Reference List

1. Chronic kidney disease, What is chronic kidney disease? Australian Institute of Health and Welfare https://www.aihw.gov.au/reports/chronic-kidney-disease/chronic-kidney-

disease/contents/hospital-care-for-chronic-kidney-disease.

2. Mallett, A. et al. The prevalence and epidemiology of genetic renal disease amongst adults with chronic kidney disease in Australia. Orphanet J. Rare Dis. 9, 98 (2014).

3. Corredor, Z. et al. Genetic Variants Associated with Chronic Kidney Disease in a Spanish Population. Sci. Rep. 10, 144 (2020).

4. Warady, B. A. & Chadha, V. Chronic kidney disease in children: the global perspective. Pediatr. Nephrol. 22, 1999–2009 (2007).

5. White, A., Wong, W., Sureshkumur, P. & Singh, G. The burden of kidney disease in indigenous children of Australia and New Zealand, epidemiology, antecedent factors and progression to chronic kidney disease. J. Paediatr. Child Health 46, 504–509 (2010).

6. Jayasinghe, K. et al. Renal genetics in Australia: Kidney medicine in the genomic age. Nephrology 24, 279–286 (2019).

7. Hildebrandt, F. Genetic kidney diseases. The Lancet 375, 1287–1295 (2010).

8. Jayasinghe, K. et al. Clinical impact of genomic testing in patients with suspected monogenic kidney disease. Genet. Med. 23, 183–191 (2021).

9. Jayasinghe, K. et al. Attitudes and practices of Australian nephrologists towards implementation of clinical genomics. Kidney Int. Rep. (2020) doi:https://doi.org/10.1016/j.ekir.2020.10.030.

10. Quinlan, C. Chapter 18: New Horizons in Kidney Genetics. in Clinical Paediatric Nephrology 4 (Oxford University Press, 2022).

11. Eckardt, K.-U. et al. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report. Kidney Int. 88, 676–683 (2015).

12. Mallawaarachchi, A. C. et al. Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease. Eur. J. Hum. Genet. 24, 1584–1590 (2016).

13. Item 73298 | Medicare Benefits Schedule. http://www9.health.gov.au/mbs/fullDisplay.cfm?type=item&q=73298&qt=ItemID.

14. Dudley, J. et al. Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD). BMC Nephrol. 20, 148 (2019).

15. Kashtan, C. <p>Multidisciplinary Management of Alport Syndrome: Current Perspectives</p>. J. Multidiscip. Healthc. 14, 1169–1180 (2021).

6. Otsuka Pharmaceutical Development & Commercialization, Inc. A Phase 3b Multicenter Open-label Trial of the Safety, Tolerability, and Efficacy of Tolvaptan in Infants and Children 28 Days to Less Than 18 Years of Age With Autosomal Recessive Polycystic Kidney Disease (ARPKD). https://clinicaltrials.gov/ct2/show/NCT04782258 (2021).

17. Vertex Pharmaceuticals Incorporated. A Phase 2a, Open-label, Single-arm, 2-Part Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of VX-147 in Adults With APOL1-mediated Focal Segmental Glomerulosclerosis. https://clinicaltrials.gov/ct2/show/NCT04340362 (2021).

18. Vears, D. F., Ayres, S., Boyle, J., Mansour, J. & Newson, A. J. Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children. Twin Res. Hum. Genet. 23, 184–189 (2020).

9. Cramer, M. T. & Guay-Woodford, L. M. Cystic Kidney Disease: A Primer. Adv. Chronic Kidney Dis. 22, 297–305 (2015).

20. Park, H. C. et al. Genetic identification of inherited cystic kidney diseases for implementing precision medicine: a study protocol for a 3-year prospective multicenter cohort study. BMC Nephrol. 22, 2 (2021).

