An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: A literature review

Clinical Nephrology

Volumn 73, Issue 6, 2010, Pages 454-472

  Joosten, H ^a,c   Strunk, A L M ^a   Meijer, S ^a   Boers, J E ^b   Aries M J H ^c   Abbes, A P ^a   Engel, H ^a   Beukhof, J R ^a  

^a Department of Internal Medicine and Nephrology ^*  (Netherlands)

^b ISALA HOSPITAL   (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

Adenine phosphoribosyl transferase deficiency; Alport syndrome; Autosomal dominant medullary cystic disease; Autosomal dominant polycystic kidney disease; Chronic kidney failure; Cystinosis; End stage renal disease; Fabry disease; Familial juvenile hyperuricemic nephropathy; Genetics; Glomerulocystic disease; Glomerulopathy with fibronectin deposits; Hereditary nephritis; Lecithin cholesterol acyltransferase deficiency; Medullary cystic disease; Nail patella syndrome; Nephronophthisis; Nephropathies associated with uromodulin; Primary oxalosis; Renal cysts and diabetes syndrome

Indexed keywords

ALLOPURINOL; ALPHA GALACTOSIDASE; ANGIOTENSIN RECEPTOR ANTAGONIST; CYCLOPHOSPHAMIDE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; EVEROLIMUS; HEPATOCYTE NUCLEAR FACTOR 1BETA; LITHIUM; LOOP DIURETIC AGENT; MERCAPTAMINE; NONSTEROID ANTIINFLAMMATORY AGENT; OCTREOTIDE; OMEPRAZOLE; PYRIDOXINE; RAPAMYCIN; SEROTONIN UPTAKE INHIBITOR; TAMM HORSFALL GLYCOPROTEIN; THIAZIDE DIURETIC AGENT; TRICYCLIC ANTIDEPRESSANT AGENT; VASOPRESSIN RECEPTOR ANTAGONIST;

ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; ADULT; ALPORT SYNDROME; CHRONIC KIDNEY FAILURE; CYSTINOSIS; DIET RESTRICTION; DIFFERENTIAL DIAGNOSIS; FABRY DISEASE; GENE MUTATION; GENETIC DISORDER; GLOMERULOPATHY WITH FIBRONECTIN DEPOSIT; HUMAN; HYPEROXALURIA; HYPERTENSION; KIDNEY CYST; KIDNEY FAILURE; KIDNEY POLYCYSTIC DISEASE; KIDNEY TRANSPLANTATION; LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY; MEDULLARY SPONGE KIDNEY; NAIL PATELLA SYNDROME; NEPHRONOPHTHISIS; NONHUMAN; OXALOSIS; PATHOGENESIS; PRENATAL DIAGNOSIS; PROGNOSIS; PROTEINURIA; RENAL CYSTS AND DIABETES SYNDROME; REVIEW; URIC ACID NEPHROPATHY;

EID: 77952651189     PISSN: 03010430     EISSN: None     Source Type: Journal    
DOI: 10.5414/CNP73454     Document Type: Review

References (71)

