Renal Fanconi Syndrome, Dent's Disease and Bartter's Syndrome

Genetics of Bone Biology and Skeletal Disease

Volumn , Issue , 2013, Pages 553-567

  Devuyst, Olivier ^a   Igarashi, Takashi ^b  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b UNIVERSITY OF TOKYO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84884090779     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-387829-8.00034-2     Document Type: Chapter

References (89)

1. de Toni Remarks on the relations between renal and rickets (renal dwarfism) and renal diabetes. Acta Paediatr 1933, 16:479-484.
2. Debré R, Marie J, Cléret F, et al. Rachitisme tradif coexistant avec une néphrite chronique et une glycosurie. Arch Med Enf 1934, 37:597-606.
3. Fanconi G. Die nichit diabeteishen glykosurien und hyperglykamien des altern kinds. Jahrb Kinderheikld 193; 133: 257-300.
4. Norden AGW, Lapsley M, Christensen EI, Igarashi T, Matsuyama T, Shiraga H, et al. Urinary megalin deficiency implicates abnormal tubular endocytotic function in Fanconi syndrome. J Am Soc Nephrol 2002, 13:123-133.
5. Hsu SY, Tsai IJ, Tsau YK Comparison of growth in primary Fanconi syndrome and proximal renal tubular acidosis. Pediatr Nephrol 2005, 20:460-464.
6. Flyvbjerg A, Dørup I, Everts ME, Orskov H Evidence that potassium deficiency induces growth retardation through reduced circulating levels of growth hormone and insulin-like growth factor I. Metabolism 1991, 40:769-775.
7. Brünger M, Hutler HN, Krapf R Effect of chronic metabolic acidosis on the growth hormone/IGF-I endocrine axis: new cause of growth hormone insensitivity in humans. Kidney Int 1997, 51:216-221.
8. + exchanger NHE3 by parathyroid hormone via NHE3 phosphorylation and dynamin-dependent endocytosis. J Biol Chem 2000, 275:31601-31608.
9. Biber J, Herando N, Murer H Regulation of phosphate transport in proximal tubules. Pflugers Arch 2009, 458:39-52.
10. So A, Thorens B Uric acid transporter and disease. J Clin Invest 2010, 120:1791-1799.
11. Camergo SMR, Bockenhauer D, Lketa R Aminoaciduria: clinical and molecular aspects. Kidney Int 2008, 73:918-925.
12. Lee BH, Lee SH, Choi HJ, Kang HG, Oh SW, Lee DS, et al. Decreased renal uptake of 99mTc-DMSA in patients with tubular proteinuria. Pediatr Nephrol 2009, 24:2211-2216.
13. Drube J, Schiffer E, Mischak H, Kemper MJ, Neuhaus T, Pape L, et al. Urinary proteome pattern in children with renal fanconi syndrome. Nephrol Dial Transplant 2009, 24:2161-2169.
14. Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, et al. A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome. N Engl J Med 2010, 362:1102-1109.
15. Niaudet P, Rötig A The kidney in mitochondrial cytopathies. Kidney Int 1997, 51:1000-1007.
16. Lowe M Structure and function of Lowe syndrome protein. Traffic 2005, 6:711-719.
17. Hou X, Hagemann N, Schoebel S, Blankenfeldt W, Goody RS, Erdmann KS, et al. A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1. EMBO J 2011, PMID: 21378754.
18. +-driven lysosomal cystine transporter. EMBO J 2001, 20:5940-5949.
19. Sansanwal P, Yen B, Gahl WA, Ma Y, Ying L, Wong LJ, et al. Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis. J Am Soc Nephrol 2010, 21:272-283.
20. Chung MA Galactosemia in infancy: diagnosis, management, and prognosis. Pediatr Nurs 1997, 23:563-569.
21. Ali M, Rellos P, Cox TM Hereditary fructose intolerance. J Med Genet 1998, 35:353-365.
22. Chou JY, Matern D, Mansfield BC, Chen YT Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. Curr Mol Med 2002, 2:121-143.
