The renal biopsy in the genomic era

Pediatric Nephrology

Volumn 28, Issue 8, 2013, Pages 1207-1219

  Liapis, Helen ^a   Gaut, Joseph P ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Biopsy; Diagnostic criteria; Genomics; Molecular; Renal

Indexed keywords

CALCINEURIN INHIBITOR; CYCLOSPORIN A; STEROID;

DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; ELECTRON MICROSCOPY; GENOME ANALYSIS; GENOMICS; HISTOPATHOLOGY; HUMAN; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; KIDNEY BIOPSY; KIDNEY DISEASE; MICROARRAY ANALYSIS; MUTATIONAL ANALYSIS; NEPHROTIC SYNDROME; POLYMERASE CHAIN REACTION; PRACTICE GUIDELINE; PRIORITY JOURNAL; PROGNOSIS; REVIEW;

ANIMALS; BIOPSY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOMICS; HUMANS; KIDNEY; KIDNEY DISEASES; PHENOTYPE; PREDICTIVE VALUE OF TESTS; PROGNOSIS;

EID: 84879976031     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-012-2356-9     Document Type: Review

References (110)

1. Iverson P, Brun C (1951) Aspiration biopsy of the kidney. Am J Med 1:324-330
2. Fogazzi GB, Cameron JS (1999) The early introduction of percutaneous renal biopsy in Italy. Kidney Int 56:1951-1961
3. Heptinstall RH (1990) The development of renal pathology. Am J Kidney Dis 16:568-573
4. Bergsttand A (1957) Electron microscopic investigations of the renal glomeruli. Lab Investig 6:191-204
5. Dixon FJ, Wilson CB (1990) The development of immunopathologic investigation of kidney disease. Am J Kidney Dis 16:574-578
6. Germuth FG Jr, Senterfit LB, Pollack AD (1967) Immune complex disease. I. Experimental acute and chronic glomerulonephritis. Johns Hopkins Med J 120:225-251
7. Wilson CB, Dixon FJ (1974) Immunopathology and glomerulonephritis. Annu Rev Med 25:83-98
8. Silva FG, Pirani CL (1988) Electron microscopic study of medical diseases of the kidney: update-1988. Mod Pathol 1:292-315
9. Weening JJ, Jennette JC (2012) Historical milestones in renal pathology. Virchows Arch 461:3-11
10. Walker PD, Cavallo T, Bonsib SM (2004) Practice guidelines for the renal biopsy. Mod Pathol 17:1555-1563
11. Fogo AB (2003) Approach to renal biopsy. Am J Kidney Dis 42:826-836
12. Walker PD (2009) The renal biopsy. Arch Pathol Lab Med 133:181-188
13. Furness PN (2000) ACP. Best practice no 160. Renal biopsy specimens. J Clin Pathol 53:433-438
14. Racusen LC, Solez K, Colvin RB, Bonsib SM, Castro MC, Cavallo T, Croker BP, Demetris AJ, Drachenberg CB, Fogo AB, Furness P, Gaber LW, Gibson IW, Glotz D, Goldberg JC, Grande J, Halloran PF, Hansen HE, Hartley B, Hayry PJ, Hill CM, Hoffman EO, Hunsicker LG, Lindblad AS, Marcussen N, Mihatsch MJ, Nadasdy T, Nickerson P, Olsen TS, Papadimitriou JC, Randhawa PS, Rayner DC, Roberts I, Rose S, Rush D, Salinas-Madrigal L, Salomon DR, Sund S, Taskinen E, Trpkov K, Yamaguchi Y (1999) The Banff 97 working classification of renal allograft pathology. Kidney Int 55:713-723
15. Pullman JM, Ferrario F, Nast CC (2007) Actual practices in nephropathology: a survey and comparison with best practices. Adv Anat Pathol 14:132-140
16. Rivera A, Magliato S, Meleg-Smith S (2001) Value of electron microscopy in the diagnosis of childhood nephrotic syndrome. Ultrastruct Pathol 25:313-320
17. Haas M (1997) A reevaluation of routine electron microscopy in the examination of native renal biopsies. J Am Soc Nephrol 8:70-76
18. Haas M (2003) Incidental healed postinfectious glomerulonephritis: a study of 1012 renal biopsy specimens examined by electron microscopy. Hum Pathol 34:3-10
