Inherited monogenic kidney stone diseases: Recent diagnostic and therapeutic advances;Lithiases rénales héréditaires monogéniques : récents acquis diagnostiques et thérapeutiques

Nephrologie et Therapeutique

Volumn 4, Issue 4, 2008, Pages 231-255

  Jungers, Paul ^a   Joly, Dominique ^a   Blanchard, Anne ^b   Courbebaisse, Marie ^a   Knebelmann, Bertrand ^a   Daudon, Michel ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

Author keywords

Calcium stones; Cystinuria; Enzymopathies; Monogenic diseases; Nephrocalcinosis; Nephrolithiasis; Phosphate renal leak; Primary hyperoxalurias; Purines; Tubulopathies

Indexed keywords

AMINO ACID; CALCIUM; MAGNESIUM; PHOSPHATE; PURINE DERIVATIVE;

BARTTER SYNDROME; BLOOD CHEMISTRY; CLINICAL FEATURE; DIAGNOSTIC TEST; DISEASE ASSOCIATION; GENOTYPE; HUMAN; HYPEROXALURIA; HYPERURICEMIA; HYPOPHOSPHATEMIC RICKETS; INCIDENCE; INTERSTITIAL NEPHRITIS; KIDNEY CALCIFICATION; KIDNEY TUBULE ACIDOSIS; LOWE SYNDROME; MONOGENIC DISORDER; NEPHROLITHIASIS; PHENOTYPE; SHORT SURVEY; URINALYSIS;

HUMANS; HYPEROXALURIA; INCIDENCE; KIDNEY CALCULI; KIDNEY TUBULES; METABOLISM, INBORN ERRORS; OXALIC ACID;

EID: 45849133072     PISSN: 17697255     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nephro.2007.12.005     Document Type: Short Survey

References (190)

1. Gambaro G., Favaro S., and D'Angelo A. Risk for renal failure in nephrolithiasis. Am J Kidney Dis 37 (2001) 233-243
2. Jungers P., Joly D., Barbey F., Choukroun G., and Daudon M. ESRD caused by nephrolithiasis: prevalence, mechanisms, and prevention. Am J Kidney Dis 44 (2004) 799-805
3. Gubler M.C., and Antignac C. Néphropathies héréditaires : de la lésion au gène. Actual Nephrol 33 (2003) 233-248
4. Chauveau D., Vanderperren D., Tricot L., Grünfeld J.P., Rémy P., Rabier D., et al. Manifestations rénales des maladies héréditaires du métabolisme chez l'adulte. Actual Nephrol 34 (2004) 119-142
5. Moe O.W., and Bonny O. Genetic hypercalciuria. J Am Soc Nephrol 16 (2005) 729-745
6. th international workshop on primary hyperoxalurie. Urol Res 2005;33:315-17.
7. Cochat P., Deloraine A., Rotily M., Olive F., Liponski I., Deries N., and Société de néphrologie et société de néphrologie pédiatrique. Epidemiology of primary hyperoxaluria type 1. Nephrol Dial Transplant 10 (1995) 3-7
8. Danpure C.J. Molecular aetiology of primary hyperoxaluria type 1. Nephron Exp Nephrol 98 (2004) e39-e44
9. e éd. (2001), McGraw-Hill, New York 3323-3370
10. Danpure C.J. Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways. Biochim Biophys Acta 1763 (2006) 1776-1784
11. Watts R.W., Veall N., and Purkiss P. Oxalate dynamics and removal rates during haemodialysis and peritoneal dialysis in patients with primary hyperoxaluria and severe renal failure. Clin Sci (Lond) 66 (1984) 591-597
12. Cochat P. Primary hyperoxaluria type 1. Kidney Int 55 (1999) 2533-2547
13. Leumann E., and Hoppe B. The primary hyperoxalurias. J Am Soc Nephrol 12 (2001) 1986-1993
14. Daudon M., Estepa L., Lacour B., and Jungers P. Unusual morphology of calcium oxalate calculi in primary hyperoxaluria. J Nephrol 11 Suppl. 1 (1998) 51-55
15. Milliner D.S., Eickholt J.T., Bergstralh E.J., Wilson D.M., and Smith L.H. Results of long-term treatment with orthophosphate and pyridoxine in patients with primary hyperoxaluria. N Engl J Med 331 (1994) 1553-1558
16. Beck B.B., and Hoppe B. Is there a genotype-phenotype correlation in primary hyperoxaluria type 1?. Kidney Int 70 (2006) 984-986
17. Scheinman J.I. Primary hyperoxaluria: therapeutic strategies for the 90s. Kidney Int 40 (1991) 389-399
18. Marangella M. Transplantation strategies in type 1 primary hyperoxaluria: the issue of pyridoxine responsiveness. Nephrol Dial Transplant 14 (1999) 301-303
19. Cochat P., and Basmaison O. Current approaches to the management of primary hyperoxaluria. Arch Dis Child 82 (2000) 470-473
