【佳学基因靶向药物基因检测】ADTKD- 新发突变女孩的 UMOD：病例报告

品牌肿瘤检测基因688套餐解析

与专家交流基因组织检测 基因组织的标准与实施方案《基因的基因检测与个性化治疗方案》《Front Med (Lausanne)》在 2022 Dec 20;9:1077655.发表了一篇题目为《Case Reports》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Meng-Shi Li, Yang Li, Lei Jiang, Zhuo-Ran Song, Xiao-Juan Yu, Hui Wang, Ya-Li Ren, Su-Xia Wang, Xu-Jie Zhou, Li Yang, Hong Zhang等完成。促进了肿瘤的正确治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

肿瘤基因检测及靶向药物治疗研究关键词：

多动症; UMOD;案例报告;从头突变,遗传性肾病。

肿瘤治疗检测基因临床应用结果

由 UMOD 突变 (ADTKD-UMOD) 引起的常染色体显性肾小管间质性肾病是一种罕见的疾病，与终末期肾病 (ESKD) 年龄的高度变异性相关。常染色体显性遗传是一般规律，但也有新发 UMOD 突变的报道。据报道，ESKD 的中位年龄为 47 岁（18-87 岁），男性进展为 ESKD 的风险要高得多。在这里，我们报告了一名患有不明原因慢性肾病 (CKD)（血清肌酸升高）且没有阳性家族史的 13 岁年轻女孩。非特异性临床和组织学表现以及缺乏其他病因的肾脏疾病证据，高度怀疑 ADTKD。 Trio 全外显子组测序证实，她在 UMOD 基因中携带了新的杂合突变 c.280T > C (p.Cys94Arg)。新突变的功能意义得到了结构生物学方法的支持。在没有靶向治疗的情况下，她被视为 CKD 并定期随访。该案例强调了基于基因的统一术语有助于识别未被充分认识的 CKD 原因的临床重要性，并证明了全外显子组测序在未解决的 CKD 中的价值。 UMOD;案例报告;从头突变；遗传性肾病。

肿瘤发生与革命国际数据库描述：

Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is a rare condition associated with high variability in the age of end-stage kidney disease (ESKD). An autosomal dominant inheritance is the general rule, but de novo UMOD mutations have been reported. It was reported that the median age of ESKD was 47 years (18-87 years) and men were at a much higher risk of progression to ESKD. Here, we reported a 13-year-old young girl with unexplained chronic kidney disease (CKD) (elevated serum creatine) and no positive family history. Non-specific clinical and histological manifestations and the absence of evidence for kidney disease of other etiology raised strong suspicion for ADTKD. Trio whole-exome sequencing confirmed that she carried a de novo heterozygous mutation c.280T > C (p.Cys94Arg) in the UMOD gene. The functional significance of the novel mutation was supported by a structural biology approach. With no targeted therapy, she was treated as CKD and followed up regularly. The case underscores the clinical importance of a gene-based unifying terminology help to identify under-recognized causes of CKD, and it demonstrates the value of whole-exome sequencing in unsolved CKD.Keywords: ADTKD; UMOD; case report; de novo mutation; genetic kidney disease.