19. Vogler C, Rosenberg HS, Williams JC, Butler I (1987) Electron microscopy in the diagnosis of lysosomal storage diseases. Am J Med Genet Suppl 3:243-255
20. Alchi B, Nishi S, Narita I, Gejyo F (2007) Collagenofibrotic glomerulopathy: clinicopathologic overview of a rare glomerular disease. Am J Kidney Dis 49:499-506
21. Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, Caridi G, Piemonte F, Montini G, Ghiggeri GM, Murer L, Barisoni L, Pastore A, Muda AO, Valente ML, Bertini E, Emma F (2007) COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol 18:2773-2780
22. Löwik MM, Hol FA, Steenbergen EJ, Wetzels JF, van den Heuvel LP (2005) Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis. Nephrol Dial Transplant 20:336-341
23. Lemley KV (2009) Kidney disease in nail-patella syndrome. Pediatr Nephrol 24:2345-2354
24. Hovig T, Gjone E (1973) Familial plasma lecithin: cholesterol acyltransferase (LCAT) deficiency. Ultrastructural aspects of a new syndrome with particular reference to lesions in the kidneys and the spleen. Acta Pathol Microbiol Scand A 81:681-697
25. Joosten H, Strunk AL, Meijer S, Boers JE, Aries MJ, Abbes AP, Engel H, Beukhof JR (2010) An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review. Clin Nephrol 73:454-472
26. Rovin BH, Roncone D, McKinley A, Nadasdy T, Korbet SM, Schwartz MM (2007) APOE Kyoto mutation in European Americans with lipoprotein glomerulopathy. N Engl J Med 357:2522-2524
27. Saito T, Sato H, Kudo K, Oikawa S, Shibata T, Hara Y, Yoshinaga K, Sakaguchi H (1989) Lipoprotein glomerulopathy: glomerular lipoprotein thrombi in a patient with hyperlipoproteinemia. Am J Kidney Dis 13:148-153
28. Ramaswami U, Najafian B, Schieppati A, Mauer M, Bichet DG (2010) Assessment of renal pathology and dysfunction in children with Fabry disease. Clin J Am Soc Nephrol 5:365-370
29. Zarate YA, Hopkin RJ (2008) Fabry's disease. Lancet 372:1427-1435
30. Faraggiana T, Churg J (1987) Renal lipidoses: a review. Hum Pathol 18:661-679
31. Santoro D, Rosenbloom BE, Cohen AH (2002) Gaucher disease with nephrotic syndrome: response to enzyme replacement therapy. Am J Kidney Dis 40:E4
32. Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, Friez MJ (2010) Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet 47:38-48
33. Kudo M, Brem MS, Canfield WM (2006) Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha/beta -subunits precursor gene. Am J Hum Genet 78:451-463
34. Spear GS (1974) Pathology of the kidney in cystinosis. Pathol Annu 9:81-92
35. Wilmer MJ, Schoeber JP, van den Heuvel LP, Levtchenko EN (2011) Cystinosis: practical tools for diagnosis and treatment. Pediatr Nephrol 26:205-215
36. Haas M, Mirocha J (2011) Early ultrastructural changes in renal allografts: correlation with antibody-mediated rejection and transplant glomerulopathy. Am J Transplant 11:2123-2131
37. Solez K, Colvin RB, Racusen LC, Haas M, Sis B, Mengel M, Halloran PF, Baldwin W, Banfi G, Collins AB, Cosio F, David DS, Drachenberg C, Einecke G, Fogo AB, Gibson IW, Glotz D, Iskandar SS, Kraus E, Lerut E, Mannon RB, Mihatsch M, Nankivell BJ, Nickeleit V, Papadimitriou JC, Randhawa P, Regele H, Renaudin K, Roberts I, Seron D, Smith RN, Valente M (2008) Banff 07 classification of renal allograft pathology: updates and future directions. Am J Transplant 8:753-760