20. Hoppe B., and Leumann E. Diagnostic and therapeutic strategies in hyperoxaluria: a plea for early intervention. Nephrol Dial Transplant 19 (2004) 39-42
21. Marangella M., Petrarulo M., Cosseddu D., Vitale C., and Linari F. Oxalate balance studies in patients on hemodialysis for type I primary hyperoxaluria. Am J Kidney Dis 19 (1992) 546-553
22. Hoppe B., Kemper M.J., Bokenkamp A., Portale A.A., Cohn R.A., and Langman C.B. Plasma calcium oxalate supersaturation in children with primary hyperoxaluria and end-stage renal failure. Kidney Int 56 (1999) 268-274
23. Franssen C.F. Oxalate clearance by haemodialysis - a comparison of seven dialysers. Nephrol Dial Transplant 20 (2005) 1916-1921
24. Yamauchi T., Quillard M., Takahashi S., and Nguyen-Khoa M. Oxalate removal by daily dialysis in a patient with primary hyperoxaluria type 1. Nephrol Dial Transplant 16 (2001) 2407-2411
25. Marangella M., Vitale C., Petrarulo M., et al. Bony content of oxalate in patients with primary hyperoxaluria or oxalosis-unrelated renal failure. Kidney Int 48 (1995) 182-187
26. Broyer M., Brunner F.P., Brynger H., et al. Kidney transplantation in primary oxalosis: data from the EDTA registry. Nephrol Dial Transplant 5 (1990) 332-336
27. Cibrik D.M., Kaplan B., Arndorfer J.A., and Meier-Kriesche H.U. Renal allograft survival in patients with oxalosis. Transplantation 74 (2002) 707-710
28. Thervet E., Legendre C., Daudon M., et al. Is there a place for isolated renal transplantation in the treatment of primary hyperoxaluria type 1? Experience from Paris. Nephrol Dial Transplant 10 Suppl. 8 (1995) 38-41
29. Watts R.W., Calne R.Y., Williams R., et al. Primary hyperoxaluria (type I): attempted treatment by combined hepatic and renal transplantation. Q J Med 57 (1985) 697-703
30. Millan M.T., Berquist W.E., So S.K., et al. One hundred percent patient and kidney allograft survival with simultaneous liver and kidney transplantation in infants with primary hyperoxaluria: a single-center experience. Transplantation 76 (2003) 1458-1463
31. Cochat P., and Scharer K. Should liver transplantation be performed before advanced renal insufficiency in primary hyperoxaluria type 1?. Pediatr Nephrol 7 (1993) 212-218 discussion 218-9
32. Ellis S.R., Hulton S.A., McKiernan P.J., de Ville de Goyet J., and Kelly D.A. Combined liver-kidney transplantation for primary hyperoxaluria type 1 in young children. Nephrol Dial Transplant 16 (2001) 348-354
33. Kemper M.J. The role of preemptive liver transplantation in primary hyperoxaluria type 1. Urol Res 33 (2005) 376-379
34. Farese S., Trost N., Candinas D., and Huynh-Do U. Early renal failure after domino hepatic transplantation using the liver from a compound heterozygous patient with primary hyperoxaluria. Nephrol Dial Transplant 20 (2005) 2557-2560
35. Franchello A., Paraluppi G., Romagnoli R., et al. Severe course of primary hyperoxaluria and renal failure after domino hepatic transplantation. Am J Transplant 5 (2005) 2324-2327
36. Jouvet P., Priqueler L., Gagnadoux M.F., et al. Crystalluria: a clinically useful investigation in children with primary hyperoxaluria post-transplantation. Kidney Int 53 (1998) 1412-1416
37. Basmaison O., Liutkus A., Michel L., Cordier M.P., and Cochat P. Néphropathies héréditaires et diagnostic anténatal génétique. Arch Pediatr 13 (2006) 727-729
38. Cramer S.D., Ferree P.M., Lin K., Milliner D.S., and Holmes R.P. The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II. Hum Mol Genet 8 (1999) 2063-2069
39. Marangella M., Petrarulo M., Cosseddu D., et al. Detection of primary hyperoxaluria type 2 (L-glyceric aciduria) in patients with maintained renal function or end-stage renal failure. Nephrol Dial Transplant 10 (1995) 1381-1385