23. Fanconi G, Bickel H Die chronishe aminoaidurie (aminosäurendiabetes oder nehrotishßglukosurisher zwergwuchs) bei der glykogenose und der cystinkrankhein. Helv Paediatr Acta 1949, 4:359-396.
24. Santer R, Groth S, Kinner M, Dombrowski A, Berry GT, Brodehl J, et al. The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. Hum Genet 2002, 110:21-29.
25. Holme E, Lindstedt S Diagnosis and management of tyrosinemia type I. Curr Opi Pediatr 1995, 6:726-732.
26. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW The Wilson disease is a putative copper transporting P-type ATPase similar to the Menkes gene. Nature Genet 1993, 5:327-337.
27. Faguer S, Decramer S, Chassaing N, Bellanne-Chantelot C, Calvas P, Beaufils S, et al. Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. Kidney Int 2011, advance online publication.
28. Nakamura H, Kita J, Kawakami A, Yamasaki S, Ida H, Sakamoto N, et al. Multiple bone fracture due to Fanconi's syndrome in primary Sjögren's syndrome complicated with organizing pneumonia. Rheumatol Int 2009, 30:265-267.
29. Vanmassenhove J, Sallee M, Guilpain P, Vanholder R, De Potter A, Libbrecht L, et al. Fanconi syndrome in lymphoma patients: report of the first case series. Nephrol Dial Transplant 2010, 25:2516-2520.
30. Igarashi T, Kawato H, Kamoshita S, et al. Acute tubulointersitial nephritis with uveitis sydnorme presenting as multiple tubular dysfunction including Fanconi's syndrome. Pediatr Nephrol 1992, 6:547-549.
31. Hsiao PJ, Wang SC, Wen MC, Diang LK, Lin SH Fanconi syndrome and CKD in a patient with paroxysmal nocturnal hemoglobinuria and hemosiderosis. Am J Kidney Dis 2010, 55:e1-e5.
32. Hall AM, Hendry BM, Nitsch D, Connolly JO Tenfovir-associated kidney toxicity in HIV-infected patients: a review of the evidence. Am J Kidney Dis 2011, 57:773-780.
33. Yoshinami T, Yagi T, Sakai D, Sugimoto N, Imamura F A case of acquired Fanconi syndrome induced by zoledronic acid. Intern Med 2011, 50:1075-1079.
34. Yacobovich J, Stark P, Barziai-Birenbaum S, Krause I, Pazgal I, Yaniv I, et al. Acquired proximal tubular dysfunction in β-thalassemia patients treated with deferasirox. J Pediatr Hematol Oncol 2010, 32:564-567.
35. Johri N, Jacquillet G, Unwin R Heavy metal poisoning: the effects of cadmium on the kidney. Biometals 2010, 23:783-792.
36. Ram R, Swarnalatha G, Ashok KK, Madhuri HR, Dakshinamurty KV Fanconi syndrome following honeybee stings. Int Urol Nephrol 2010, 10.1007/s11255-010-9855-z.
37. How JW Amelioration of hypophosphatemic rickets and osteoporosis with pamidronate and growth hormone in Lowe syndrome. J Formos Med Assoc 2009, 108:730-735.
38. Dent CE, Friedman M Hypercalcuric rickets associated with renal tubular damage. Arch Dis Child 1964, 39:240-249.
39. Pook MA, Wrong O, Wooding C, Norden AGW, Feest TG, Thakker RV Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a micro-deletion involving DXS255 and maps to Xp11.22. Hum Mol Genet 1993, 2:2129-2134.
40. Scheinman SJ, Pook MA, Wooding C, Pang JT, Frymoyer PA, Thakker RV Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies. J Clin Invest 1993, 91:2351-2357.
41. Wrong OM, Norden AGW, Feest TG 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 1994, 87:473-493.
42. Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, et al. A common molecular basis for three inherited kidney stone diseases. Nature 1996, 379:445-449.
43. Lloyd SE, Pearce SHS, Günther W, Kawaguchi H, Igarashi T, Jentsch TJ, et al. Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). J Clin Invest 1997, 99:967-974.