38. Abed L, Merouani A, Haddad E, Benoit G, Oligny LL, Sartelet H (2008) Presence of autoantibodies against tubular and uveal cells in a patient with tubulointerstitial nephritis and uveitis (TINU) syndrome. Nephrol Dial Transplant 23:1452-1455
39. Emma F, Bertini E, Salviati L, Montini G (2012) Renal involvement in mitochondrial cytopathies. Pediatr Nephrol 27:539-550
40. Iijima K, Hamahira K, Tanaka R, Kobayashi A, Nozu K, Nakamura H, Yoshikawa N (2002) Risk factors for cyclosporine-induced tubulointerstitial lesions in children with minimal change nephrotic syndrome. Kidney Int 61:1801-1805
41. Kobayashi Y, Honda M, Yoshikawa N, Ito H (2000) Acute tubulointerstitial nephritis in 21 Japanese children. Clin Nephrol 54:191-197
42. Martin-Hernandez E, Garcia-Silva MT, Vara J, Campos Y, Cabello A, Muley R, Del Hoyo P, Martin MA, Arenas J (2005) Renal pathology in children with mitochondrial diseases. Pediatr Nephrol 20:1299-1305
43. Patzer L (2008) Nephrotoxicity as a cause of acute kidney injury in children. Pediatr Nephrol 23:2159-2173
44. Vasoo S (2006) Drug-induced lupus: an update. Lupus 15:757-761
45. Bennett MR, Czech KA, Arend LJ, Witte DP, Devarajan P, Potter SS (2007) Laser capture microdissection-microarray analysis of focal segmental glomerulosclerosis glomeruli. Nephron Exp Nephrol 107:e30-e40
46. Schmid H, Cohen CD, Henger A, Schlondorff D, Kretzler M (2004) Gene expression analysis in renal biopsies. Nephrol Dial Transplant 19:1347-1351
47. Sethi S, Vrana JA, Theis JD, Leung N, Sethi A, Nasr SH, Fervenza FC, Cornell LD, Fidler ME, Dogan A (2012) Laser microdissection and mass spectrometry-based proteomics aids the diagnosis and typing of renal amyloidosis. Kidney Int 82:226-234
48. Baelde HJ, Eikmans M, Doran PP, Lappin DW, de Heer E, Bruijn JA (2004) Gene expression profiling in glomeruli from human kidneys with diabetic nephropathy. Am J Kidney Dis 43:636-650
49. Einecke G, Reeve J, Sis B, Mengel M, Hidalgo L, Famulski KS, Matas A, Kasiske B, Kaplan B, Halloran PF (2010) A molecular classifier for predicting future graft loss in late kidney transplant biopsies. J Clin Invest 120:1862-1872
50. Hodgin JB, Borczuk AC, Nasr SH, Markowitz GS, Nair V, Martini S, Eichinger F, Vining C, Berthier CC, Kretzler M, D'Agati VD (2010) A molecular profile of focal segmental glomerulosclerosis from formalin-fixed, paraffin-embedded tissue. Am J Pathol 177:1674-1686
51. Hodgin JB, Cohen CD (2010) Experimental approaches to the human renal transcriptome. Semin Nephrol 30:455-467
52. Pallet N, Thervet E, Desjardins M (2011) Interpreting gene-expression profiles in transplantation: a critical appraisal. Front Genet 2:98
53. Jain S, Suarez AA, McGuire J, Liapis H (2007) Expression profiles of congenital renal dysplasia reveal new insights into renal development and disease. Pediatr Nephrol 22:962-974
54. Peterson KS, Huang JF, Zhu J, D'Agati V, Liu X, Miller N, Erlander MG, Jackson MR, Winchester RJ (2004) Characterization of heterogeneity in the molecular pathogenesis of lupus nephritis from transcriptional profiles of laser-captured glomeruli. J Clin Invest 113:1722-1733
55. Sethi S, Fervenza FC, Zhang Y, Zand L, Vrana JA, Nasr SH, Theis JD, Dogan A, Smith RJ (2012) C3 glomerulonephritis: clinicopathological findings, complement abnormalities, glomerular proteomic profile, treatment, and follow-up. Kidney Int 82:465-473
56. Liapis H (2008) Molecular pathology of nephrotic syndrome in childhood: a contemporary approach to diagnosis. Pediatr Dev Pathol 11:154-163
