Genetic Susceptibility to Chronic Kidney Disease: Links, Risks and Management

References

• Renkema KY, Stokman MF, Giles RH, Knoers NV. Next-generation sequencing for research and diagnostics in kidney disease. Nat Rev Nephrol. 2014;10:433–444. doi:10.1038/nrneph.2014.95
   PubMed Web of Science ®Google Scholar
• Gordon CE, Miskulin DC, Perrone RD. Assessing risk of progression in ADPKD. Clin J Am Soc Nephrol. 2022;17:134–136. doi:10.2215/CJN.13071021
   PubMed Web of Science ®Google Scholar
• Cornec-Le Gall E, Chebib FT, Madsen CD, et al.;. The value of genetic testing in polycystic kidney diseases illustrated by a family with PKD2 and COL4A1 mutations. Am J Kidney Dis. 2018;72:302–308. doi:10.1053/j.ajkd.2017.11.015
   PubMed Web of Science ®Google Scholar
• Liebau MC. Early clinical management of autosomal recessive polycystic kidney disease. Pediatr Nephrol. 2021;36:3561–3570. doi:10.1007/s00467-021-04970-8
   PubMed Web of Science ®Google Scholar
• Wang S, Luo Y, Wilson PD, Witman GB, Zhou J. The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area. J Am Soc Nephrol. 2004;15:592–602. doi:10.1097/01.asn.0000113793.12558.1d
   PubMed Web of Science ®Google Scholar
• Bhutani H, Smith V, Rahbari-Oskoui F, et al. A comparison of ultrasound and magnetic resonance imaging shows that kidney length predicts chronic kidney disease in autosomal dominant polycystic kidney disease. Kidney Int. 2015;88:146–151. doi:10.1038/ki.2015.71
   PubMed Web of Science ®Google Scholar
• Pei Y, Hwang YH, Conklin J, et al. Imaging-based diagnosis of autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2015;26:746–753. doi:10.1681/ASN.2014030297
   PubMed Web of Science ®Google Scholar
• Flahault A, Trystram D, Nataf F, et al. Screening for intracranial aneurysms in autosomal dominant polycystic kidney disease is cost-effective. Kidney Int. 2018;93:716–726. doi:10.1016/j.kint.2017.08.016
   PubMed Web of Science ®Google Scholar
• Alam A, Perrone RD. Management of ESRD in patients with autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis. 2010;17:164–172. doi:10.1053/j.ackd.2009.12.006
   PubMed Web of Science ®Google Scholar
• Chebib FT, Perrone RD, Chapman AB, et al. A practical guide for treatment of rapidly progressive ADPKD with tolvaptan. J Am Soc Nephrol. 2018;29:2458–2470. doi:10.1681/ASN.2018060590
   PubMed Web of Science ®Google Scholar
• Hildebrandt F, Zhou W. Nephronophthisis-associated ciliopathies. J Am Soc Nephrol. 2007;18:1855–1871. doi:10.1681/ASN.2006121344
   PubMed Web of Science ®Google Scholar
• Simms RJ, Hynes AM, Eley L, Sayer JA. Nephronophthisis: a genetically diverse ciliopathy. Int J Nephrol. 2011;2011:527137. doi:10.4061/2011/527137
   PubMedGoogle Scholar
• Tory K, Rousset-Rouviere C, Gubler MC, et al. Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. Kidney Int. 2009;75:839–847. doi:10.1038/ki.2008.662
   PubMed Web of Science ®Google Scholar
• Ha T-S. Genetics of hereditary nephrotic syndrome: a clinical review. Korean J Pediatr. 2017;60:55–63. doi:10.3345/kjp.2017.60.3.55
   PubMedGoogle Scholar
• Benoit G, Machuca E, Antignac C. Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations. Pediatr Nephrol. 2010;25:1621–1632. doi:10.1007/s00467-010-1495-0
   PubMed Web of Science ®Google Scholar
• Joshi S, Andersen R, Jespersen B, Rittig S. Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing. Acta Paediatr. 2013;102:844–856. doi:10.1111/apa.12317
   PubMed Web of Science ®Google Scholar