44. Scheinman SJ X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int 1998, 53:3-17.
45. Wu F, Reed AA, Williams SE, Loh NY, Lippiat JD, Christie PT, et al. Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease. Nephron Physiol 2009, 112:53-62.
46. Shrimpton AE, Hoopes RR, Knohl SJ, Hueber P, Reed AA, Christie PT, et al. OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability. Nephron Physiol 2009, 112:27-36.
47. Ludwig M, Utsch B, Balluch B, Fründ S, Kuwertz-Bröking E, Bökenkamp A Hypercalciuria in patients with CLCN5 mutations. Pediatr Nephrol 2006, 21:1241-1250.
48. Copelovitch L, Nash MA, Kaplan BS Hypothesis: dent disease is an underrecognized cause of focal glomerulosclerosis. Clin J Am Soc Nephrol 2007, 2:914-918.
49. Besbas N, Ozaltin F, Jeck N, Seyberth H, Ludwig M CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease. Nephrol Dial Transplant 2005, 20:1476-1479.
50. Bogdanović R, Draaken M, Toromanović A, Dordević M, Stajić N, Ludwig M A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency. Pediatr Nephrol 2010, 25:2363-2368.
51. Hoopes RR, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, et al. Dent Disease with mutations in OCRL1. Am J Hum Genet 2005, 76:260-267.
52. Scheel O, Zdebik AA, Lourdel S, Jentsch TJ Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins. Nature 2005, 436:424-427.
53. Wu F, Roche P, Christie PT, Loh NY, Reed AAC, Esnouf RM, et al. Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship. Kidney Int 2003, 63:1426-1432.
54. Devuyst O, Christie PT, Courtoy PJ, Beauwens R, Thakker RV Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease. Hum Mol Genet 1999, 8:247-257.
55. Günther W, Lüchow A, Cluzeaud F, Vandewalle A, Jentsch TJ ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells. Proc Natl Acad Sci USA 1998, 95:8075-8080.
56. Christensen EI, Birn H Megalin and cubilin: multifunctional endocytic receptors. Nat Rev Mol Cell Biol 2002, 3:256-266.
57. --channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature 2000, 408:369-373.
58. Wang SS, Devuyst O, Courtoy PJ, Wang T, Wang H, Wang Y, et al. Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. Hum Mol Genet 2000, 9:2937-2945.
59. Novarino G, Weinert S, Rickheit G, Jentsch TJ Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis. Science 2010, 328:1398-1401.
60. Christensen EI, Devuyst O, Dom G, Nielsen R, Van der Smissen P, Verroust P, et al. Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules. Proc Natl Acad Sci USA 2003, 100:8472-8477.
61. Gailly P, Jouret F, Martin D, Cosyns JP, Nishita T, Antignac C, et al. Type III carbonic anhydrase: A novel renal isoform that plays a role in proximal tubule dysfunction. Kidney Int 2008, 74:52-61.
62. Nielsen R, Courtoy PJ, Jacobsen C, Dom G, Rezende Lima W, Jadot M, et al. Endocytosis provides a major alternative pathway for lysosomal biogenesis in kidney proximal tubular cells. Proc Natl Acad Sci USA 2007, 104:5407-5412.
63. Scheinman SJ, Cox JPD, Lloyd SE, Pearce SHS, Salenger PV, Hoopers RR, et al. Isolated hypercalciuria with mutation in CLCN5: Relevance to idiopathic hypercalciuria. Kidney Int 2000, 57:232-239.
64. Sayer JA, Carr G, Simmons NL Calcium phosphate and calcium oxalate crystal handling is dependent upon CLC-5 expression in mouse collecting duct cells. Biochim Biophys Acta 2004, 1689:83-90.
65. Leahey AM, Charnas LR, Nussbaum RL Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. Hum Mol Genet 1993, 2:461-463.
66. Zhang X, Hartz PA, Philip E, Racusen LC, Majerus PW Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate. J Biol Chem 1998, 273:1574-1582.