1. Kasper LD, Braunwald E, Hauser S, Longo L, Jameson JL, Fauci AS. Harrison's. Principles of internal medicine. Edited by The McGraw-Hill Companies Inc, The United States: 16th edition, 2005.
2. Peters DJ, Paul LC. From gene to disease; from polycystines to polycystic kidney disease. Ned Tijdschr Geneesk. 2001; 145: 173-175.
3. Pei Y. Diagnostic approach in autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. 2006; 1: 1108-1114.
4. Greenberg A, Cheung AK, Coffman TM, Falk RJ, Jenette JC. Primer on kidney diseases. Edited by the Academic Press, San Diego, and National Kidney Foundation, 3rd edition January 2001.
5. Chapman AB. Autosomal dominant polycystic kidney disease: time for a change? J Am Soc Nephrol. 2007; 18: 1399-1407
6. Gabow PA. Autosomal dominant polycystic kidney disease. N Engl J Med. 1993; 329: 332-342.
7. Grünfeld JP, Chauveau D, Levy M. Anderson-Fabry disease: its place among other genetic causes of renal disease. J Am Soc Nephrol. 2002; 13 (Suppl): 126-129. (Pubitemid 34579222)
8. Heidet L, Gubler MC. The renal lesions of Alport syndrome. J Am Soc Nephrol. 2009; 20: 1210-1215.
9. De Charro F, Ramsteijn P. Renine, a relational registry. Nephrol DialTransplant. 1995; 10: 436-441.
10. Medelian Inheritance in Man. (OMIM http://www.ncib.nlm.nih.gov/omim/ searchomim.html).
11. Grantham JJ. Clinical practice. Autosomal dominant polycystic kidney disease. N Engl J Med. 2008; 359: 1477-1485.
12. Grünfeld JP. Congenital/inherited kidney disease: how to identify them early and how to manage them. Clin Exp Nephrol. 2005; 9: 192-194.
13. Ravine D, Gibson RN, Walker RG, Sheffield LJ, Kincaid-Smith P, Danks DM. Evaluation of ultrasonographic diagnostic criteria for ADPKD. Lancet. 1994; 343: 824-827.
14. Chow CL, Ong ACM. Autosomal dominant polycystic kidney disease. In: Barrat et al (eds.) Oxford Desk Reference Nephrology: Oxford, Oxford University Press; 2009. p. 590-596.
15. O'Sullivan DA, Torres VE, ADPKD. In: Freehally J, Floege J, Johnson RJ (eds.) Comprehensive Clinical Nephrology. Phildelphia. Mosby publ; 2007. p. 505-517.
16. Torres VE, Bankir L, Grantham JJ. Acase for water in the treatment of polycystic kidney disease. Clin J Am Soc Nephrol. 2009; 4: 1140-1150.
17. Jennings P, Aydin S, Kotanko P, Lechner J, Lhotta K, Williams S, Thakker RV, Pfaller W. Membane Targeting and Secretion of Mutant Uromodulin in Familial Juvenile Hyperuricemic Nephropathy. J Am Soc Nephrol. 2007; 18: 264-273. (Pubitemid 46053438)
18. Dahan K, Fuchshuber A, Adamis S, Smears M, Kroiss S, Loute G, Cosyns JP, Hildebrandt F, Verellen-Dumoulin C, Pirson Y. Familial juvenile hypericemic nephropathy and autosomal dominant medullary cystic kidney disease type 2; two facets of the same disease? Am Soc Nephrol. 2002; 12: 2348-2357.
19. Bollée G, Antignac C, Noël Lh, Knebelmann B. Népropathies tubulo-interstitielles héréditaires de l'adulte. In: Lesavre P et al (eds.) Actualités Néphrologiques. Paris: Flammarion Médecine-Sciences; 2009. p. 201-216
20. Kumar S. Mechanism of injury in uromoduline-associated kidney disease. J Am Soc Nephrol. 2007; 18: 10-12. (Pubitemid 46053416)
21. Dahan K, Devuyst O, Smaers M, Vertommen D, Loute G, Poux JM, Viron B, Jacquot C, Gagnadoux MF, Chauveau D, Buchler M, Cochat P, Cosyns JP, Mougenot B, Rider MH, Antignac C, Verellen-Dumoulin C, Pirson Y. ACluster Mutations in the UMOD Gene Causes Familial Juvenile Hyperuricemic Nephropathy of with Abnormal Expression of Uromodulin. J Am Soc Nephrol. 2003; 14: 2883-2893. (Pubitemid 37305651)
22. Hart TC,Gorry MC,Hart PS,Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juveline hyperuricaemic nephropathy. J Med Genet. 2002; 39: 882-892. (Pubitemid 36009149)
23. Kolatsi-Joannou M, Bingham C, Ellard S, Bulman MP, Allen LI, Hattersley AT,Woolf AS. Hepatocyte Nuclear Factor-1β: a new kindred with renal cysts and diabetes and gene expression in normal human development. J Am Soc Nephrol. 2001; 12: 2175-2180.
24. Bingham C, Hattersley AT. Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta. Nephrol Dial Transplant. 2004; 19: 2703-2708. (Pubitemid 39480961)