• Lovric S, Ashraf S, Tan W, Hildebrandt F. Genetic testing in steroid-resistant nephrotic syndrome: when and how? Nephrol Dial Transplant. 2016;31:1802–1813. doi:10.1093/ndt/gfv355
   PubMed Web of Science ®Google Scholar
• Rood IM, Deegens JK, Wetzels JF. Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice. Nephrol Dial Transplant. 2012;27:882–890. doi:10.1093/ndt/gfr771
   PubMed Web of Science ®Google Scholar
• De Vriese AS, Sethi S, Nath KA, Glassock RJ, Fervenza FC. Differentiating primary, genetic, and secondary FSGS in adults: a clinicopathologic approach. J Am Soc Nephrol. 2018;29:759–774. doi:10.1681/asn.2017090958
   PubMed Web of Science ®Google Scholar
• Hinkes BG, Mucha B, Vlangos CN, et al.; Arbeitsgemeinschaft fur Paediatrische Nephrologie Study G. Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics. 2007;119:e907–919. doi:10.1542/peds.2006-2164
   PubMed Web of Science ®Google Scholar
• Machuca E, Benoit G, Nevo F, et al. Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. J Am Soc Nephrol. 2010;21:1209–1217. doi:10.1681/ASN.2009121309
   PubMed Web of Science ®Google Scholar
• Barisoni L, Schnaper HW, Kopp JB. A proposed taxonomy for the podocytopathies: a reassessment of the primary nephrotic diseases. Clin J Am Soc Nephrol. 2007;2:529–542. doi:10.2215/CJN.04121206
   PubMed Web of Science ®Google Scholar
• Barisoni L, Schnaper HW, Kopp JB. Advances in the biology and genetics of the podocytopathies: implications for diagnosis and therapy. Arch Pathol Lab Med. 2009;133:201–216. doi:10.1043/1543-2165-133.2.201
   PubMed Web of Science ®Google Scholar
• Kari JA, Montini G, Bockenhauer D, et al. Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years. Pediatr Nephrol. 2014;29:2173–2180. doi:10.1007/s00467-014-2856-x
   PubMed Web of Science ®Google Scholar
• Li AS, Ingham JF, Lennon R. Genetic disorders of the glomerular filtration barrier. J Clin Am Soc Nephrol. 2020;15:1818–1828. doi:10.2215/CJN.11440919
   PubMed Web of Science ®Google Scholar
• Kemper MJ, Lemke A. Treatment of genetic forms of nephrotic syndrome. Front Pediatr. 2018;6:72. doi:10.3389/fped.2018.00072
   PubMed Web of Science ®Google Scholar
• Smith EE, Malik HS. The apolipoprotein L family of programmed cell death and immunity genes rapidly evolved in primates at discrete sites of host-pathogen interactions. Genome Res. 2009;19:850–858. doi:10.1101/gr.085647.108
   PubMed Web of Science ®Google Scholar
• Patrakka J, Tryggvason K. Molecular make-up of the glomerular filtration barrier. Biochem Biophys Res Commun. 2010;396:164–169. doi:10.1016/j.bbrc.2010.04.069
   PubMed Web of Science ®Google Scholar
• Genovese G, Friedman DJ, Ross MD, et al. Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science. 2010;329:841–845. doi:10.1126/science.1193032
   PubMed Web of Science ®Google Scholar
• Kasembeli AN, Duarte R, Ramsay M, et al. APOL1 risk variants are strongly associated with HIV-associated nephropathy in black South Africans. J Am Soc Nephrol. 2015;26:2882–2890. doi:10.1681/ASN.2014050469
   PubMed Web of Science ®Google Scholar
• Kopp JB, Nelson GW, Sampath K, et al. APOL1 genetic variants in focal segmental glomerulosclerosis and HIV-associated nephropathy. J Am Soc Nephrol. 2011;22:2129–2137. doi:10.1681/ASN.2011040388
   PubMed Web of Science ®Google Scholar
• Beckerman P, Susztak K. APOL1: the balance imposed by infection, selection, and kidney disease. Trends Mol Med. 2018;24:682–695. doi:10.1016/j.molmed.2018.05.008
