Albuminuria acts as a marker of progressive chronic kidney disease and as an indicator for initiation of hypertension treatment via modulation of the renin-angiotensin-aldosterone system with angiotensin receptor blockers or angiotensin-converting enzyme inhibitors. However, the true significance of albuminuria has yet to be fully defined. Is it merely a marker of underlying pathophysiology, or does it play a causal role in the progression of kidney disease? The answer remains under debate. In this issue of the JCI, Bedin et al. used next-generation sequencing data to identify patients with chronic proteinuria who had biallelic variants in the cubilin gene (CUBN). Through investigation of these pathogenic mutations in CUBN, the authors have further illuminated the clinical implications of albuminuria.
Andrew Beenken, Jonathan M. Barasch, Ali G. Gharavi
Title and authors | Publication | Year |
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Four missense genetic variants in CUBN are associated with higher levels of eGFR in non-diabetes but not in diabetes mellitus or its subtypes: A genetic association study in Europeans
Uglebjerg N, Ahmadizar F, Aly DM, Cañadas-Garre M, Hill C, Naber A, Oddsson A, Singh SS, Smyth L, Trégouët DA, Chaker L, Ghanbari M, Steinthorsdottir V, Ahlqvist E, Hadjadj S, Van Hoek M, Kavousi M, McKnight AJ, Sijbrands EJ, Stefansson K, Simons M, Rossing P, Ahluwalia TS |
Frontiers in Endocrinology | 2023 |
Novel pathogenic variants in CUBN uncouple proteinuria from renal function.
Gan C, Zhou X, Chen D, Chi H, Qiu J, You H, Chen Y, Wang M, Yang H, Jiang W, Li Q |
Journal of Translational Medicine | 2022 |
Predicting Progression of Kidney Injury Based on Elastography Ultrasound and Radiomics Signatures
Zhu M, Tang L, Yang W, Xu Y, Che X, Zhou Y, Shao X, Zhou W, Zhang M, Li G, Zheng M, Wang Q, Li H, Mou S |
Diagnostics | 2022 |