57. Benoit G, Machuca E, Heidet L, Antignac C (2010) Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes. Ann N Y Acad Sci 1214:83-98
58. Chiang CK, Inagi R (2010) Glomerular diseases: genetic causes and future therapeutics. Nat Rev Nephrol 6:539-554
59. Hertz JM (2009) Alport syndrome. Molecular genetic aspects. Dan Med Bull 56:105-152
60. Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schroder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC (2000) X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol 11:649-657
61. Artuso R, Fallerini C, Dosa L, Scionti F, Clementi M, Garosi G, Massella L, Epistolato MC, Mancini R, Mari F, Longo I, Ariani F, Renieri A, Bruttini M (2012) Advances in Alport syndrome diagnosis using next-generation sequencing. Eur J Hum Genet 20:50-57
62. Deltas C, Pierides A, Voskarides K (2012) The role of molecular genetics in diagnosing familial hematuria(s). Pediatr Nephrol 27:1221-1231
63. Liapis H, Gokden N, Hmiel P, Miner JH (2002) Histopathology, ultrastructure, and clinical phenotypes in thin glomerular basement membrane disease variants. Hum Pathol 33:836-845
64. Rana K, Wang YY, Powell H, Jones C, McCredie D, Buzza M, Udawela M, Savige J (2005) Persistent familial hematuria in children and the locus for thin basement membrane nephropathy. Pediatr Nephrol 20:1729-1737
65. Tsiakkis D, Pieri M, Koupepidou P, Demosthenous P, Panayidou K, Deltas C (2012) Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5. Clin Genet 82:297-299
66. Löwik MM, Groenen PJ, Levtchenko EN, Monnens LA, van den Heuvel LP (2009) Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis - a review. Eur J Pediatr 168:1291-1304
67. Rood IM, Deegens JK, Wetzels JF (2012) Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice. Nephrol Dial Transplant 27:882-890
68. Rheault MN (2012) Women and Alport syndrome. Pediatr Nephrol 27:41-46
69. Hinkes BG, Mucha B, Vlangos CN, Gbadegesin R, Liu J, Hasselbacher K, Hangan D, Ozaltin F, Zenker M, Hildebrandt F (2007) 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 119:e907-e919
70. Santin S, Garcia-Maset R, Ruiz P, Gimenez I, Zamora I, Pena A, Madrid A, Camacho JA, Fraga G, Sanchez-Moreno A, Cobo MA, Bernis C, Ortiz A, de Pablos AL, Pintos G, Justa ML, Hidalgo-Barquero E, Fernandez-Llama P, Ballarin J, Ars E, Torra R (2009) Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. Kidney Int 76:1268-1276
71. Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C (2000) NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 24:349-354
72. Hildebrandt F, Heeringa SF (2009) Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life. Kidney Int 75:669-671
73. Henderson JM, Alexander MP, Pollak MR (2009) Patients with ACTN4 mutations demonstrate distinctive features of glomerular injury. J Am Soc Nephrol 20:961-968
74. Kaplan JM, Kim SH, North KN, Rennke H, Correia LA, Tong HQ, Mathis BJ, Rodriguez-Perez JC, Allen PG, Beggs AH, Pollak MR (2000) Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet 24:251-256
75. Gbadegesin R, Hinkes BG, Hoskins BE, Vlangos CN, Heeringa SF, Liu J, Loirat C, Ozaltin F, Hashmi S, Ulmer F, Cleper R, Ettenger R, Antignac C, Wiggins RC, Zenker M, Hildebrandt F (2008) Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). Nephrol Dial Transplant 23:1291-1297
76. Habib R, Gubler MC, Antignac C, Gagnadoux MF (1993) Diffuse mesangial sclerosis: a congenital glomerulopathy with nephrotic syndrome. Adv Nephrol Necker Hosp 22:43-57