   PubMed Web of Science ®Google Scholar
• Larsen CP, Beggs ML, Saeed M, Walker PD. Apolipoprotein L1 risk variants associate with systemic lupus erythematosus-associated collapsing glomerulopathy. J Am Soc Nephrol. 2013;24:722–725. doi:10.1681/ASN.2012121180
   PubMed Web of Science ®Google Scholar
• Larsen CP, Beggs ML, Walker PD, Saeed M, Ambruzs JM, Messias NC. Histopathologic effect of APOL1 risk alleles in PLA2R-associated membranous glomerulopathy. Am J Kidney Dis. 2014;64:161–163. doi:10.1053/j.ajkd.2014.02.024
   PubMed Web of Science ®Google Scholar
• Friedman DJ, Ma L, Freedman BI. Treatment potential in APOL1-associated nephropathy. Curr Opin Nephrol Hypertens. 2022;31:442–448. doi:10.1097/mnh.0000000000000816
   PubMed Web of Science ®Google Scholar
• Sridharan M, Go RS, Willrich MAV. Atypical hemolytic uremic syndrome: review of clinical presentation, diagnosis and management. J Immunol Methods. 2018;461:15–22. doi:10.1016/j.jim.2018.07.006
   PubMed Web of Science ®Google Scholar
• Bu F, Maga T, Meyer NC, et al. Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2014;25:55–64. doi:10.1681/ASN.2013050453
   PubMed Web of Science ®Google Scholar
• Cofiell R, Kukreja A, Bedard K, et al. Eculizumab reduces complement activation, inflammation, endothelial damage, thrombosis, and renal injury markers in aHUS. Blood. 2015;125:3253–3262. doi:10.1182/blood-2014-09-600411
   PubMed Web of Science ®Google Scholar
• Bobart SA, Alexander MP, Bentall A. Recurrent glomerulonephritis in the kidney allograft. Indian J Nephrol. 2020;30:359–369. doi:10.4103/ijn.IJN_193_19
   PubMed Web of Science ®Google Scholar
• Sundaramoorthy M, Meiyappan M, Todd P, Hudson BG. Crystal structure of NC1 domains. Structural basis for type IV collagen assembly in basement membranes. J Biol Chem. 2002;277:31142–31153. doi:10.1074/jbc.M201740200
   PubMed Web of Science ®Google Scholar
• Alport AC. Hereditary familial congenital haemorrhagic nephritis. Br Med J. 1927;1:504–506. doi:10.1136/bmj.1.3454.504
   PubMedGoogle Scholar
• Gibson J, Fieldhouse R, Chan MMY, et al. Genomics England research c: prevalence estimates of predicted pathogenic COL4A3-COL4A5 variants in a population sequencing database and their implications for alport syndrome. J Am Soc Nephrol. 2021;32:2273–2290. doi:10.1681/ASN.2020071065
   PubMed Web of Science ®Google Scholar
• Wing AJ, Brunner FP. Twenty-three years of dialysis and transplantation in Europe: experiences of the EDTA Registry. Am J Kidney Dis. 1989;14:341–346. doi:10.1016/s0272-6386(89)80165-9
   PubMed Web of Science ®Google Scholar
• Kashtan CE, Ding J, Garosi G, et al. Alport syndrome: a unified classification of genetic disorders of collagen IV alpha345: a position paper of the Alport Syndrome Classification Working Group. Kidney Int. 2018;93:1045–1051. doi:10.1016/j.kint.2017.12.018
   PubMed Web of Science ®Google Scholar
• Hudson BG. The molecular basis of Goodpasture and Alport syndromes: beacons for the discovery of the collagen IV family. J Am Soc Nephrol. 2004;15:2514–2527. doi:10.1097/01.ASN.0000141462.00630.76
   PubMed Web of Science ®Google Scholar
• Kashtan CE, Segal Y. Genetic disorders of glomerular basement membranes. Nephron Clin Pract. 2011;118:c9–c18. doi:10.1159/000320876
   PubMedGoogle Scholar
• Rumpelt HJ. Hereditary nephropathy (Alport syndrome): correlation of clinical data with glomerular basement membrane alterations. Clin Nephrol. 1980;13:203–207.
