Child Kidney Dis.  2024 Oct;28(3):87-89. 10.3339/ckd.24.019.

CUBN mutation, a genetic cause of persistent proteinuria in children

• Suh JS

• KMID: 2560475
• DOI: http://doi.org/10.3339/ckd.24.019

Reference

References

1. 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.

2. 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.

3. Rovin BH, Adler SG, Barratt J, Bridoux F, Burdge KA, Chan TM, et al. Executive summary of the KDIGO 2021 guideline for the management of glomerular diseases. Kidney Int. 2021; 100:753–79.

4. Arora V, Anand K, Chander Verma I. Genetic testing in pediatric kidney disease. Indian J Pediatr. 2020; 87:706–15.

5. Lee HK. CUBN mutation: a benign genetic cause of proteinuria? Child Kidney Dis. 2023; 27:19–25.

6. 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.

7. 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.

8. 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.

9. Brown KD, Campbell C, Roberts GV. Precision medicine in kidney disease: the patient's view. Nat Rev Nephrol. 2020; 16:625–7.