40. Rumsby G., Sharma A., Cregeen D.P., and Solomon L.R. Primary hyperoxaluria type 2 without L-glycericaciduria: is the disease under-diagnosed?. Nephrol Dial Transplant 16 (2001) 1697-1699
41. Cregeen D.P., and Rumsby G. Recent developments in our understanding of primary hyperoxaluria type 2. J Am Soc Nephrol 10 Suppl. 14 (1999) S348-S350
42. Knight J., Holmes R.P., Milliner D.S., Monico C.G., and Cramer S.D. Glyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2. Nephrol Dial Transplant 21 (2006) 2292-2295
43. Rumsby G. Is liver analysis still required for the diagnosis of primary hyperoxaluria type 2?. Nephrol Dial Transplant 21 (2006) 2063-2064
44. Milliner D.S., Wilson D.M., and Smith L.H. Clinical expression and long-term outcomes of primary hyperoxaluria types 1 and 2. J Nephrol 11 Suppl. 1 (1998) 56-59
45. Mansell M.A. Primary hyperoxaluria type 2. Nephrol Dial Transplant 10 Suppl. 8 (1995) 58-60
46. Kemper M.J., Conrad S., and Muller-Wiefel D.E. Primary hyperoxaluria type 2. Eur J Pediatr 156 (1997) 509-512
47. Hoppe B., and Langman C.B. A United States survey on diagnosis, treatment, and outcome of primary hyperoxaluria. Pediatr Nephrol 18 (2003) 986-991
48. Wichmann G., Passauer J., Fischer R., Weise M., and Gross P. A young patient with end-stage renal disease, dyspnoea, weakness, peripheral neuropathy and an unsuspected underlying disease. Nephrol Dial Transplant 18 (2003) 1670-1672
49. Schulze M.R., Wachter R., Schmeisser A., Fischer R., and Strasser R.H. Restrictive cardiomyopathy in a patient with primary hyperoxaluria type II. Clin Res Cardiol 95 (2006) 235-240
50. Marangella M., Petrarulo M., and Cosseddu D. End-stage renal failure in primary hyperoxaluria type 2. N Engl J Med 330 (1994) 1690
51. Leumann E., Hoppe B., and Neuhaus T. Management of primary hyperoxaluria: efficacy of oral citrate administration. Pediatr Nephrol 7 (1993) 207-211
52. Monico C.G., Rossetti S., Schwanz H.A., et al. Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis. J Am Soc Nephrol 18 (2007) 1905-1914
53. Rumsby G., Williams E., and Coulter-Mackie M. Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. Kidney Int 66 (2004) 959-963
54. Amoroso A., Pirulli D., Florian F., et al. AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria. J Am Soc Nephrol 12 (2001) 2072-2079
55. Monico C.G., Rossetti S., Olson J.B., and Milliner D.S. Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele. Kidney Int 67 (2005) 1704-1709
56. Danpure C.J. Advances in the enzymology and molecular genetics of primary hyperoxaluria type 1. Prospects for gene therapy. Nephrol Dial Transplant 10 Suppl. 8 (1995) 24-29
57. Danpure C.J. Primary hyperoxaluria: from gene defects to designer drugs?. Nephrol Dial Transplant 20 (2005) 1525-1529
58. Santana A., Salido E., Torres A., and Shapiro L.J. Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine: glyoxylate aminotransferase. Proc Natl Acad Sci USA 100 (2003) 7277-7282
59. Chetyrkin S.V., Kim D., Belmont J.M., Scheinman J.I., Hudson B.G., and Voziyan P.A. Pyridoxamine lowers kidney crystals in experimental hyperoxaluria: a potential therapy for primary hyperoxaluria. Kidney Int 67 (2005) 53-60
60. Hoppe B., Beck B., Gatter N., et al. Oxalobacter formigenes: a potential tool for the treatment of primary hyperoxaluria type 1. Kidney Int 70 (2006) 1305-1311
61. Gambaro G., Vezzoli G., Casari G., Rampoldi L., D'Angelo A., and Borghi L. Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms. Am J Kidney Dis 44 (2004) 963-986
62. Wrong O.M., Norden A.G., and Feest T.G. Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. Q J Med 87 (1994) 473-493
63. Frymoyer P.A., Scheinman S.J., Dunham P.B., Jones D.B., Hueber P., and Schroeder E.T. X-linked recessive nephrolithiasis with renal failure. N Engl J Med 325 (1991) 681-686
