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Autosomal dominant tubulointerstitial kidney disease.
Nature Reviews Disease Primers ( IF 76.9 ) Pub Date : 2019-09-05 , DOI: 10.1038/s41572-019-0109-9 Olivier Devuyst 1, 2 , Eric Olinger 1 , Stefanie Weber 3 , Kai-Uwe Eckardt 4 , Stanislav Kmoch 5 , Luca Rampoldi 6 , Anthony J Bleyer 7
Nature Reviews Disease Primers ( IF 76.9 ) Pub Date : 2019-09-05 , DOI: 10.1038/s41572-019-0109-9 Olivier Devuyst 1, 2 , Eric Olinger 1 , Stefanie Weber 3 , Kai-Uwe Eckardt 4 , Stanislav Kmoch 5 , Luca Rampoldi 6 , Anthony J Bleyer 7
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Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a recently defined entity that includes rare kidney diseases characterized by tubular damage and interstitial fibrosis in the absence of glomerular lesions, with inescapable progression to end-stage renal disease. These diseases have long been neglected and under-recognized, in part due to confusing and inconsistent terminology. The introduction of a gene-based, unifying terminology led to the identification of an increasing number of cases, with recent data suggesting that ADTKD is one of the more common monogenic kidney diseases after autosomal dominant polycystic kidney disease, accounting for ~5% of monogenic disorders causing chronic kidney disease. ADTKD is caused by mutations in at least five different genes, including UMOD, MUC1, REN, HNF1B and, more rarely, SEC61A1. These genes encode various proteins with renal and extra-renal functions. The mundane clinical characteristics and lack of appreciation of family history often result in a failure to diagnose ADTKD. This Primer highlights the different types of ADTKD and discusses the distinct genetic and clinical features as well as the underlying mechanisms.
中文翻译：
常染色体显性遗传性肾小管间质性肾脏疾病。
常染色体显性遗传性肾小管间质性肾脏疾病（ADTKD）是最近定义的实体，包括罕见的肾脏疾病，其特征是在肾小球病变不存在的情况下肾小管损害和间质纤维化，不可避免地会发展为终末期肾脏疾病。这些疾病长期以来一直被忽视和认识不足，部分原因是术语混乱和不一致。基于基因的统一术语的引入导致了越来越多的病例的发现，最新数据表明，ADTKD是继常染色体显性多囊性肾脏病之后最常见的单基因肾病之一，约占单基因肾病的5％。引起慢性肾脏疾病的疾病。ADTKD是由至少五个不同基因的突变引起的，这些基因包括UMOD，MUC1，REN，HNF1B，更罕见的是SEC61A1。这些基因编码具有肾功能和肾外功能的各种蛋白质。世俗的临床特征和缺乏对家族史的认识常常导致无法诊断ADTKD。本入门手册重点介绍了不同类型的ADTKD，并讨论了不同的遗传和临床特征以及潜在的机制。
更新日期：2019-09-06
中文翻译：
常染色体显性遗传性肾小管间质性肾脏疾病。
常染色体显性遗传性肾小管间质性肾脏疾病（ADTKD）是最近定义的实体，包括罕见的肾脏疾病，其特征是在肾小球病变不存在的情况下肾小管损害和间质纤维化，不可避免地会发展为终末期肾脏疾病。这些疾病长期以来一直被忽视和认识不足，部分原因是术语混乱和不一致。基于基因的统一术语的引入导致了越来越多的病例的发现，最新数据表明，ADTKD是继常染色体显性多囊性肾脏病之后最常见的单基因肾病之一，约占单基因肾病的5％。引起慢性肾脏疾病的疾病。ADTKD是由至少五个不同基因的突变引起的，这些基因包括UMOD，MUC1，REN，HNF1B，更罕见的是SEC61A1。这些基因编码具有肾功能和肾外功能的各种蛋白质。世俗的临床特征和缺乏对家族史的认识常常导致无法诊断ADTKD。本入门手册重点介绍了不同类型的ADTKD，并讨论了不同的遗传和临床特征以及潜在的机制。
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