Molecular Genetics of Renal Disorders, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Kidney Int. 2020 Dec;98(6):1397-1400. doi: 10.1016/j.kint.2020.08.013.
Heterozygous mutations in REN cause autosomal dominant tubulointerstitial kidney disease (ADTKD), an increasingly recognized entity characterized by interstitial fibrosis and tubular damage. In contrast to more common forms of ADTKD, the rarity of ADTKD-REN has precluded a thorough disease characterization. Živná and colleagues take advantage of an international patient cohort to expand the genetic and clinical spectra of ADTKD-REN and to establish genotype-phenotype correlations with important implications for patient care.
REN 中的杂合性突变导致常染色体显性遗传性肾小管间质性肾病 (ADTKD)，这是一种日益被认识的实体，其特征为间质纤维化和肾小管损伤。与更常见的 ADTKD 形式不同，ADTKD-REN 的罕见性使得对该疾病进行全面的特征描述变得不可能。Živná 及其同事利用一个国际患者队列，扩展了 ADTKD-REN 的遗传和临床谱，并建立了与基因型-表型相关性，这对患者护理具有重要意义。