64. Scheinman S.J. X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int 53 (1998) 3-17
65. Bolino A., Devoto M., Enia G., Zoccali C., Weissenbach J., and Romeo G. Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets. Eur J Hum Genet 1 (1993) 269-279
66. Igarashi T., Hayakawa H., Shiraga H., et al. Hypercalciuria and nephrocalcinosis in patients with idiopathic low-molecular-weight proteinuria in Japan: is the disease identical to Dent's disease in United Kingdom?. Nephron 69 (1995) 242-247
67. Dent C.E., and Friedman M. Hypercalcuric rickets associated with renal tubular damage. Arch Dis Child 39 (1964) 240-249
68. Joly D., Jungers P., Grünfeld J.P., and Chauveau D. Maladie de Dent ou néphropathie liée aux mutations du gène CLCN5 : une nouvelle entité. Ann Pediatr (Paris) 46 (1999) 120-125
69. Scheinman S.J., Guay-Woodford L.M., Thakker R.V., and Warnock D.G. Genetic disorders of renal electrolyte transport. N Engl J Med 340 (1999) 1177-1187
70. Scheinman S.J., Pook M.A., Wooding C., Pang J.T., Frymoyer P.A., and Thakker R.V. Mapping the gene causing X-linked recessive nephrolithiasis to Xp 11.22 by linkage studies. J Clin Invest 91 (1993) 2351-2357
71. Devuyst O., Christie P.T., Courtoy P.J., Beauwens R., and Thakker R.V. Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease. Hum Mol Genet 8 (1999) 247-257
72. Thakker R.V. Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis. Kidney Int 57 (2000) 787-793
73. Vandewalle A. Fonction des canaux chlorures de la famille CLC et leur implication en pathologie humaine. Nephrologie 23 (2002) 113-118
74. Moulin P., Igarashi T., Van der Smissen P., et al. Altered polarity and expression of H±ATPase without ultrastructural changes in kidneys of Dent's disease patients. Kidney Int 63 (2003) 1285-1295
75. Piwon N., Gunther W., Schwake M., Bosl M.R., and Jentsch T.J. ClC-5 Cl- - channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature 408 (2000) 369-373
76. Jouret F., Courtois P.J., and Devuyst O. Lithiase rénale et tubulopathie complexe : le paradigme de la maladie de Dent. Actual Nephrol 36 (2006) 105-117
77. Silva I.V., Cebotaru V., Wang H., et al. The ClC-5 knockout mouse model of Dent's disease has renal hypercalciuria and increased bone turnover. J Bone Miner Res 18 (2003) 615-623
78. Kumar R. CLC-5 chloride channels and renal disease. Kidney Int 53 (1998) 228-229
79. Raja K.A., Schurman S., D'Mello R.G., et al. Responsiveness of hypercalciuria to thiazide in Dent's disease. J Am Soc Nephrol 13 (2002) 2938-2944
80. Guggino S.E. Mechanisms of disease: what can mouse models tell us about the molecular processes underlying Dent disease?. Nat Clin Pract Nephrol 3 (2007) 449-455
81. Cebotaru V., Kaul S., Devuyst O., et al. High citrate diet delays progression of renal insufficiency in the ClC-5 knockout mouse model of Dent's disease. Kidney Int 68 (2005) 642-652
82. Hoopes Jr. R.R., Raja K.M., Koich A., et al. Evidence for genetic heterogeneity in Dent's disease. Kidney Int 65 (2004) 1615-1620
83. Utsch B., Bokenkamp A., Benz M.R., et al. Novel OCRL1 mutations in patients with the phenotype of Dent disease. Am J Kidney Dis 48 (2006) 942e1-942e14
84. Sliman G.A., Winters W.D., Shaw D.W., and Avner E.D. Hypercalciuria and nephrocalcinosis in the oculocerebrorenal syndrome. J Urol 153 (1995) 1244-1246
85. Charnas L.R., Bernardini I., Rader D., Hoeg J.M., and Gahl W.A. Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. N Engl J Med 324 (1991) 1318-1325
86. Tricot L., Yahiaoui Y., Teixeira L., et al. End-stage renal failure in Lowe syndrome. Nephrol Dial Transplant 18 (2003) 1923-1925
87. Tenenhouse H.S., and Murer H. Disorders of renal tubular phosphate transport. J Am Soc Nephrol 14 (2003) 240-248
88. Prié D., Beck L., Silve C., and Friedlander G. Hypophosphatemia and calcium nephrolithiasis. Nephron Exp Nephrol 98 (2004) e50-e54