   PubMed Web of Science ®Google Scholar
• Funk SD, Lin MH, Miner JH. Alport syndrome and Pierson syndrome: diseases of the glomerular basement membrane. Matrix Biol. 2018;71:250–261. doi:10.1016/j.matbio.2018.04.008
   PubMed Web of Science ®Google Scholar
• Gubler M, Levy M, Broyer M, et al. Alport’s syndrome. A report of 58 cases and a review of the literature. Am J Med. 1981;70:493–505. doi:10.1016/0002-9343(81)90571-4
   PubMed Web of Science ®Google Scholar
• Kamiyoshi N, Nozu K, Fu XJ, et al. Genetic, clinical, and pathologic backgrounds of patients with autosomal dominant alport syndrome. Clin J Am Soc Nephrol. 2016;11:1441–1449. doi:10.2215/CJN.01000116
   PubMed Web of Science ®Google Scholar
• Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F. Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol. 2013;24:364–375. doi:10.1681/ASN.2012020148
   PubMed Web of Science ®Google Scholar
• Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D. Ocular features in Alport syndrome: pathogenesis and clinical significance. Clin J Am Soc Nephrol. 2015;10:703–709. doi:10.2215/CJN.10581014
   PubMed Web of Science ®Google Scholar
• Nozu K, Nakanishi K, Abe Y, et al. A review of clinical characteristics and genetic backgrounds in Alport syndrome. Clin Exp Nephrol. 2019;23:158–168. doi:10.1007/s10157-018-1629-4
   PubMed Web of Science ®Google Scholar
• Kashtan CE, Gross O. Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020. Pediatr Nephrol. 2021;36:711–719. doi:10.1007/s00467-020-04819-6
   PubMed Web of Science ®Google Scholar
• Boeckhaus J, Gross O. Sodium-glucose cotransporter-2 inhibitors in patients with hereditary podocytopathies, alport syndrome, and FSGS: a case series to better plan a large-scale study. Cells. 2021;10. doi:10.3390/cells10071815
   PubMed Web of Science ®Google Scholar
• Kashtan CE. Alport syndrome: achieving early diagnosis and treatment. Am J Kidney Dis. 2021;77:272–279. doi:10.1053/j.ajkd.2020.03.026
   PubMed Web of Science ®Google Scholar
• Torra R, Furlano M. New therapeutic options for Alport syndrome. Nephrol Dial Transplant. 2019;34:1272–1279. doi:10.1093/ndt/gfz131
   PubMed Web of Science ®Google Scholar
• Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30. doi:10.1186/1750-1172-5-30
   PubMed Web of Science ®Google Scholar
• Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999;281:249–254. doi:10.1001/jama.281.3.249
   PubMed Web of Science ®Google Scholar
• Genomes Project C, Abecasis GR, Auton A, et al. An integrated map of genetic variation from 1092 human genomes. Nature. 2012;491:56–65. doi:10.1038/nature11632
   PubMed Web of Science ®Google Scholar
• Koulousios K, Stylianou K, Pateinakis P, et al. Fabry disease due to D313Y and novel GLA mutations. BMJ Open. 2017;7:e017098. doi:10.1136/bmjopen-2017-017098
   PubMed Web of Science ®Google Scholar
• Kurschat CE. Fabry disease-what cardiologists can learn from the nephrologist: a narrative review. Cardiovasc Diagn Ther. 2021;11:672–682. doi:10.21037/cdt-20-981
   PubMed Web of Science ®Google Scholar
• Feehally JFJ, Johnson RJ, Tonelli M. Comprehensive Clinical Nephrology. 6th ed. Elsevier. 2019.
   Google Scholar
• Blom D, Speijer D, Linthorst GE, Donker-Koopman WG, Strijland A, Aerts JM. Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA. Am J Hum Genet. 2003;72:23–31. doi:10.1086/345309
   PubMed Web of Science ®Google Scholar
• Sestito S, Falvo F, Sallemi A, et al. Renal involvement in paediatric Fabry disease. J Biol Regul Homeost Agents. 2019;33:59–63.
