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Seminars in Nephrology
Volume 29, Issue 4
, Pages 399-411
, July 2009
Hereditary Renal Tubular Disorders
References
- . 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
- . X-linked recessive nephrolithiasis with renal failure. N Engl J Med. 1991;325:681–686
- . Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets. Eur J Hum Genet. 1993;1:269–279
- Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. Kidney Int. 1997;52:911–916
- Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease. Kidney Int. 1998;54:1850–1856
- A common molecular basis for three inherited kidney stone diseases. Nature. 1996;379:445–449
- . CIC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells. Proc Natl Acad Sci U S A. 1998;95:8075–8080
- CIC-5: role in endocytosis in the proximal tubule. Am J Physiol Renal Physiol. 2005;289:F850–F862
- Loss of chloride channel C1C-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules. Proc Natl Acad Sci U S A. 2003;100:8472–8477
- . Bafilomycin A1 treatment retards transferring receptor recycling more than bulk membrane recycling. J Biol Chem. 1997;272:13929–13936
- . Chloride/proton antiporter activity of mammalian CLC proteins C1C-4 and C1C-5. Nature. 2005;436:420–423
- Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients. Kidney Int. 2003;63:1285–1295
- . Diet-dependent hypercalciuria in transgenic mice with reduced CLC5 chloride channel expression. Proc Natl Acad Sci U S A. 1999;96:12174–12179
- . Disruption of clc-5 leads to a redistribution of annexin A2 and promotes calcium crystal agglomeration in collecting duct epithelial cells. Cell Mol Life Sci. 2006;63:367–377
- Phenotypic and genetic heterogeneity in Dent's disease—the results of an Italian collaborative study. Nephrol Dial Transplant. 2006;21:2452–2463
- Dent disease with mutations in OCRL1. Am J Hum Genet. 2005;76:260–267
- Responsiveness of hypercalciuria to thiazide in Dent's disease. J Am Soc Nephrol. 2002;13:2938–2944
- High citrate diet delays progression of renal insufficiency in the CIC-5 knockout mouse model of Dent's disease. Kidney Int. 2005;68:642–652
- 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
- . Hyperplasia of juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. Am J Med. 1962;33:811–828
- . Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome. J Pediatr. 1985;107:694–701
- . Bartter syndrome: unraveling the pathophysiologic enigma. Am J Med. 1998;105:151–161
- Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome lp. Am J Hum Genet. 1998;62:355–361
- Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. J Am Soc Nephrol. 2002;13:2259–2266
- Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet. 2002;360:692–694
- . Bartter's syndrome: the unsolved puzzle. Am J Kidney Dis. 1995;25:813–823
- . Bartter's syndrome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2C1 cotransporter NKCC2. Nat Genet. 1996;13:183–188
- . Mutations in the gene encoding the inwardly rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. Hum Mol Genet. 1997;6:17–26
- . “Neonatal variant” of Bartter syndrome presenting with acidosis. Pediatr Nephrol. 1996;10:79–80
- Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet. 1997;17:171–178
- Barttin is a C1− channel beta-subunit crucial for renal C1− reabsorption and inner ear K+ secretion. Nature. 2001;414:558–561
- Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet. 2001;29:310–314
- Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness. Pediatrics. 2001;108:E5
- Salt wasting and deafness resulting from mutations in two chloride channels. N Engl J Med. 2004;350:1314–1319
- . Divalent cation transport by the distal nephron: insights from Bartter's and Gitelman's syndromes. Am J Physiol. 2000;279:F616–F625
- . Genetic disorders of renal electrolyte transport. N Engl J Med. 1999;340:1177–1187
- Bartter's syndrome and Gitelman's syndrome: two entities sharing the same abnormality in vascular reactivity. Clin Nephrol. 1998;50:65–67
- Increased endothelial nitric oxide synthase mRNA level in Bartter's and Gitelman's syndrome (Relationship to vascular reactivity). Clin Nephrol. 1999;51:12–17
- . A new familial disorder characterized by hypokalemia and hypomagnesaemia. Trans Assoc Am Physicians. 1966;79:221–223
- Human cortical distal nephron: distribution of electrolyte and water transport pathways. J Am Soc Nephrol. 2002;13:836–847
- Gitelman's variant of Bartter's syndrome, inherited hypokalemic alkalosis, is caused by mutations in the thiazide-sensitive Na-C1 cotransporter. Nat Genet. 1996;12:24–30
- . Enhanced passive Ca2+ reabsorption and reduced Mg2+ channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia. J Clin Invest. 2005;115:1651–1658
- . Mutations in the chloride channel gene (CLCNKB, leading to a mixed Bartter-Gitelman phenotype). Pediatr Res. 2000;48:754–758
- A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. Kidney Int. 2003;63:24–32
- . An improved terminology and classification of Bartter-like syndromes. Nat Clin Pract Nephrol. 2008;4:560–567