89. HYP Consortium. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet 1995; 11:130-6.
90. ADRH Consortium. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet 2000; 26:345-8.
91. Yamazaki Y., Okazaki R., Shibata M., Hasegawa Y., Satoh K., Tajima T., et al. Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia. J Clin Endocrinol Metab 87 (2002) 4957-4960
92. Jonsson K.B., Zahradnik R., Larsson T., et al. Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N Engl J Med 348 (2003) 1656-1663
93. Imel E.A., Hui S.L., and Econs M.J. FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets. J Bone Miner Res 22 (2007) 520-526
94. Bowe A.E., Finnegan R., Jan de Beur S.M., Cho J., Levine M.A., Kumar R., et al. FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate. Biochem Biophys Res Commun 284 (2001) 977-981
95. Liu S., Guo R., Simpson L.G., Xiao Z.S., Burnham C.E., and Quarles L.D. Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX. J Biol Chem 278 (2003) 37419-37426
96. White K.E., Carn G., Lorenz-Depiereux B., Benet-Pages A., Strom T.M., and Econs M.J. Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23. Kidney Int 60 (2001) 2079-2086
97. Bai X.Y., Miao D., Goltzman D., and Karaplis A.C. The autosomal dominant hypophosphatemic rickets R176Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological potency. J Biol Chem 278 (2003) 9843-9849
98. Verge C.F., Lam A., Simpson J.M., Cowell C.T., Howard N.J., and Silink M. Effects of therapy in X-linked hypophosphatemic rickets. N Engl J Med 325 (1991) 1843-1848
99. Kooh S.W., Binet A., and Daneman A. Nephrocalcinosis in X-linked hypophosphataemic rickets: relationship to treatment, kidney function, and growth. Clin Invest Med 17 (1994) 123-130
100. Tieder M., Modai D., Samuel R., et al. Hereditary hypophosphatemic rickets with hypercalciuria. N Engl J Med 312 (1985) 611-617
101. Bergwitz C., Roslin N.M., Tieder M., Loredo-Osti J.C., Bastepe M., Abu-Zahra H., et al. SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homoeostasis. Am J Hum Genet 78 (2006) 179-192
102. Lorenz-Depiereux B., Benet-Pages A., Eckstein G., Tenenbaum-Rakover Y., Wagenstaller J., Tiosano D., et al. Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J Hum Genet 78 (2006) 193-201
103. Ichikawa S., Sorenson A.H., Imel E.A., Friedman N.E., Gertner J.M., and Econs M.J. Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria. J Clin Endocrinol Metab 91 (2006) 4022-4027
104. Prié D., Huart V., Bakouh N., et al. Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. N Engl J Med 347 (2002) 983-991
105. Beck L., Karaplis A.C., Amizuka N., Hewson A.S., Ozawa H., and Tenenhouse H.S. Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. Proc Natl Acad Sci USA 95 (1998) 5372-5377
106. Chau H., El-Maadawy S., McKee M.D., and Tenenhouse H.S. Renal calcification in mice homozygous for the disrupted type IIa Na/Pi cotransporter gene Npt2. J Bone Miner Res 18 (2003) 644-657
107. Tenenhouse H.S., Gauthier C., Chau H., and St-Arnaud R. 1-alpha-hydroxyalse gene ablation and Pi supplementation inhibit renal calcification in mice homozygous for the disrupted Npt2a gene. Am J Physiol 286 (2004) F675-F681
108. Shenolikar S., Voltz J.W., Minkoff C.M., Wade J.B., and Weinman E.J. Targeted disruption of the mouse NHERF-1 gene promotes internalization of proximal tubule sodium-phosphate cotransporter type IIa and renal phosphate wasting. Proc Natl Acad Sci USA 99 (2002) 11470-11475
109. Cole D.E., and Quamme G.A. Inherited disorders of renal magnesium handling. J Am Soc Nephrol 11 (2000) 1937-1947
110. Montaigne D., Perimenis P., Douillard C., Wemeau J.L., and Vantyghem M.C. Les hypomagnésémies congénitales. Presse Med 33 (2004) 1341-1348
111. Praga M., Vara J., Gonzalez-Parra E., et al. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Kidney Int 47 (1995) 1419-1425