25. Edghill EL, Oram RA, Owens M, Sta KL, Harries LW, Hattersley AT, Ellard S, Bingham C. Hepatocyte nuclear factor-1beta gene deletions- a common cause of renal disease. Nephrol Dial Transplant. 2008; 23: 627-635. (Pubitemid 351767620)
26. Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, Hattersly AT. Mutations in Hepatocyte Nuclear Factor-1β gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet. 2001; 68: 219-224. (Pubitemid 32048377)
27. Adalat S,Woolf AS, Johnstone KA,Wirsing A, Harries Lw, Long DA, Hennekam RC, Ledermann SE, Rees L,van "t Hoff W, Marks SD, Trompeter RS, Tullus K, Winyard PJ, Cansick J, Mushtaq I, Dhillon HK, Bingham C, Edghill EL, Shroff R, Stanescu H, Ryffel GU, Ellard S, Bockenhauer D. HNF1B mutations associate with hypomagnesemia and renal magnesium waisting. J Am Soc Nephrol. 2009; 20: 1123-1131.
28. Igarashi P, Shao X, McNally BT, Hiesberger T. Roles of HNF-1β in kidney development and congenital cystic diseases. Kidney Int. 2005; 68: 1944-1947. (Pubitemid 43117767)
29. Gubler MC, Antignac C. Népropathies Héréditaires: de la lésion au gène. In: Lesavre Pet al (eds.) Actualités Néphrologiques. Paris: Flamarion médecine-sciences; 2003. p. 233-248
30. Granata A, Nori G, Ravazollo R, Marini M, Castellino S, Sicurezzab E, Fiore CE, Mignani R. Nail-patella syndrome and renal involvement. Description of hree cases and literature review. Clin nephrol. 2008; 69: 377-382.
31. Sweeney E, Fryer A Mountford R Green A, McIntosh I. Nail patella syndrome: a review of the phenotype aided by developmental biology. Journal of Medical Genetics. 2003; 40: 153-162. (Pubitemid 36315385)
32. Bongers EM, Knoers NV. From gene to disease; the mail-patella syndrome and the LMX1B-gene. Ned Tijdschr Geneeskd. 2003; 147: 67-69.
33. Witzgall R. How are podocytes affected in nail-patella syndrome? Pediatr Nephrol. 2008; 23: 1017-1020.
34. Castelli F, Donadelli R, Banterla F, Hildebrandt F, Zipfel PF, Bresin E, Otto E, Skerka C, Renieri A, Todeschini M, Caprioli J, Caruso MR, Artuso R, Remuzzi G, Noris M. Mutations in FN1 cause glomerulopathy with fibronectin deposits. PNAS. 2008; 105: 2538-2543.
35. Strom EH, Banfi G, Krapf R, Abt AB, Mazzucco G, Monga G, Gloor F, Neuweiler J, Riess R, Stosiek P, Hebert LA, Sedmak DD, Gudat F, Mithatsch M. Glomerulopathy associated with predominant fibronectin deposits: a newly recognized hereditary disease. Kidney Int. 1995; 48: 163-170.
36. Gemperle O, Neuweiler J, Reutter FW, Hildebrandt F, Krapf R. Familial glomerulopathy with giant fibrillar (fibronectin-positive) deposits: 15-year folow-up in a large kindred. Am J Kidney Dis. 1996; 28: 668-675. (Pubitemid 26363892)
37. Hildebrandt F, Strahm B, Prochoroff A, Cybula M, Gemperle O, Krapf R, Brandis M. Glomerulopathy associated with predominant fibronectin deposits; exclusion of the genes for fibronectin, villin and desmin as causative genes.AmJ Med Genet. 1996; 63: 323-327.
38. Assmann KJ, Koene RA, Wetzels JF. Familial glomerulonephritis characterized by massive deposits of fibronectin. Am J Kidney Dis. 1995; 25: 781-791.
39. Hildebrandt F, Zhou W. Nephronophthisis-associated ciliopathies. J Am Soc Nephrol. 2007; 18: 1855-1871.
40. Otto EA, Trapp ML, Schultheiss UT, Helou J, Quarmby LM, Hildebrandt F. NEK8 mutations affect ciliary and centrosomal localisation and may cause nehronophthisis. J Am Soc Nephrol. 2008; 19: 587-592. (Pubitemid 351355402)
41. Saunier S, Calado J, Heilig R, Silbermann F, Benessy F, Morin G, Konrad M, Broyer M, Gubler MC,Weissenbach J, Antignac C.Anovel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. Hum Mol Genet. 1997; 6: 2317-2323. (Pubitemid 27501085)
42. Saunier S, Salomon R, Antignac C. Nephronopthisis. Curr Opin Genet Dev. 2005; 15: 324-331.
43. Hildebrandt F, Otto E. Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? Nat Rev Genet. 2005; 6: 928-940.
44. Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C,Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A,Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Lerou MR, Hildebrandt F. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet. 2006; 38: 674-681. (Pubitemid 43927310)
45. Trapp ML, Galtseva A, Manning DK, Beier DR, Rosenblum ND, Quarmby LM. Defects in ciliary localisation of Nek8 is associated with cystogenesis. Pedriatr Nephrol. 2008; 23: 377-1287