- . A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans Am Assoc Physicians. 1963;76:199–213
- . A single WW domain is the predominant mediator of the interaction between the human ubiquitin-protein ligase Nedd4 and the human epithelial sodium channel. Biochem J. 2002;361:481–488
- Epithelial sodium channel regulated by aldosterone-induced protein sgk. Proc Natl Acad Sci U S A. 1999;96:2514–2519
- Role of SGK in mineralocorticoid-regulated sodium transport. Kidney Int. 2000;57:1283–1289
- . Epithelial sodium channel and the control of sodium balance: interaction between genetic and environmental factors. Annu Rev Physiol. 2002;64:877–897
- . Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene. J Clin Invest. 1996;97:1780–1784
- Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Cell. 1994;79:407–414
- . Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome. EMBO J. 1996;15:2381–2387
- Regulation of the epithelial Na+ channel by Nedd4 and ubiquitination. Kidney Int. 2000;57:809–815
- Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science. 2000;289:119–123
- . Evidence for an unidentified steroid in a child with apparent mineralocorticoid hypertension. J Clin Endocrinol Metab. 1997;44:924–933
- . Mineralocorticoid action: target tissue specificity is enzyme, not receptor, mediated. Science. 1988;242:583–585
- . Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J Clin Endocrinol Metab. 1991;73:936–944
- . Salt wasting, raised plasma-renin activity, and normal or high plasma aldosterone: a form of pseudohypoaldosteronism. Lancet. 1973;i:959–962
- Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet. 1998;19:279–281
- Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalemic acidosis, pseudohypoaldosteronism type 1. Nat Genet. 1996;12:248–253
- . Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis. J Pediatr. 1994;125:752–755
- . Hypertension and hyperpotassaemia without renal disease in a young male. Med J Aust. 1964;35:305–306
- . Mineralocorticoid-resistant renal hyperkalemia without salt wasting (type II pseudohypoaldosteronism): role of increased renal chloride reabsorption. Kidney Int. 1981;19:716–727
- . Increased chloride reabsorption as an inherited renal tubular defect in familial type II pseudohypoaldosteronism. N Engl J Med. 1991;324:472–476
- Human hypertension caused by mutations in WNK kinases. Science. 2001;293:1107–1112
- . WNK kinases: molecular regulators of integrated epithelial ion transport. Curr Opin Nephrol Hypertens. 2004;13:557–562
- WNK4 regulates the balance between renal NaCl reabsorption and K+ secretion. Nat Genet. 2003;35:372–376
- Molecular pathogenesis of inherited hypertension with hyperkalemia: the Na-C1 cotransporter is inhibited by wildtype but not mutant WNK4. Proc Natl Acad Sci U S A. 2003;100:680–684
- Disease-causing mutant WNK4 increases paracellular chloride permeability and phosphorylates Claudine. Proc Natl Acad Sci U S A. 2004;101:4690–4694
- Aquaporin CHIP the archetypal molecular water channel. Am J Physiol Renal Fluid Electrolyte Physiol. 1993;265:F463–F476
- Immunohistochemical localization of V2 vasopressin receptor along the nephron and functional role of luminal V2 receptor in terminal inner medullary collecting ducts. J Clin Invest. 1995;96:1768–1778
- . The subcellular localization of an aquaporin-2 tetramer depends on the stoichiometry of phosphorylated and nonphosphorylated monomers. J Cell Biol. 2000;151:919–930
- . Vasopressin increases water permeability of kidney collecting duct by inducing translocation of aquaporin-CD-water channels to plasma membrane. Proc Natl Acad Sci U S A. 1995;92:1013–1017
- . Bypassing vasopressin receptor signaling pathways in nephrogenic diabetes insipidus. Semin Nephrol. 2008;28:266–278
- . Mouse models for congenital nephrogenic diabetes insipidus: what can we learn from them?. Nephrol Dial Transplant. 2007;22:1023–1026
- . Therapeutic approaches to protein-misfolding diseases. Nature. 2003;426:905–909
- Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus. J Am Soc Nephrol. 2006;17:232–243
- . Aquaporin 2 mutations in nephrogenic diabetes insipidus. Semin Nephrol. 2008;28:252–265
- . Treatment of congenital nephrogenic diabetes insipidus by hydrochlorothiazide and cyclooxygenase-2 inhibitor. Pediatr Nephrol. 2003;18:1073–1076
- . Vasopressin receptor mutations in nephrogenic diabetes insipidus. Semin Nephrol. 2008;28:245–251
- Characterization of a novel aquaretic agent, OPC-31260, as an orally effective, nonpeptide vasopressin V2 receptor antagonist. Br J Pharmacol. 1992;105:787–791
- . Therapeutic potential of vasopressin receptor antagonists. Drugs. 2007;67:847–858
- Nephrogenic syndrome of inappropriate antidiuresis. N Engl J Med. 2005;352:1884–1890
Supported in part by The Sam and Helen Kaplan Research Fund in Pediatric Nephrology.
PII: S0270-9295(09)00050-3
doi: 10.1016/j.semnephrol.2009.03.013
© 2009 Elsevier Inc. All rights reserved.
« Previous
Next »
Seminars in Nephrology
Volume 29, Issue 4
, Pages 399-411
, July 2009