112. Blanchard A., Jeunemaitre X., Coudol P., et al. Paracellin-1 is critical for magnesium and calcium reabsorption in the human thick ascending limb of Henle. Kidney Int 59 (2001) 2206-2215
113. Simon D.B., Lu Y., Choate K.A., et al. Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Science 285 (1999) 103-106
114. Konrad M., and Weber S. Recent advances in molecular genetics of hereditary magnesium-losing disorders. J Am Soc Nephrol 14 (2003) 249-260
115. Weber S., Schneider L., Peters M., et al. Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol 12 (2001) 1872-1881
116. Hoenderop J.G., and Bindels R.J. Epithelial Ca2+ and Mg2+ channels in health and disease. J Am Soc Nephrol 16 (2005) 15-26
117. Konrad M., Schaller A., Seelow D., et al. Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. Am J Hum Genet 79 (2006) 949-957
118. Monnens L., Starremans P., and Bindels R. Great strides in the understanding of renal magnesium and calcium reabsorption. Nephrol Dial Transplant 15 (2000) 568-571
119. Simon D.B., Karet F.E., Hamdan J.M., DiPietro A., Sanjad S.A., and Lifton R.P. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 13 (1996) 183-188
120. Simon D.B., Karet F.E., Rodriguez-Soriano J., et al. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet 14 (1996) 152-156
121. Pearce S.H., Williamson C., Kifor O., et al. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med 335 (1996) 1115-1122
122. Thakker R.V. Disorders of the calcium-sensing receptor. Biochim Biophys Acta 1448 (1998) 166-170
123. Houillier P., and Paillard M. Calcium-sensing receptor and renal cation handling. Nephrol Dial Transplant 18 (2003) 2467-2470
124. Urena P. Glandes parathyroïdes, récepteur du calcium et calcimimétiques. Nephrologie 23 (2002) 151-164
125. Yamamoto M., Akatsu T., Nagase T., and Ogata E. Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: is it possible to differentiate the two disorders?. J Clin Endocrinol Metab 85 (2000) 4583-4591
126. Vargas-Poussou R., Huang C., Hulin P., et al. Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. J Am Soc Nephrol 13 (2002) 2259-2266
127. Lienhardt A., Bai M., Lagarde J.P., et al. Activating mutations of the calcium-sensing receptor: management of hypocalcemia. J Clin Endocrinol Metab 86 (2001) 5313-5323
128. Karet F.E. Inherited renal tubular acidosis. Adv Nephrol Necker Hosp 30 (2000) 147-162
129. Stehberger P.A., Shmukler B.E., Stuart-Tilley A.K., Peters L.L., Alper S.L., and Wagner C.A. Distal renal tubular acidosis in mice lacking the AE1 (band3) Cl-/HCO3-exchanger (slc4a1). J Am Soc Nephrol 18 (2007) 1408-1418
130. Caruana R.J., and Buckalew Jr. V.M. The syndrome of distal (type 1) renal tubular acidosis. Clinical and laboratory findings in 58 cases. Medicine (Baltimore) 67 (1988) 84-99
131. Cochat P., Jouvenet M., Pellet H., Feber J., Martin X., and Divry P. Les maladies héréditaires responsables de lithiase rénale. Rev Prat 47 (1997) 1554-1558
132. Karet F.E., Gainza F.J., Gyory A.Z., et al. Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. Proc Natl Acad Sci USA 95 (1998) 6337-6342
133. Devonald M.A., Smith A.N., Poon J.P., Ihrke G., and Karet F.E. Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis. Nat Genet 33 (2003) 125-127
134. Khositseth S., Sirikanerat A., Wongbenjarat K., Opastiraku S., Khoprasert S., Peuksungnern R., et al. Distal renal tubular acidosis associated with anion exchanger 1 mutations in children in Thailand. Am J Kidney Dis 49 (2007) 841-850 e1
135. Karet F.E., Finberg K.E., Nelson R.D., et al. Mutations in the gene encoding B1 subunit of H±ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 21 (1999) 84-90
136. Smith A.N., Skaug J., Choate K.A., et al. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet 26 (2000) 71-75
137. Vargas-Poussou R., Houillier P., Le Pottier N., et al. Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. J Am Soc Nephrol 17 (2006) 1437-1443
