Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein
Author:
Funder
Ministero della Salute
Fondazione Telethon
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-019-48014-6.pdf
Reference38 articles.
1. Bleyer, A. J., Kidd, K., Zivna, M. & Kmoch, S. Autosomal Dominant Tubulointerstitial Kidney Disease. Adv Chronic Kidney Dis 24, 86–93 (2017).
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. Knaup, K. X. et al. Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition. J Am Soc Nephrol 29, 2298–2309 (2018).
4. Zivna, M. et al. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet 85, 204–213 (2009).
5. Bleyer, A. J. et al. Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. Clin Nephrol 74, 411–422 (2010).
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