿调节蛋白基因新型杂合错义突变的常染色体显性遗传性肾小管间质性肾病：病例报告
Autosomal dominant tubulointerstitial kidney disease with a novel heterozygous missense mutation in the uromodulin gene: A case report.
作者信息
Zhang Li-Ling, Lin Jia-Ru, Zhu Ting-Ting, Liu Qi, Zhang Dong-Mei, Gan Lin-Wang, Li Ying, Ou San-Tao
机构信息
Department of Nephrology, the Affiliated Hospital of Southwest Medical University, Luzhou 646000, Sichuan Province, China.
出版信息
World J Clin Cases. 2021 Nov 26;9(33):10249-10256. doi: 10.12998/wjcc.v9.i33.10249.
BACKGROUND
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a progressive chronic disease that is inherited in an autosomal dominant fashion. Symptoms include hyperuricemia, gout, interstitial nephritis, renal cysts, and progressive renal damage that can lead to end-stage renal disease. Mutations in the uromodulin gene () characterize the ADTKD-UMOD clinical subtype of this disease. To date, > 100 mutations have been identified. Early diagnosis of ADTKD-UMOD is important to treat the disease, slow down disease progression, and facilitate the identification of potentially affected family members.
CASE SUMMARY
We report a 40-year-old man harboring a novel heterozygous missense mutation in (c.554G>T; p. Arg185Leu). The patient had hyperuricemia, gout, and chronic kidney disease. The same mutation was detected in his daughter, aunt and cousin.
CONCLUSION
A single nucleotide substitution in exon 3 of was responsible for the heterozygous missense mutation (c.554G>T, p.Arg185Leu).
背景
常染色体显性遗传性肾小管间质性肾病（ADTKD）是一种以常染色体显性方式遗传的进行性慢性疾病。症状包括高尿酸血症、痛风、间质性肾炎、肾囊肿以及可导致终末期肾病的进行性肾损害。尿调节蛋白基因（）突变是该疾病ADTKD - UMOD临床亚型的特征。迄今为止，已鉴定出超过100种突变。ADTKD - UMOD的早期诊断对于治疗该疾病、减缓疾病进展以及便于识别潜在受影响的家庭成员很重要。
病例摘要
我们报告一名40岁男性，其尿调节蛋白基因存在一种新的杂合错义突变（c.554G>T；p.Arg185Leu）。该患者患有高尿酸血症、痛风和慢性肾病。在他的女儿、姑姑和表弟中检测到相同的突变。
结论
尿调节蛋白基因第3外显子中的单核苷酸替换导致了杂合错义突变（c.554G>T，p.Arg185Leu）。
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