【佳學(xué)基因靶向藥物基因檢測】ADTKD- 新發(fā)突變女孩的 UMOD：病例報(bào)告

品牌腫瘤檢測基因688套餐解析

與專家交流基因組織檢測 基因組織的標(biāo)準(zhǔn)與實(shí)施方案《基因的基因檢測與個性化治療方案》《Front Med (Lausanne)》在?2022 Dec 20;9:1077655.發(fā)表了一篇題目為《Case Reports》腫瘤靶向藥物治療基因檢測臨床研究文章。該研究由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。促進(jìn)了腫瘤的正確治療與個性化用藥的發(fā)展，進(jìn)一步強(qiáng)調(diào)了基因信息檢測與分析的重要性。

腫瘤基因檢測及靶向藥物治療研究關(guān)鍵詞：

多動癥; UMOD;案例報(bào)告;從頭突變,遺傳性腎病。

腫瘤治療檢測基因臨床應(yīng)用結(jié)果

由 UMOD 突變 (ADTKD-UMOD) 引起的常染色體顯性腎小管間質(zhì)性腎病是一種罕見的疾病，與終末期腎病 (ESKD) 年齡的高度變異性相關(guān)。常染色體顯性遺傳是一般規(guī)律，但也有新發(fā) UMOD 突變的報(bào)道。據(jù)報(bào)道，ESKD 的中位年齡為 47 歲（18-87 歲），男性進(jìn)展為 ESKD 的風(fēng)險(xiǎn)要高得多。在這里，我們報(bào)告了一名患有不明原因慢性腎病 (CKD)（血清肌酸升高）且沒有陽性家族史的 13 歲年輕女孩。非特異性臨床和組織學(xué)表現(xiàn)以及缺乏其他病因的腎臟疾病證據(jù)，高度懷疑 ADTKD。 Trio 全外顯子組測序證實(shí)，她在 UMOD 基因中攜帶了新的雜合突變 c.280T > C (p.Cys94Arg)。新突變的功能意義得到了結(jié)構(gòu)生物學(xué)方法的支持。在沒有靶向治療的情況下，她被視為 CKD 并定期隨訪。該案例強(qiáng)調(diào)了基于基因的統(tǒng)一術(shù)語有助于識別未被充分認(rèn)識的 CKD 原因的臨床重要性，并證明了全外顯子組測序在未解決的 CKD 中的價(jià)值。 UMOD;案例報(bào)告;從頭突變；遺傳性腎病。

腫瘤發(fā)生與革命國際數(shù)據(jù)庫描述：

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.