Autosomal dominant tubulointerstitial kidney disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://www.nature.com/articles/s41572-019-0109-9.pdf
Reference156 articles.
1. Eckardt, K. U. et al. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management – KDIGO consensus report. Kidney Int. 88, 676–683 (2015). This consensus document established the gene-based, unifying terminology for ADTKD as well as the clinical criteria and principles of management.
2. Gast, C. et al. Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease. BMC Nephrol. 19, 301 (2018).
3. Groopman, E. E. et al. Diagnostic utility of exome sequencing for kidney disease. N. Engl. J. Med. 380, 142–151 (2019). This first large-scale study of exome sequencing in >3,000 patients with CKD yielded a genetic diagnosis in 9.3%, with mutations in UMOD being among the most frequently detected after PKD1 and PKD2 , which are involved in ADPKD.
4. Hart, T. C. et al. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J. Med. Genet. 39, 882–892 (2002). This study provided the first direct evidence that UMOD mutations cause ADTKD.
5. Dahan, K. et al. A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. J. Am. Soc. Nephrol. 14, 2883–2893 (2003).
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