   PubMed Web of Science ®Google Scholar
• Becker GJ, Nicholls K. Lipiduria--with special relevance to Fabry disease. Clin Chem Lab Med. 2015;53(Suppl 2):s1465–1470. doi:10.1515/cclm-2015-0499
   PubMedGoogle Scholar
• Utsumi K, Mitsuhashi F, Katsura K, Iino Y, Katayama Y. ”Maltese crosses” in fabry disease. J Nippon Med Sch. 2010;77:284. doi:10.1272/jnms.77.284
   PubMedGoogle Scholar
• Alroy J, Sabnis S, Kopp JB. Renal pathology in Fabry disease. J Am Soc Nephrol. 2002;13(Suppl 2):S134–138.
   PubMed Web of Science ®Google Scholar
• Najafian B, Fogo AB, Lusco MA, Alpers CE. AJKD atlas of renal pathology: fabry nephropathy. Am J Kidney Dis. 2015;66:e35–36. doi:10.1053/j.ajkd.2015.08.006
   PubMed Web of Science ®Google Scholar
• Torra R. Renal manifestations in Fabry disease and therapeutic options. Kidney Int Suppl. 2008;S29–32. doi:10.1038/ki.2008.522
   PubMedGoogle Scholar
• Ortiz A, Kanters S, Hamed A, et al. Agalsidase beta treatment slows estimated glomerular filtration rate loss in classic Fabry disease patients: results from an individual patient data meta-analysis. Clin Kidney J. 2021;14:1136–1146. doi:10.1093/ckj/sfaa065
   PubMed Web of Science ®Google Scholar
• Song R, Yosypiv IV. Genetics of congenital anomalies of the kidney and urinary tract. Pediatr Nephrol. 2011;26:353–364. doi:10.1007/s00467-010-1629-4
   PubMed Web of Science ®Google Scholar
• van der Ven AT, Vivante A, Hildebrandt F. Novel insights into the pathogenesis of monogenic congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol. 2018;29:36–50. doi:10.1681/asn.2017050561
   PubMed Web of Science ®Google Scholar
• Mackie GG, Stephens FD. Duplex kidneys: a correlation of renal dysplasia with position of the ureteral orifice. J Urol. 1975;114:274–280. doi:10.1016/s0022-5347(17)67007-1
   PubMed Web of Science ®Google Scholar
• Murugapoopathy V, Gupta IR. A primer on congenital anomalies of the kidneys and urinary tracts (CAKUT). Clin J Am Soc Nephrol. 2020;15:723. doi:10.2215/CJN.12581019
   PubMed Web of Science ®Google Scholar
• Saisawat P, Tasic V, Vega-Warner V, et al. Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. Kidney Int. 2012;81:196–200. doi:10.1038/ki.2011.315
   PubMed Web of Science ®Google Scholar
• Nicolaou N, Pulit SL, Nijman IJ, et al. Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT. Kidney Int. 2016;89:476–486. doi:10.1038/ki.2015.319
   PubMed Web of Science ®Google Scholar
• Nicolaou N, Renkema KY, Bongers EM, Giles RH, Knoers NV. Genetic, environmental, and epigenetic factors involved in CAKUT. Nat Rev Nephrol. 2015;11:720–731. doi:10.1038/nrneph.2015.140
   PubMed Web of Science ®Google Scholar
• Wuhl E, van Stralen KJ, Verrina E, et al. Timing and outcome of renal replacement therapy in patients with congenital malformations of the kidney and urinary tract. Clin J Am Soc Nephrol. 2013;8:67–74. doi:10.2215/CJN.03310412
   PubMed Web of Science ®Google Scholar
• Eckardt KU, Alper SL, Antignac C, et al. Kidney Disease: improving Global O: autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. Kidney Int. 2015;88:676–683. doi:10.1038/ki.2015.28
   PubMed Web of Science ®Google Scholar
• Dahan K, Devuyst O, Smaers M, et al. A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. J Am Soc Nephrol. 2003;14:2883–2893. doi:10.1097/01.asn.0000092147.83480.b5
   PubMed Web of Science ®Google Scholar
• Hart TC, Gorry MC, Hart PS, et al. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet. 2002;39:882–892. doi:10.1136/jmg.39.12.882
   PubMed Web of Science ®Google Scholar
