참고문헌
- Gburek J, Konopska B, Golab K. Renal handling of albumin-from early findings to current concepts. Int J Mol Sci 2021;22:5809.
- Gekle M. Renal tubule albumin transport. Annu Rev Physiol 2005;67:573-94. https://doi.org/10.1146/annurev.physiol.67.031103.154845
- Dickson LE, Wagner MC, Sandoval RM, Molitoris BA. The proximal tubule and albuminuria: really! J Am Soc Nephrol 2014;25:443-53. https://doi.org/10.1681/ASN.2013090950
- Figueroa SM, Araos P, Reyes J, Gravez B, Barrera-Chimal J, Amador CA. Oxidized albumin as a mediator of kidney disease. Antioxidants (Basel) 2021;10:404.
- Nielsen R, Christensen EI, Birn H. Megalin and cubilin in proximal tubule protein reabsorption: from experimental models to human disease. Kidney Int 2016;89:58-67. https://doi.org/10.1016/j.kint.2015.11.007
- Willnow TE. Nanotubes, the fast track to treatment of Dent disease? Kidney Int 2017;91:776-8. https://doi.org/10.1016/j.kint.2016.12.030
- Christensen EI, Willnow TE. Essential role of megalin in renal proximal tubule for vitamin homeostasis. J Am Soc Nephrol 1999;10:2224-36. https://doi.org/10.1681/ASN.V10102224
- Khalifa O, Al-Sahlawi Z, Imtiaz F, Ramzan K, Allam R, Al-Mostafa A, et al. Variable expression pattern in Donnai-Barrow syndrome: report of two novel LRP2 mutations and review of the literature. Eur J Med Genet 2015;58:293-9. https://doi.org/10.1016/j.ejmg.2014.12.008
- Simons M. The benefits of tubular proteinuria: an evolutionary perspective. J Am Soc Nephrol 2018;29:710-2. https://doi.org/10.1681/ASN.2017111197
- Storm T, Zeitz C, Cases O, Amsellem S, Verroust PJ, Madsen M, et al. Detailed investigations of proximal tubular function in Imerslund-Grasbeck syndrome. BMC Med Genet 2013;14:111.
- Christensen EI, Devuyst O, Dom G, Nielsen R, Van der Smissen P, Verroust P, et al. Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules. Proc Natl Acad Sci U S A 2003;100:8472-7. https://doi.org/10.1073/pnas.1432873100
- Birn H, Fyfe JC, Jacobsen C, Mounier F, Verroust PJ, Orskov H, et al. Cubilin is an albumin binding protein important for renal tubular albumin reabsorption. J Clin Invest 2000;105:1353-61. https://doi.org/10.1172/JCI8862
- Aminoff M, Carter JE, Chadwick RB, Johnson C, Grasbeck R, Abdelaal MA, et al. Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. Nat Genet 1999;21:309-13. https://doi.org/10.1038/6831
- Grasbeck R. Imerslund-Grasbeck syndrome (selective vitamin B(12) malabsorption with proteinuria). Orphanet J Rare Dis 2006;1:17.
- Storm T, Emma F, Verroust PJ, Hertz JM, Nielsen R, Christensen EI. A patient with cubilin deficiency. N Engl J Med 2011;364:89-91. https://doi.org/10.1056/NEJMc1009804
- Ovunc B, Otto EA, Vega-Warner V, Saisawat P, Ashraf S, Ramaswami G, et al. Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria. J Am Soc Nephrol 2011;22:1815-20. https://doi.org/10.1681/ASN.2011040337
- Boger CA, Chen MH, Tin A, Olden M, Kottgen A, de Boer IH, et al. CUBN is a gene locus for albuminuria. J Am Soc Nephrol 2011;22:555-70. https://doi.org/10.1681/ASN.2010060598
- Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, et al. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol 2015;26:1279-89. https://doi.org/10.1681/ASN.2014050489
- Schapiro D, Daga A, Lawson JA, Majmundar AJ, Lovric S, Tan W, et al. Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children. Nephrol Dial Transplant 2019;34:474-85. https://doi.org/10.1093/ndt/gfy050
- Nagano C, Yamamura T, Horinouchi T, Aoto Y, Ishiko S, Sakakibara N, et al. Comprehensive genetic diagnosis of Japanese patients with severe proteinuria. Sci Rep 2020;10:270.
- Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaude L, Tete MJ, et al. Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function. J Clin Invest 2020;130:335-44. https://doi.org/10.1172/JCI129937
- Domingo-Gallego A, Pybus M, Madariaga L, Pinero-Fernandez JA, Gonzalez-Pastor S, Lopez-Gonzalez M, et al. Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants. Nephrol Dial Transplant 2022;37:1906-15. https://doi.org/10.1093/ndt/gfab285
- Cicek N, Alpay H, Guven S, Alavanda C, Turkkan ON, Pul S, et al. Clinical and genetic characterization of children with cubilin variants. Pediatr Nephrol 2023;38:1381-5. https://doi.org/10.1007/s00467-022-05730-y
- Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature 2016;536:285-91. https://doi.org/10.1038/nature19057
- Yang J, Xu Y, Deng L, Zhou L, Qiu L, Zhang Y, et al. CUBN gene mutations may cause focal segmental glomerulosclerosis (FSGS) in children. BMC Nephrol 2022;23:15.
- Jayasinghe K, White SM, Kerr PG, MacGregor D, Stark Z, Wilkins E, et al. Isolated proteinuria due to CUBN homozygous mutation: challenging the investigative paradigm. BMC Nephrol 2019;20:330.
- Gan C, Zhou X, Chen D, Chi H, Qiu J, You H, et al. Novel pathogenic variants in CUBN uncouple proteinuria from renal function. J Transl Med 2022;20:480.
- Prabakaran T, Christensen EI, Nielsen R, Verroust PJ. Cubilin is expressed in rat and human glomerular podocytes. Nephrol Dial Transplant 2012;27:3156-9. https://doi.org/10.1093/ndt/gfr794
- Gianesello L, Priante G, Ceol M, Radu CM, Saleem MA, Simioni P, et al. Albumin uptake in human podocytes: a possible role for the cubilin-amnionless (CUBAM) complex. Sci Rep 2017;7:13705.
- Christensen EI, Birn H, Storm T, Weyer K, Nielsen R. Endocytic receptors in the renal proximal tubule. Physiology (Bethesda) 2012;27:223-36. https://doi.org/10.1152/physiol.00022.2012
- Santer R, Calado J. Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target. Clin J Am Soc Nephrol 2010;5:133-41. https://doi.org/10.2215/CJN.04010609