77. Jeanpierre C, Denamur E, Henry I, Cabanis MO, Luce S, Cecille A, Elion J, Peuchmaur M, Loirat C, Niaudet P, Gubler MC, Junien C (1998) Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. Am J Hum Genet 62:824-833
78. Cohen AH, Turner MC (1994) Kidney in Galloway-Mowat syndrome: clinical spectrum with description of pathology. Kidney Int 45:1407-1415
79. Gigante M, Pontrelli P, Montemurno E, Roca L, Aucella F, Penza R, Caridi G, Ranieri E, Ghiggeri GM, Gesualdo L (2009) CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS). Nephrol Dial Transplant 24:1858-1864
80. Shih NY, Li J, Karpitskii V, Nguyen A, Dustin ML, Kanagawa O, Miner JH, Shaw AS (1999) Congenital nephrotic syndrome in mice lacking CD2-associated protein. Science 286:312-315
81. Mukerji N, Damodaran TV, Winn MP (2007) TRPC6 and FSGS: the latest TRP channelopathy. Biochim Biophys Acta 1772:859-868
82. Winn MP, Conlon PJ, Lynn KL, Farrington MK, Creazzo T, Hawkins AF, Daskalakis N, Kwan SY, Ebersviller S, Burchette JL, Pericak-Vance MA, Howell DN, Vance JM, Rosenberg PB (2005) A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science 308:1801-1804
83. Chernin G, Vega-Warner V, Schoeb DS, Heeringa SF, Ovunc B, Saisawat P, Cleper R, Ozaltin F, Hildebrandt F (2010) Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations. Clin J Am Soc Nephrol 5:1655-1662
84. Klamt B, Koziell A, Poulat F, Wieacker P, Scambler P, Berta P, Gessler M (1998) Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. Hum Mol Genet 7:709-714
85. Ruf RG, Lichtenberger A, Karle SM, Haas JP, Anacleto FE, Schultheiss M, Zalewski I, Imm A, Ruf EM, Mucha B, Bagga A, Neuhaus T, Fuchshuber A, Bakkaloglu A, Hildebrandt F (2004) Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol 15:722-732
86. Buscher AK, Kranz B, Buscher R, Hildebrandt F, Dworniczak B, Pennekamp P, Kuwertz-Broking E, Wingen AM, John U, Kemper M, Monnens L, Hoyer PF, Weber S, Konrad M (2010) Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 5:2075-2084
87. Lehnhardt A, Lama A, Amann K, Matejas V, Zenker M, Kemper MJ (2012) Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR. Pediatr Nephrol 27:865-868
88. Matejas V, Hinkes B, Alkandari F, Al-Gazali L, Annexstad E, Aytac MB, Barrow M, Blahova K, Bockenhauer D, Cheong HI, Maruniak-Chudek I, Cochat P, Dotsch J, Gajjar P, Hennekam RC, Janssen F, Kagan M, Kariminejad A, Kemper MJ, Koenig J, Kogan J, Kroes HY, Kuwertz-Broking E, Lewanda AF, Medeira A, Muscheites J, Niaudet P, Pierson M, Saggar A, Seaver L, Suri M, Tsygin A, Wuhl E, Zurowska A, Uebe S, Hildebrandt F, Antignac C, Zenker M (2010) Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat 31:992-1002
89. Fakhouri F, Fremeaux-Bacchi V, Noel LH, Cook HT, Pickering MC (2010) C3 glomerulopathy: a new classification. Nat Rev Nephrol 6:494-499
90. Sethi S, Nester CM, Smith RJ (2012) Membranoproliferative glomerulonephritis and C3 glomerulopathy: resolving the confusion. Kidney Int 81:434-441
91. Smith RJ, Harris CL, Pickering MC (2011) Dense deposit disease. Mol Immunol 48:1604-1610
92. Sethi S, Fervenza FC, Zhang Y, Nasr SH, Leung N, Vrana J, Cramer C, Nester CM, Smith RJ (2011) Proliferative glomerulonephritis secondary to dysfunction of the alternative pathway of complement. Clin J Am Soc Nephrol 6:1009-1017
93. Geerdink LM, Westra D, van Wijk JA, Dorresteijn EM, Lilien MR, Davin JC, Komhoff M, Van Hoeck K, van der Vlugt A, van den Heuvel LP, van de Kar NC (2012) Atypical hemolytic uremic syndrome in children: complement mutations and clinical characteristics. Pediatr Nephrol 27:1283-1291