21. Scolari, F. & Ghiggeri, G. M. Nephronophthisis-medullary cystic kidney disease: from bedside to bench and back again. Saudi J. Kidney Dis. Transplant. Off. Publ. Saudi Cent. Organ Transplant. Saudi Arab. 14, 316–327 (2003).

22. PKD1 gene: MedlinePlus Genetics. https://medlineplus.gov/genetics/gene/pkd1/.

23. PKD2 gene: MedlinePlus Genetics. https://medlineplus.gov/genetics/gene/pkd2/.

24. Hateboer, N. et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet Lond. Engl. 353, 103–107 (1999).

25. Halvorson, C. R., Bremmer, M. S. & Jacobs, S. C. Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment. Int. J. Nephrol. Renov. Dis. 3, 69–83 (2010).

26. ADPKD – PKD Australia. https://pkdaustralia.org/adpkd/.

27. Rangan, G. K. et al. KHA-CARI guideline recommendations for the diagnosis and management of autosomal dominant polycystic kidney disease. Nephrology 21, 705–716 (2016).

28. Autosomal dominant tubulointerstitial kidney disease: MedlinePlus Medical Encyclopedia. https://medlineplus.gov/ency/article/000465.htm.

29. Autosomal Dominant Tubulo-Interstitial Kidney Disease. NORD (National Organization for Rare Disorders) https://rarediseases.org/rare-diseases/autosomal-dominant-interstitial-kidney-disease/.

30. Devuyst, O. et al. Autosomal dominant tubulointerstitial kidney disease. Nat. Rev. Dis. Primer 5, 1–20 (2019).

31. Australia and New Zealand & Dialysis and Transplant Registry. ANZDATA Registry. 41st Report, Chapter 1: Incidence of End Stage Kidney Disease. (2018).

32. PKHD1 gene: MedlinePlus Genetics. https://medlineplus.gov/genetics/gene/pkhd1/.

33. ARPKD – PKD Australia. https://pkdaustralia.org/arpkd/.

34. Adeva, M. et al. Clinical and Molecular Characterization Defines a Broadened Spectrum of Autosomal Recessive Polycystic Kidney Disease (ARPKD). Medicine (Baltimore) 85, 1–21 (2006).

35. Kidney Health Australia. Fact sheet: Polycystic Kidney Disease. (2019).

36. König, J. et al. Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. Clin. J. Am. Soc. Nephrol. 12, 1974–1983 (2017).

37. Nephronophthisis and Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) - Genitourinary Disorders. MSD Manual Professional Edition https://www.msdmanuals.com/en-au/professional/genitourinary-disorders/cystic-kidney-disease/nephronophthisis-and-autosomal-dominant-tubulointerstitial-kidney-disease-adtkd.

38. Luo, F. & Tao, Y.-H. Nephronophthisis: A review of genotype–phenotype correlation. Nephrology 23, 904–911 (2018).

39. Chiang, C.-K. & Inagi, R. Glomerular diseases: genetic causes and future therapeutics. Nat. Rev. Nephrol. 6, 539–554 (2010).

40. Chanchlani, R. & Parekh, R. S. Ethnic Differences in Childhood Nephrotic Syndrome. Front. Pediatr. 4, (2016).

41. Hashmi, M. S. & Pandey, J. Nephritic Syndrome. in StatPearls (StatPearls Publishing, 2022).

42. Nourbakhsh, N. & Mak, R. H. Steroid-resistant nephrotic syndrome: past and current perspectives. Pediatr. Health Med. Ther. 8, 29–37 (2017).

43. Tullus, K., Webb, H. & Bagga, A. Management of steroid-resistant nephrotic syndrome in children and adolescents. Lancet Child Adolesc. Health 2, 880–890 (2018).

44. Lee, J. M., Kronbichler, A., Shin, J. I. & Oh, J. Current understandings in treating children with steroid-resistant nephrotic syndrome. Pediatr. Nephrol. 36, 747–761 (2021).

