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Abstract：
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 (UMOD) characterize the ADTKD-UMOD clinical subtype of this disease. To date, > 100 UMOD 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.
METHODS: We report a 40-year-old man harboring a novel heterozygous missense mutation in UMOD (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.
CONCLUSIONS: A single nucleotide substitution in exon 3 of UMOD was responsible for the heterozygous missense mutation (c.554G>T, p.Arg185Leu).
METHODS: We report a 40-year-old man harboring a novel heterozygous missense mutation in UMOD (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.
CONCLUSIONS: A single nucleotide substitution in exon 3 of UMOD was responsible for the heterozygous missense mutation (c.554G>T, p.Arg185Leu).
摘要：
背景：常染色体显性肾小管间质性肾病（ADTKD）是一种以常染色体显性遗传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,和可导致终末期肾病的进行性肾损害。尿调节蛋白基因（UMOD）的突变表征了该疾病的ADTKD-UMOD临床亚型。迄今为止,已经鉴定了>100个UMOD突变。ADTKD-UMOD的早期诊断对该病的治疗具有重要意义。减缓疾病进展，并有助于识别潜在受影响的家庭成员。
方法：我们报告了一名40岁的男子，在UMOD中存在一个新的杂合错义突变（c.554G>T;p.Arg185Leu）。病人有高尿酸血症,痛风,和慢性肾病。在他女儿身上也检测到了同样的突变,阿姨和表妹。
结论：UMOD外显子3中的单核苷酸取代是杂合错义突变的原因（c.554G>T，p.Arg185Leu).
方法：我们报告了一名40岁的男子，在UMOD中存在一个新的杂合错义突变（c.554G>T;p.Arg185Leu）。病人有高尿酸血症,痛风,和慢性肾病。在他女儿身上也检测到了同样的突变,阿姨和表妹。
结论：UMOD外显子3中的单核苷酸取代是杂合错义突变的原因（c.554G>T，p.Arg185Leu).