46. Raju DL, Cantarovich M, Brisson ML, Tchervenkov J, Lipman ML. Primary hyperoxaluria: clinical course, diagnosis and treatment after kidney failure. Am J Kidney Dis. 2008; 51: 1-5. (Pubitemid 350296525)
47. Leumann E, Hoppe B. The primary hyperoxalurias. J Am Soc Nephrol. 2001; 12: 1986-1993.
48. Van Woerden CS, Groothof JW, Wanders RJ, Waterham HR, Wijburg FR. From gene to disease; primary hyperoxaluria type I caused by mutations in the AGXT gene. Ned Tijdschr Geneeskd. 2006; 150: 1669-1672.
49. Milliner DS. The primary oxalurias: an algorithm for diagnosis. Am J Nephrol. 2005; 25: 154-160.
50. Kemper MJ. Primary hyperoxaluria Type I and II. Der Nephrologe. 2008; 3: 118-127.
51. Mantel HT, Buis CI, van der Heide JJ et al. Combined liver and kidney transplantation: indications and results at the University Medical Centre Groningen, 1994-2005. Ned Tijdschr Geneeskd. 2006; 150: 2260-2265.
52. Simmonds HA. Adenine phosphoribosyltransferase deficiency. Orphanet Encyclopedia, July 2003. [http://www.orpha.net/data/patho/GB/uk-APRT.html]
53. Jimi S, Uesugi N, Saku K, Itabe H, Zhang B, Arakawa K, Takebayaski S. Possible induction of renal dysfunction in patients with lecithin - cholesterol acyltransferase deficiency by oxidized phosphatidylcholine in glomeruli. Arterioscler Thromb Vasc Biol. 1999; 19: 794-801. (Pubitemid 29135186)
54. KleinHG, Santamarina-Fojo S, Duverger N, Clerc M, Dumon MF, Albers JJ, Marcovina S, Brewer HB Jr. Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis. J Clin Invest. 1993; 92: 479-485. (Pubitemid 23209032)
55. Desnick RJ. Maladie de Fabry. manifestations cliniques et progrès récents dans la correction du déficit enzymatique. In: Lesavre P et al (eds.) Actualités Néphrologiques. Paris: Flamarion; 2001. p. 286-303.
56. Breuning F, Wanner C. Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy. J Nephrol. 2008; 21: 32-37. (Pubitemid 351780571)
57. Linthorst GE, Hollak CEM, Bosman DK, Heymans HS, Aerts JM. Fabry disease; towards a treatment. Ned Tijdschr Geneeskd. 2000; 144: 2391-2395.
58. Samiy N. Ocular features of Fabry disease: diagnosis of a treatable life-threatening disorder. Surv Ophthalmol. 2008; 53: 416-423 (Pubitemid 351842560)
59. Grünfeld JP, Lidove O, Joly D, Barbey F. Renal disease in Fabry patients. J Inherit Metab Dis. 2001; 24 (suppl): 71-74.
60. Mosnier JF, Degott C, Bedrossian J, Molas G, Degos F, Pruna A, Potet F. Recurrence of Fabry's disease in a renal allograft eleven years after successful renal transplantation. Transplantation. 1991; 51: 759-762.
61. Schwarting A, Dehout F, Feriozzi S, Beck M, Mehta A, Sunder-Plasmann G. Enzyme replacement therapy and renal function in 201 patients with fabry disease. Clin Nephrol. 2006; 66: 77-84. (Pubitemid 44219432)
62. West M, Nicholls K, Mehta A, Clarke JTR, Steiner R, Beck M, Narshop BA, Mensah R, Ries M, Schiffmann R. Agalsidase alfa and kidny dysfunction in Fabry disease. J Am Soc Nephrol. 2009; 20: 1132-1139.
63. Scott Thorner P. Alport syndrome and thin basement membrane nephropathy. Nephron Clin Pract. 2007; 106: 82-88.
64. Kashtantan CE. Alport syndrome: an inherited disorder of renal, ocular and cochlear basement membranes. Medicine. 1999; 78: 338-360.
65. Savige J, Colville D. Ocular features aid the diagnosis of Alport syndrome. Nat Rev Nephrol. 2009; 5: 356-360.
66. Gahl WA, Balog JZ, Kleta R. Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann Int Med. 2007; 147: 242-250 (Pubitemid 351664580)
67. Servais A, Moriniere V, Grünfeld JP, Noel LH et al. Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping. Clin J Am Soc Nephrol. 2008; 3: 27-35.
68. Theodoropoulos DS, Krasnewich D, Kaiser-Kupfer MI, Gahl WA. Classic nephropatic cystinosis as an adult disease. JAMA. 2007; 270: 2200-2204.
69. Miklovicova D, Cornelissen M, Cransberg K, Groothoff JW, Dedik L, Schröder CH. Etiology and epidemiology of end-stage renal disease in Dutch children 1987-2001. Pediatr Nephrol. 2005; 20: 1136-1142.
70. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999; 281: 249-254.
71. Van Woerden CS, Groothof JW, Wanders RJ, Davin JC, Wijburg FA. Primary oxaluria type I in the Netherlands, prevalence and outcome. Nephr dial transpl. 2003; 18: 237-279.