45. Kashtan, C. E. & Gubler, M.-C. Inherited glomerular diseases. in Pediatric Nephrology (2009).

46. Savige, J. et al. Expert Guidelines for the Management of Alport Syndrome and Thin Basement Membrane Nephropathy. J. Am. Soc. Nephrol. 24, 364–375 (2013).

47. Kashtan, C. E. Alport Syndrome. in GeneReviews® (eds. Adam, M. P. et al.) (University of Washington, Seattle, 2019).

48. Alport Syndrome. National Kidney Foundation https://www.kidney.org/atoz/content/alport(2015).

49. Zhang, X. et al. X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males. Orphanet J. Rare Dis. 13, 229 (2018).

50. Savige, J. et al. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria. Eur. J. Hum. Genet. 29, 1186–1197 (2021).

51. Savige, J. et al. Alport Syndrome in Women and Girls. Clin. J. Am. Soc. Nephrol. 11, 1713–1720 (2016).

52. Jais, J. P. et al. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a ‘European Community Alport Syndrome Concerted Action’ study. J. Am. Soc. Nephrol. JASN 14, 2603–2610 (2003).

53. Alport Syndrome. NORD (National Organization for Rare Disorders) https://rarediseases.org/rare-diseases/alport-syndrome/.

54. Kamiyoshi, N. et al. Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome. Clin. J. Am. Soc. Nephrol. 11, 1441–1449 (2016).

55. Downie, M. L., Garcia, S. C. L., Kleta, R. & Bockenhauer, D. Inherited Tubulopathies of the Kidney: Insights from Genetics. Clin. J. Am. Soc. Nephrol. (2020) doi:10.2215/CJN.14481119.

56. Iancu, D. & Ashton, E. Inherited Renal Tubulopathies—Challenges and Controversies. Genes 11, 277 (2020).

57. Knott, L. Renal Tubular Disease. https://patient.info/doctor/renal-tubular-disease.

58. Ven, A. T. van der, Vivante, A. & Hildebrandt, F. Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract. J. Am. Soc. Nephrol. 29, 36–50 (2018).

59. Verbitsky, M. et al. The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nat. Genet. 51, 117–127 (2019).

60. Merle, N. S., Church, S. E., Fremeaux-Bacchi, V. & Roumenina, L. T. Complement System Part I – Molecular Mechanisms of Activation and Regulation. Front. Immunol. 6, (2015).

61. Bajwa, R. et al. C3 Glomerulopathy and Atypical Hemolytic Uremic Syndrome: Two Important Manifestations of Complement System Dysfunction. Case Rep. Nephrol. Dial. 8, 25–34 (2018).

62. Noris, M., Bresin, E., Mele, C. & Remuzzi, G. Genetic Atypical Hemolytic-Uremic Syndrome. in GeneReviews® (eds. Adam, M. P. et al.) (University of Washington, Seattle, 2021).

63. Howles, S. A. & Thakker, R. V. Genetics of kidney stone disease. Nat. Rev. Urol. 17, 407–421 (2020).

64. Sayer, J. A. The Genetics of Nephrolithiasis. Nephron Exp. Nephrol. 110, e37–e43 (2008).

65. Ferraro, P. M., D’Addessi, A. & Gambaro, G. When to suspect a genetic disorder in a patient with renal stones, and why. Nephrol. Dial. Transplant. 28, 811–820 (2013).

66. Weigert, A. & Hoppe, B. Nephrolithiasis and Nephrocalcinosis in Childhood—Risk Factor-Related Current and Future Treatment Options. Front. Pediatr. 6, (2018).

67. Dickson, F. J. & Sayer, J. A. Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition. Int. J. Mol. Sci. 21, 369 (2020).

68. Knoers, N. et al. Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice. Nephrol. Dial. Transplant. 37, 239–254 (2022).

69. Snoek, R. et al. Genetics-first approach improves diagnostics of ESKD patients <50 years old. Nephrol. Dial. Transplant. 37, 349–357 (2022).