• Olinger E, Hofmann P, Kidd K, et al. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1. Kidney Int. 2020;98:717–731. doi:10.1016/j.kint.2020.04.038
   PubMed Web of Science ®Google Scholar
• Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, Sovik O. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. Hum Mol Genet. 1999;8:2001–2008. doi:10.1093/hmg/8.11.2001
   PubMed Web of Science ®Google Scholar
• Zivna M, Kidd K, Zaidan M, et al. An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes. Kidney Int. 2020;98:1589–1604. doi:10.1016/j.kint.2020.06.041
   PubMed Web of Science ®Google Scholar
• Groopman EE, Marasa M, Cameron-Christie S, et al. Diagnostic utility of exome sequencing for kidney disease. N Engl J Med. 2019;380:142–151. doi:10.1056/NEJMoa1806891
   PubMed Web of Science ®Google Scholar
• Bollee G, Dahan K, Flamant M, et al. Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations. Clin J Am Soc Nephrol. 2011;6:2429–2438. doi:10.2215/CJN.01220211
   PubMed Web of Science ®Google Scholar
• Moskowitz JL, Piret SE, Lhotta K, et al. Association between genotype and phenotype in uromodulin-associated kidney disease. Clin J Am Soc Nephrol. 2013;8:1349–1357. doi:10.2215/CJN.11151012
   PubMed Web of Science ®Google Scholar
• Bleyer AJ, Kmoch S, Antignac C, et al. Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. Clin J Am Soc Nephrol. 2014;9:527–535. doi:10.2215/CJN.06380613
   PubMed Web of Science ®Google Scholar
• Faguer S, Decramer S, Chassaing N, et al. Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. Kidney Int. 2011;80:768–776. doi:10.1038/ki.2011.225
   PubMed Web of Science ®Google Scholar
• Heidet L, Decramer S, Pawtowski A, et al. Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol. 2010;5:1079–1090. doi:10.2215/CJN.06810909
   PubMed Web of Science ®Google Scholar
• Ayasreh N, Bullich G, Miquel R, et al. Autosomal dominant tubulointerstitial kidney disease: clinical presentation of patients with ADTKD-UMOD and ADTKD-MUC1. Am J Kidney Dis. 2018;72:411–418. doi:10.1053/j.ajkd.2018.03.019
   PubMed Web of Science ®Google Scholar
• Ekici AB, Hackenbeck T, Moriniere V, et al. Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin. Kidney Int. 2014;86:589–599. doi:10.1038/ki.2014.72
   PubMed Web of Science ®Google Scholar
• Onoe T, Hara S, Yamada K, et al. Significance of kidney biopsy in autosomal dominant tubulointerstitial kidney disease-UMOD: is kidney biopsy truly nonspecific? BMC Nephrol. 2021;22:1. doi:10.1186/s12882-020-02169-x
   PubMed Web of Science ®Google Scholar
• Mabillard H, Sayer JA, Olinger E. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease. Nephrol Dial Transplant. 2021. doi:10.1093/ndt/gfab268
   Web of Science ®Google Scholar
• Rampoldi L, Scolari F, Amoroso A, Ghiggeri G, Devuyst O. The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease. Kidney Int. 2011;80:338–347. doi:10.1038/ki.2011.134
   PubMed Web of Science ®Google Scholar
• Bernascone I, Janas S, Ikehata M, et al. A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure. Hum Mol Genet. 2010;19:2998–3010. doi:10.1093/hmg/ddq205
   PubMed Web of Science ®Google Scholar
• Kraus S, Abel PD, Nachtmann C, et al. MUC1 mucin and trefoil factor 1 protein expression in renal cell carcinoma: correlation with prognosis. Hum Pathol. 2002;33:60–67. doi:10.1053/hupa.2002.29682
   PubMed Web of Science ®Google Scholar
• Leroy X, Zerimech F, Zini L, et al. MUC1 expression is correlated with nuclear grade and tumor progression in pT1 renal clear cell carcinoma. Am J Clin Pathol. 2002;118:47–51. doi:10.1309/1F99-BPDY-7DHH-9G97
