REFERENCES
1. Roscioni SS, Lambers Heerspink HJ, de Zeeuw D. Microalbuminuria: target for renoprotective therapy PRO. Kidney Int 2014;86:40-9.
2. Hemmelgarn BR, Manns BJ, Lloyd A, et al. Alberta Kidney Disease Network. Relation between kidney function, proteinuria, and adverse outcomes. JAMA 2010;303:423-9.
3. Quinlan C. CUBN variants uncouple proteinuria from kidney function. Nat Rev Nephrol 2020;16:135-6.
4. Bedin M, Boyer O, Servais A, et al. Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function. J Clin Invest 2020;130:335-44.
5. Knoers N, Antignac C, Bergmann C, et al. Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice. Nephrol Dial Transplant 2022;37:239-54.
6. Amsellem S, Gburek J, Hamard G, et al. Cubilin is essential for albumin reabsorption in the renal proximal tubule. J Am Soc Nephrol; 2010. 1859-67
7. Gräsbeck R. Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria). Orphanet J Rare Dis 2006;1:17.
8. Aminoff M, Carter JE, Chadwick RB, et al. Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. Nat Genet 1999;21:309-13.
9. Ahluwalia TS, Schulz CA, Waage J, et al. A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria. Diabetologia 2019;62:292-305.
10. Böger CA, Chen MH, Tin A, et al. CKDGen Consortium. CUBN is a gene locus for albuminuria. J Am Soc Nephrol 2011;22:555-70.
11. Haas ME, Aragam KG, Emdin CA, et al. International Consortium for Blood Pressure. Genetic association of albuminuria with cardiometabolic disease and blood pressure. Am J Hum Genet 2018;103:461-73.
12. Zanetti D, Rao A, Gustafsson S, Assimes TL, Montgomery SB, Ingelsson E. Identification of 22 novel loci associated with urinary biomarkers of albumin, sodium, and potassium excretion. Kidney Int 2019;95:1197-208.
13. Teumer A, Tin A, Sorice R, et al. DCCT/EDIC. Genome-wide association studies identify genetic loci associated with albuminuria in diabetes. Diabetes 2016;65:803-17.
14. Domingo-Gallego A, Pybus M, Madariaga L, et al. Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants. Nephrol Dial Transplant 2022;37:1906-15.
15. Cicek N, Alpay H, Guven S, et al. Clinical and genetic characterization of children with cubilin variants. Pediatr Nephrol 2023;38:1381-5.
16. Yang J, Xu Y, Deng L, et al. CUBN gene mutations may cause focal segmental glomerulosclerosis (FSGS) in children. BMC Nephrol 2022;23:15.