138. Nyhan W.L. Disorders of purine and pyrimidine metabolism. Mol Genet Metab 86 (2005) 25-33
139. e éd. (2001), McGraw-Hill, New York 2537-2570
140. Jungers P., Daudon M., and Conort P. Lithiase urinaire (1989), Flammarion Médecine Sciences, Paris 590 pages
141. Cameron J.S., Moro F., and Simmonds H.A. Gout, uric acid and purine metabolism in paediatric nephrology. Pediatr Nephrol 7 (1993) 105-118
142. Pirson Y., Loute G., Cosyns J.P., Dahan K., and Verellen C. Autosomal-dominant chronic interstitial nephritis with early hyperuricemia. Adv Nephrol Necker Hosp 30 (2000) 357-369
143. Dahan K., Fuchshuber A., Adamis S., et al. Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease?. J Am Soc Nephrol 12 (2001) 2348-2357
144. Hart T.C., Gorry M.C., Hart P.S., et al. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 39 (2002) 882-892
145. Scolari F., Caridi G., Rampoldi L., et al. Uromodulin storage diseases: clinical aspects and mechanisms. Am J Kidney Dis 44 (2004) 987-999
146. 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 14 (2003) 2883-2893
147. Cartier P., Hamet M., and Hamburger J. Une nouvelle maladie métabolique : le deficit complet en adénine phosphoribosyltransférase avec lithiase de 2,8-dihydroxyadénine. C R Acad Sci Hebd Seances Acad Sci D 279 (1974) 883-886
148. e éd. (2001), McGraw-Hill, New York 2571-2584
149. Ceballos-Picot I., Perignon J.L., Hamet M., Daudon M., and Kamoun P. 2,8-dihydroxyadenine urolithiasis, an underdiagnosed disease. Lancet 339 (1992) 1050-1051
150. Simmonds H., Van Acker K.J., and Sahota A.S. 2,8-dihydroxyadenine urolithiasis. Lancet 339 (1992) 1295-1296
151. Fye K.H., Sahota A., Hancock D.C., et al. Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure. Arch Intern Med 153 (1993) 767-770
152. Glicklich D., Gruber H.E., Matas A.J., et al. 2,8-dihydroxyadenine urolithiasis: report of a case first diagnosed after renal transplant. Q J Med 68 (1988) 785-793
153. Gagné E.R., Deland E., Daudon M., Noël L.H., and Nawar T. Chronic renal failure secondary to 2,8-dihydroxyadenine deposition: the first report of recurrence in a kidney transplant. Am J Kidney Dis 24 (1994) 104-107
154. de Jong D.J., Assmann K.J., De Abreu R.A., et al. 2,8-dihydroxyadenine stone formation in a renal transplant recipient due to adenine phosphoribosyltransferase deficiency. J Urol 156 (1996) 1754-1755
155. Cassidy M.J., McCulloch T., Fairbanks L.D., and Simmonds H.A. Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient. Nephrol Dial Transplant 19 (2004) 736-738
156. Brown H.A. Recurrence of 2,8-dihydroxyadenine tubulointerstitial lesions in a kidney transplant recipient with a primary presentation of chronic renal failure. Nephrol Dial Transplant 13 (1998) 998-1000
157. Eller P., Rosenkranz A.R., Mark W., Theurl I., Laufer J., and Lhotta K. Four consecutive renal transplantations in a patient with adenine phosphoribosyltransferase deficiency. Clin Nephrol 61 (2004) 217-221
158. Edvardsson V., Palsson R., Olafsson I., Hjaltadottir G., and Laxdal T. Clinical features and genotype of adenine phosphoribosyltransferase deficiency in Iceland. Am J Kidney Dis 38 (2001) 473-480
159. Hoffmann M., Talaszka A., Bocquet J.P., Le Monies de Sagazan H., and Daudon M. Insuffisance rénale aiguë et 2,8-dihydroxyadéninurie. Nephrologie 25 (2004) 297-300
160. Ichida K., Amaya Y., Kamatani N., Nishino T., Hosoya T., and Sakai O. Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. J Clin Invest 99 (1997) 2391-2397
161. Levartovsky D., Lagziel A., Sperling O., et al. XDH gene mutation is the underlying cause of classical xanthinuria: a second report. Kidney Int 57 (2000) 2215-2220
162. e éd. (2001), McGraw-Hill, New York 2639-2652
163. Bordier L., Blanchard A., Sarret D., Herody M., Nedelec G., and Duvic C. Hypo-uricémie, un vieux sujet et de nouveaux concepts. Presse Med 33 (2004) 555-563
