How Bartter's and Gitelman's syndromes, and dent's disease have provided important insights into the function of three renal chloride channels: ClC-Ka/b and ClC-5

Nephron - Physiology

Volumn 103, Issue 1, 2006, Pages

  Briet, Marie ^b   Vargas Poussou, Rosa ^b   Lourdel, Stephane ^b   Houillier, Pascal ^b   Blanchard, Anne ^a  

^a HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^b NONE

Author keywords

Bartter's syndrome; CIC 5; CIC Ka; CIC Kb; Dent's disease; Genetic approach; Gitelman's syndrome, genetic approach; Ion transport; Renal tubule

Indexed keywords

CHLORIDE; CHLORIDE CHANNEL; CHLORIDE CHANNEL 5; CHLORIDE CHANNEL B; CHLORIDE CHANNEL KA; MEGALIN; SODIUM; SODIUM CHLORIDE; UNCLASSIFIED DRUG;

BARTTER SYNDROME; CALCIUM EXCRETION; CALCIUM URINE LEVEL; CHLORIDE TRANSPORT; DENT DISEASE; ENDOCYTOSIS; ENDOSOME; FANCONI RENOTUBULAR SYNDROME; GENE MUTATION; GITELMAN SYNDROME; HENLE LOOP; INTRACELLULAR TRANSPORT; KIDNEY DISEASE; KIDNEY DISTAL TUBULE; KIDNEY PROXIMAL TUBULE; KIDNEY TUBULE ABSORPTION; KIDNEY TUBULE FUNCTION; MEMBRANE TRANSPORT; MOLECULAR WEIGHT; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; SHORT SURVEY; SODIUM TRANSPORT;

ANIMALS; BARTTER SYNDROME; CHLORIDE CHANNELS; HUMANS; KIDNEY DISEASES;

EID: 33644840664     PISSN: 16602137     EISSN: None     Source Type: Journal    
DOI: 10.1159/000090218     Document Type: Short Survey

References (32)

1. - channels gleaned from human genetic disease and mouse models. Annu Rev Physiol 2005;67:779-807.
2. Matsumura Y, Uchida S, Kondo Y, et al: Overt nephrogenic diabetes insipidus in mice lacking the CLC-K1 chloride channel. Nat Genet 1999;21:95-98.
3. Zelikovic I: Hypokalaemic salt-losing tubulopathies: an evolving story. Nephrol Dial Transplant 2003;18:1696-1700.
4. 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.
5. + secretion. Nature 2001;414:558-561.
6. Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, Seyberth HW: Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. Pediatr Res 2000;48:754-758.
7. Konrad M, Vollmer M, Lemmink HH, et al: Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. J Am Soc Nephrol 2000;11:1449-1459.
8. Schlingmann KP, Konrad M, Jeck N, et al: Salt wasting and deafness resulting from mutations in two chloride channels. N Engl J Med 2004;350:1314-1319.
9. Geller DS: A genetic predisposition to hypertension? Hypertension 2004;44:27-28.
10. Kokubo Y, Iwai N, Tago N, et al: Association analysis between hypertension and CYBA, CLCNKB, and KCNMB1 functional polymorphisms in the Japanese population - the Suita Study. Circ J 2005;69:138-142.
11. Wrong O, Norden A, Feest T: 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. QJM 1994;87:473-493.
12. Lloyd S, Pearce S, Fisher S, et al: A common molecular basis for three inherited kidney stone diseases. Nature 1996;379:445-449.
13. Hoopes RR Jr, Shrimpton AE, Knohl SJ, et al: Dent disease with mutations in OCRL1. Am J Hum Genet 2005;76:260-267.
14. Devuyst O, Christie P, Courtoy P, Beauwens R, Thakker R: 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.
15. Luyckx VA, Leclercq B, Dowland LK, Yu AS: Diet-dependent hypercalciuria in transgenic mice with reduced CLC5 chloride channel expression. Proc Natl Acad Sci USA 1999;96:12174-12179.
16. Wang S, Devuyst O, Courtoy P, 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.
17. - channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature 2000;408:369-373.
18. Marshansky V, Ausiello DA, Brown D: Physiological importance of endosomal acidification: potential role in proximal tubulopathies. Curr Opin Nephrol Hypertens 2002;11:527-537.
19. Devuyst O, Jouret F, Auzanneau C, Courtoy PJ: Chloride channels and endocytosis: new insights from Dent's disease and ClC-5 knockout mice. Nephron Physiol 2005;99:69-73.
20. Gunther W, Piwon N, Jentsch TJ: The ClC-5 chloride channel knock-out mouse - an animal model for Dent's disease. Pflügers Arch 2003;445:456-462.
21. Christensen E, Devuyst O, Dom G, 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.
22. Scheel O, Zdebik A, Lourdel S, Jentsch T: Voltage-dependent electrogenic chloride-proton exchange by endosomal CLC proteins. Nature 2005;436:424-427.
23. Picollo A, Pusch M: Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5. Nature 2005;436:420-423.
24. Hryciw DH, Ekberg J, Lee A, et al: Nedd4-2 functionally interacts with ClC-5: involvement in constitutive albumin endocytosis in proximal tubule cells. J Biol Chem 2004;279:54996-55007.
25. Yu AS: Role of ClC-5 in the pathogenesis of hypercalciuria: recent insights from transgenic mouse models. Curr Opin Nephrol Hypertens 2001;10:415-420.
26. Reinhart SC, Norden AG, Lapsley M, et al: Characterization of carrier females and affected males with X-linked recessive nephrolithiasis. J Am Soc Nephrol 1995;5:1451-1461.
27. Silva IV, 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 2003;18:615-623.
28. Norden A, Scheinman S, Deschodt-Lanckman M, et al: Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases. Kidney Int 2000;57:240-249.
29. Sayer JA, Carr G, Pearce SH, Goodship TH, Simmons NL: Disordered calcium crystal handling in antisense CLC-5-treated collecting duct cells. Biochem Biophys Res Commun 2003;300:305-310.
30. Cutillas PR, Chalkley RJ, Hansen KC, et al: The urinary proteome in Fanconi syndrome implies specificity in the reabsorption of proteins by renal proximal tubule cells. Am J Physiol Renal Physiol 2004;287:F353-F364.
31. Verhulst A, D'Haese PC, De Broe ME: Inhibitors of HMG-CoA reductase reduce receptormediated endocytosis in human kidney proximal tubular cells. J Am Soc Nephrol 2004;15:2249-2257.
32. 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.