Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease.
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease.
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常染色体显性肾小管间隙肾脏疾病的临床和遗传光谱。
DOI：
10.1093/ndt/gfab268
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发表时间：
2023-02-13
期刊：
影响因子：
--
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中科院分区：
文献类型：
--
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常染色体显性遗传性肾小管间质性肾病（ADTKD）是一种以间质纤维化伴肾小管损害、尿液分析阴性和进行性肾病为特征的临床疾病。UMOD和MUC 1突变是ADTKD的最常见原因，但也描述了其他罕见（REN，SEC 61 A1），非典型（DNAJB 11）或异质性（HNF 1B）亚型。意识的提高以及下一代测序方法的实施导致报告病例急剧增加。ADTKD现在被认为是肾脏疾病的最常见单基因形式之一，总体上它可能占慢性肾脏疾病的所有单基因病因的15%。通过国际努力和患者队列的系统分析，近年来积累了对ADTKD临床和遗传谱、基因型-表型相关性以及创新诊断方法的重要见解。此外，密集的研究工作致力于破译和拯救ADTKD中激活的细胞通路。更好地了解这些疾病以及与肾脏疾病更常见原因的可能共性可能与理解和靶向导致纤维化肾脏疾病的机制有关。在这里，我们强调了我们对ADTKD不同亚型的理解的最新进展，重点是分子基础和临床表现。
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a clinical entity defined by interstitial fibrosis with tubular damage, bland urinalysis and progressive kidney disease. Mutations in UMOD and MUC1 are the most common causes of ADTKD but other rarer (REN, SEC61A1), atypical (DNAJB11) or heterogeneous (HNF1B) subtypes have been described. Raised awareness, as well as the implementation of next-generation sequencing approaches, have led to a sharp increase in reported cases. ADTKD is now believed to be one of the most common monogenic forms of kidney disease and overall it probably accounts for ∼5% of all monogenic causes of chronic kidney disease. Through international efforts and systematic analyses of patient cohorts, critical insights into clinical and genetic spectra of ADTKD, genotype–phenotype correlations as well as innovative diagnostic approaches have been amassed during recent years. In addition, intense research efforts are addressed towards deciphering and rescuing the cellular pathways activated in ADTKD. A better understanding of these diseases and of possible commonalities with more common causes of kidney disease may be relevant to understand and target mechanisms leading to fibrotic kidney disease in general. Here we highlight recent advances in our understanding of the different subtypes of ADTKD with an emphasis on the molecular underpinnings and its clinical presentations.
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影响因子：
19.6
作者：
Huynh, Vinh T.;Audrezet, Marie-Pierre;Sayer, John A.;Ong, Albert C.;Lefevre, Siriane;Le Brun, Valoris;Despres, Aurore;Senum, Sarah R.;Chebib, Fouad T.;Barroso-Gil, Miguel;Patel, Chirag;Mallett, Andrew J.;Goel, Himanshu;Mallawaarachchi, Amali C.;Van Eerde, Albertien M.;Ponlot, Eleonore;Kribs, Marc;Le Meur, Yannick;Harris, Peter C.;Cornec-Le Gall, Emilie
通讯作者：
Cornec-Le Gall, Emilie
DOI：
10.2215/cjn.01220211
发表时间：
2011-10-01
影响因子：
9.8
作者：
Bollee, Guillaume;Dahan, Karin;Knebelmann, Bertrand
通讯作者：
Knebelmann, Bertrand
影响因子：
2.3
作者：
Gast, Christine;Marinaki, Anthony;Venkat-Raman, G.
通讯作者：
Venkat-Raman, G.
影响因子：
4
作者：
Hart, TC;Gorry, MC;Bleyer, AJ
通讯作者：
Bleyer, AJ
影响因子：
3
作者：
Cormican, S.;Connaughton, D. M.;Conlon, P. J.
通讯作者：
Conlon, P. J.