94. Beck LH Jr, Bonegio RG, Lambeau G, Beck DM, Powell DW, Cummins TD, Klein JB, Salant DJ (2009) M-type phospholipase A2 receptor as target antigen in idiopathic membranous nephropathy. N Engl J Med 361:11-21
95. Beck LH Jr, Salant DJ (2010) Membranous nephropathy: recent travels and new roads ahead. Kidney Int 77:765-770
96. Hurd TW, Hildebrandt F (2011) Mechanisms of nephronophthisis and related ciliopathies. Nephron Exp Nephrol 118:e9-e14
97. Hildebrandt F, Attanasio M, Otto E (2009) Nephronophthisis: disease Mechanisms of a ciliopathy. J Am Soc Nephrol 20:23-35
98. Wolf MT, Hildebrandt F (2011) Nephronophthisis. Pediatr Nephrol 26:181-194
99. Bollee G, Dahan K, Flamant M, Moriniere V, Pawtowski A, Heidet L, Lacombe D, Devuyst O, Pirson Y, Antignac C, Knebelmann B (2011) Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations. Clin J Am Soc Nephrol 6:2429-2438
100. Weber S (2012) Novel genetic aspects of congenital anomalies of kidney and urinary tract. Curr Opin Pediatr 24:212-218
101. Deltas C, Papagregoriou G (2010) Cystic diseases of the kidney: molecular biology and genetics. Arch Pathol Lab Med 134:569-582
102. Grantham JJ (2008) Clinical practice. Autosomal dominant polycystic kidney disease. N Engl J Med 359:1477-1485
103. Denamur E, Delezoide AL, Alberti C, Bourillon A, Gubler MC, Bouvier R, Pascaud O, Elion J, Grandchamp B, Michel-Calemard L, Missy P, Zaccaria I, Le Nagard H, Gerard B, Loirat C, Barbet J, Beaufrere AM, Berchel C, Bessieres B, Boudjemaa S, Buenerd A, Carles D, Clemenson A, Dechelotte P, Devisme L, Dijoud F, Esperandieu O, Fallet C, Gonzales M, Hillion Y, Jacob B, Joubert M, Kermanach P, Lallemand A, Laquerriere A, Laurent N, Liprandi A, Loeuillet L, Loget P, Martinovic J, Menez F, Narcy F, Roux JJ, Rouleau-Dubois C, Sinico M, Tantau J, Wann AR (2010) Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. Kidney Int 77:350-358
104. Gunay-Aygun M, Avner ED, Bacallao RL, Choyke PL, Flynn JT, Germino GG, Guay-Woodford L, Harris P, Heller T, Ingelfinger J, Kaskel F, Kleta R, LaRusso NF, Mohan P, Pazour GJ, Shneider BL, Torres VE, Wilson P, Zak C, Zhou J, Gahl WA (2006) Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference. J Pediatr 149:159-164
105. Castelletti F, Donadelli R, Banterla F, Hildebrandt F, Zipfel PF, Bresin E, Otto E, Skerka C, Renieri A, Todeschini M, Caprioli J, Caruso RM, Artuso R, Remuzzi G, Noris M (2008) Mutations in FN1 cause glomerulopathy with fibronectin deposits. Proc Natl Acad Sci USA 105:2538-2543
106. Gemperle O, Neuweiler J, Reutter FW, Hildebrandt F, Krapf R (1996) Familial glomerulopathy with giant fibrillar (fibronectin-positive) deposits: 15-year follow-up in a large kindred. Am J Kidney Dis 28:668-675
107. Roberts IS, Gleadle JM (2008) Familial nephropathy and multiple exostoses with exostosin-1 (EXT1) gene mutation. J Am Soc Nephrol 19:450-453
108. Danpure CJ (2004) Molecular aetiology of primary hyperoxaluria type 1. Nephron Exp Nephrol 98:e39-e44
109. Milliner DS, Wilson DM, Smith LH (2001) Phenotypic expression of primary hyperoxaluria: comparative features of types I and II. Kidney Int 59:31-36
110. Christiansen RE, Fiskerstrand T, Leh S, Haukanes BI, Singh AK, Fervenza FC, Svarstad E (2011) A mother and daughter with unexplained renal failure. Nephron Clin Pract 119:c1-c9