67. Ungewickell AJ, Majerus PW Increased levels of plasma lysosomal enzymes in patients with Lowe syndrome. Proc Natl Acad Sci USA 1999, 96:13342-13344.
68. Erdmann KS, Mao Y, McCrea HJ, Zoncu R, Lee S, Paradise S, et al. A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway. Dev Cell 2007, 13:377-390.
69. Jänne PA, Suchy SF, Bernard D, MacDonald M, Crawley J, Grinberg A, et al. Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice. J Clin Invest 1998, 101:2042-2053.
70. Bothwell SP, Chan E, Bernardini IM, Kuo YM, Gahl WA, Nussbaum RL Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. J Am Soc Nephrol 2011, 22:443-448.
71. Frishberg Y, Dinour D, Belostotsky R, Becker-Cohen R, Rinat C, Feinstein S, et al. Dent's disease manifesting as focal glomerulosclerosis: is it the tip of the iceberg?. Pediatr Nephrol 2009, 24:2369-2373.
72. +-ATPase without ultrastructural changes in kidneys of Dent's disease patients. Kidney Int 2003, 63:1285-1295.
73. Raja KA, Schurman S, D'mello RG, Blowey D, Goodyer P, Van Why S, et al. Responsiveness of hypercalciuria to thiazide in Dent's disease. J Am Soc Nephrol 2002, 13:2938-2944.
74. Blanchard A, Vargas-Poussou R, Peyrard S, Mogenet A, Baudouin V, Boudailliez B, et al. Effect of hydrochlorothiazide on urinary calcium excretion in Dent disease: an uncontrolled trial. Am J Kidney Dis 2008, 52:1084-1095.
75. Cebotaru V, Kaul S, Devuyst O, Cai H, Racusen L, Guggino WB, et al. High citrate diet delays progression of renal insufficiency in the ClC-5 knockout mouse model of Dent's disease. Kidney Int 2005, 68:642-652.
76. Bartter F, Pronove P, Gill J, MacCardle R Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am J Med 1962, 33:811-828.
77. Jeck N, Schlingmann KP, Reinalter SC, et al. Salt handling in the distal nephron: lessons learned from inherited human disorders. Am J Physiol Regul Integr Comp Physiol 2005, 288:R782-R795.
78. Devuyst O Salt wasting and blood pressure. Nat Genet 2008, 40:495-496.
79. Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 1996, 13:183-188.
80. Simon DB, Karet FE, Rodriguez-Soriano J, et al. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet 1996, 14:152-156.
81. Birkenhager R, Otto E, Schurmann MJ, et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 2001, 29:310-314.
82. Simon DB, Bindra RS, Mansfield TA, et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 1997, 17:171-178.
83. Devuyst O, Konrad M, Jeunemaitre X Tubular disorders of electrolyte regulation. Pediatric Nephrology 2009, 929-978. Springer, New York. 6th ed. E.D. Avner, W.E. Harmon, P. Niaudet, N. Yoshikawa (Eds.).
84. Proesmans W Bartter syndrome and its neonatal variant. Eur J Pediatr 1997, 156:669-679.
85. Rodríguez-Soriano J, Vallo A, Aguirre M Bone mineral density and bone turnover in patients with Bartter syndrome. Pediatr Nephrol 2005, 20:1120-1125.
86. Jeck N, Reinalter SC, Henne T, et al. Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness. Pediatrics 2001, 108:E5.
87. Rodríguez-Soriano J, Vallo A, Pérez de Nanclares G, Bilbao JR, Castaño L A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain. Pediatr Nephrol 2005, 20:891-896.
88. Vaisbich MH, Fujimura MD, Koch VH Bartter syndrome: benefits and side effects of long-term treatment. Pediatr Nephrol 2004, 19:858-863.
89. Reinalter SC, Grone HJ, Konrad M, Seyberth HW, Klaus G Evaluation of long-term treatment with indomethacin in hereditary hypokalemic salt-losing tubulopathies. J Pediatr 2001, 139:398-406.