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Abstract：
The clinical characteristics of autosomal dominant tubulointerstitial kidney disease (ADTKD) include bland urinary sediment, slowly progressive chronic kidney disease (CKD) with many patients reaching end stage renal disease (ESRD) between age 20 and 70 years, and autosomal dominant inheritance. Due to advances in genetic diagnosis, ADTKD is becoming increasingly recognized as a cause of CKD. Pathogenic variants in UMOD, MUC1, and REN are the most common causes of ADTKD. ADTKD-UMOD is also associated with hyperuricemia and gout. ADTKD-REN often presents in childhood with mild hypotension, CKD, hyperkalemia, acidosis, and anemia. ADTKD-MUC1 patients present only with CKD. This review describes the pathophysiology, genetics, clinical manifestation, and diagnosis for ADTKD, with an emphasis on genetic testing and genetic counseling suggestions for patients.
摘要：
常染色体显性肾小管间质性肾病(ADTKD)的临床特征包括:慢性肾脏病（CKD），许多患者在20至70岁之间达到终末期肾病（ESRD），和常染色体显性遗传。由于基因诊断的进步，ADTKD越来越被认为是CKD的病因。UMOD中的致病变异，MUC1和REN是ADTKD的最常见原因。ADTKD-UMOD也与高尿酸血症和痛风有关。ADTKD-REN通常在儿童时期出现轻度低血压，CKD,高钾血症,酸中毒,和贫血。ADTKD-MUC1患者仅存在CKD。这篇综述描述了病理生理学，遗传学,临床表现,和ADTKD的诊断，重点为患者提供基因检测和遗传咨询建议。