164. Serre-Debeauvais F., Bayle F., Amirou M., Bechtel Y., Boujet C., Vialtel P., et al. Hématotoxicité de l'azathioprine à déterminisme génétique aggravée par un déficit en xanthine oxydase chez une transplantée rénale. Presse Med 24 (1995) 987-988
165. Yeun J.Y., and Hasbargen J.A. Renal hypouricemia: prevention of exercise-induced acute renal failure and a review of the literature. Am J Kidney Dis 25 (1995) 937-946
166. Enomoto A., Kimura H., Chairoungdua A., et al. Molecular identification of a renal urate anion exchanger that regulates blood urate levels. Nature 417 (2002) 447-452
167. Uribarri J., and Oh M.S. Renal hypouricemia and absorptive hypercalciuria: a real syndrome. Nephron 63 (1993) 172-175
168. Suchi M., Mizuno H., Kawai Y., et al. Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families. Am J Hum Genet 60 (1997) 525-539
169. e éd. (2001), McGraw-Hill, New York 2663-2704
170. e éd. (2001), McGraw-Hill, New York 4909-4932
171. Goodyer P. The molecular basis of cystinuria. Nephron Exp Nephrol 98 (2004) e45-e49
172. Calonge M.J., Volpini V., Bisceglia L., et al. Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria. Proc Natl Acad Sci USA 92 (1995) 9667-9671
173. Dello Strologo L., Pras E., Pontesilli C., et al. Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. J Am Soc Nephrol 13 (2002) 2547-2553
174. Boutros M., Vicanek C., Rozen R., and Goodyer P. Transient neonatal cystinuria. Kidney Int 67 (2005) 443-448
175. Bouzidi H., and Daudon M. Cystinurie : du diagnostic à la surveillance thérapeutique. Ann Biol Clin 65 (2007) 473-481
176. Lindell A., Denneberg T., and Granerus G. Studies on renal function in patients with cystinuria. Nephron 77 (1997) 76-85
177. Assimos D.G., Leslie S.W., Ng C., Streem S.B., and Hart L.J. The impact of cystinuria on renal function. J Urol 168 (2002) 27-30
178. Barbey F., Joly D., Rieu P., Mejean A., Daudon M., and Jungers P. Medical treatment of cystinuria: critical reappraisal of long-term results. J Urol 163 (2000) 1419-1423
179. Lindell A., Denneberg T., Hellgren E., Jeppsson J.O., and Tiselius H.G. Clinical course and cystine stone formation during tiopronin treatment. Urol Res 23 (1995) 111-117
180. Joly D., Rieu P., Mejean A., Gagnadoux M.F., Daudon M., and Jungers P. Treatment of cystinuria. Pediatr Nephrol 13 (1999) 945-950
181. Barbey F., Joly D., Rieu P., N'Guessau K., Daudon M., and Jungers P. Traitement médical de la cystinurie : évaluation des résultats à long terme chez 30 patients. Presse Med 29 (2000) 528-532
182. Pietrow P.K., Auge B.K., Weizer A.Z., et al. Durability of the medical management of cystinuria. J Urol 169 (2003) 68-70
183. Daudon M., Cohen-Solal F., Barbey F., Gagnadoux M.F., Knebelmann B., and Jungers P. Cystine crystal volume determination: a useful tool in the management of cystinuric patients. Urol Res 31 (2003) 207-211
184. Matthews L.A., Doershuk C.F., Stern R.C., and Resnick M.I. Urolithiasis and cystic fibrosis. J Urol 155 (1996) 1563-1564
185. Sidhu H., Hoppe B., Hesse A., et al. Absence of oxalobacter formigenes in cystic fibrosis patients: a risk factor for hyperoxaluria. Lancet 352 (1998) 1026-1029
186. Grunfeld J.P., and Joly D. Maladies rénales héréditaires chez l'adulte. Rev Prat 47 (1997) 1566-1569
187. Daudon M., and Jungers P. Clinical value of crystalluria and quantitative morphoconstitutional analysis of urinary calculi. Nephron Physiol 98 (2004) p31-p36
188. Daudon M., Jungers P., and Lacour B. Intérêt clinique de l'étude de la cristallurie. Ann Biol Clin (Paris) 62 (2004) 379-393
189. Estepa-Maurice L., Hennequin C., Marfisi C., Bader C., Lacour B., and Daudon M. Fourier transform infrared microscopy identification of crystal deposits in tissues: clinical importance in various pathologies. Am J Clin Pathol 105 (1996) 576-582
190. Jungers P., Joly D., Barbey F., Choukroun G., and Daudon M. Insuffisance rénale terminale d'origine lithiasique : fréquence, causes et prévention. Nephrol Ther 1 (2005) 301-310