   PubMed Web of Science ®Google Scholar
• Kirby A, Gnirke A, Jaffe DB, et al. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet. 2013;45:299–303. doi:10.1038/ng.2543
   PubMed Web of Science ®Google Scholar
• Coffinier C, Barra J, Babinet C, Yaniv M. Expression of the vHNF1/HNF1beta homeoprotein gene during mouse organogenesis. Mech Dev. 1999;89:211–213. doi:10.1016/s0925-4773(99)00221-x
   PubMed Web of Science ®Google Scholar
• Kolatsi-Joannou M, Bingham C, Ellard S, et al. Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development. J Am Soc Nephrol. 2001;12:2175–2180. doi:10.1681/ASN.V12102175
   PubMed Web of Science ®Google Scholar
• Devuyst O, Olinger E, Weber S, et al. Autosomal dominant tubulointerstitial kidney disease. Nat Rev Dis Primers. 2019;5:60. doi:10.1038/s41572-019-0109-9
   PubMed Web of Science ®Google Scholar
• Prieto MC, Gonzalez AA, Navar LG. Evolving concepts on regulation and function of renin in distal nephron. Pflugers Arch. 2013;465:121–132. doi:10.1007/s00424-012-1151-6
   PubMed Web of Science ®Google Scholar
• Schaeffer C, Izzi C, Vettori A, et al. Autosomal dominant tubulointerstitial kidney disease with adult onset due to a novel renin mutation mapping in the mature protein. Sci Rep. 2019;9:11601. doi:10.1038/s41598-019-48014-6
   PubMed Web of Science ®Google Scholar
• Labriola L, Olinger E, Belge H, Pirson Y, Dahan K, Devuyst O. Paradoxical response to furosemide in uromodulin-associated kidney disease. Nephrol Dial Transplant. 2015;30:330–335. doi:10.1093/ndt/gfu389
   PubMed Web of Science ®Google Scholar
• Howles SA, Thakker RV. Genetics of kidney stone disease. Nat Rev Urol. 2020;17:407–421. doi:10.1038/s41585-020-0332-x
   PubMed Web of Science ®Google Scholar
• Ferraro PM, D’Addessi A, Gambaro G. When to suspect a genetic disorder in a patient with renal stones, and why. Nephrol Dial Transplant. 2013;28:811–820. doi:10.1093/ndt/gfs545
   PubMed Web of Science ®Google Scholar
• Rumsby G. Genetic defects underlying renal stone disease. Int J Surg. 2016;36:590–595. doi:10.1016/j.ijsu.2016.11.015
   PubMed Web of Science ®Google Scholar
• Sas DJ, Enders FT, Mehta RA, et al. Clinical features of genetically confirmed patients with primary hyperoxaluria identified by clinical indication versus familial screening. Kidney Int. 2020;97:786–792. doi:10.1016/j.kint.2019.11.023
   PubMed Web of Science ®Google Scholar
• Hopp K, Cogal AG, Bergstralh EJ, et al.; Rare Kidney Stone C. Phenotype-genotype correlations and estimated carrier frequencies of primary hyperoxaluria. J Am Soc Nephrol. 2015;26:2559–2570. doi:10.1681/ASN.2014070698
   PubMed Web of Science ®Google Scholar
• Servais A, Thomas K, Dello Strologo L, et al. Metabolic nephropathy workgroup of the European reference network for rare kidney D, eUrogen: cystinuria: clinical practice recommendation. Kidney Int. 2021;99:48–58. doi:10.1016/j.kint.2020.06.035
   PubMedGoogle Scholar
• Sayer JA. The genetics of nephrolithiasis. Nephron Exp Nephrol. 2008;110:e37–43. doi:10.1159/000151730
   PubMedGoogle Scholar
• Oliveira B, Kleta R, Bockenhauer D, Walsh SB. Genetic, pathophysiological, and clinical aspects of nephrocalcinosis. Am J Physiol Renal Physiol. 2016;311:F1243–F1252. doi:10.1152/ajprenal.00211.2016
   PubMed Web of Science ®Google Scholar
• Elshamaa MF, Fadel FI, Kamel S, Farouk H, Alahmady M, Ramadan Y. Genetic polymorphisms in CLDN14 (rs219780) and ALP (rs1256328) genes are associated with risk of nephrolithiasis in Egyptian children. Turk J Urol. 2021;47:73–80. doi:10.5152/tud.2020.20141
   PubMed Web of Science ®Google Scholar