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Seminars in Nephrology
Volume 26, Issue 6
, Pages 422-433
, November 2006
Inherited Renal Tubulopathies Associated With Metabolic Alkalosis: Effects on Blood Pressure
References
- . Renal Physiology. (ed 3). Philadelphia, PA: Mosby, Inc; 2001;
- . Tubular disorders of electrolyte regulation. In: Avner ED, Harmon WE, Niaudet P editor. Pediatric Nephrology. (ed 5). Baltimore, MD: Lippincott, William & Wilkins; 2004;p. 729–756
- . Ion transport mechanisms in thick ascending limb of Henle’s loop of mammalian nephron. Physiol Rev. 1985;65:760–797
- . An ATP-regulated, inwardly rectifying potassium channel from rat kidney (ROMK). Kidney Int. 1995;48:1010–1016
- . Divalent cation transport by the distal nephron: Insights from Bartter’s and Gitelman’s syndromes. Am J Physiol. 2000;279:F616–F625
- Human cortical distal nephron: Distribution of electrolyte and water transport pathways. J Am Soc Nephrol. 2002;13:836–847
- . Functional and structural analysis of ClC-K chloride channels involved in renal disease. J Biol Chem. 2000;275:24527–24533
- Barttin is a Cl-channel beta-subunit crucial for renal Cl-reabsorption and inner ear K+ secretion. Nature. 2001;414:558–561
- Sgk is an aldosterone-induced kinase in the renal collecting duct (Effects on epithelial Na+ channels). J Biol Chem. 1999;274:16973–16978
- . 11 beta-hydroxysteroid dehydrogenase in renal collecting duct cells. Steroids. 1994;59:105–110
- Renal transport and the genetic basis of hypertensive disease. Clin Exp Nephrol. 2005;9:91–99
- . Molecular mechanisms of human hypertension. Cell. 2001;104:545–556
- . Bartter and related syndromes: The puzzle is almost solved. Pediatr Nephrol. 1998;12:315–327
- . Potassium homeostasis and its disturbances in children. Pediatr Nephrol. 1995;9:364–374
- Chloride deficiency as a presentation or complication of cystic fibrosis. Eur J Pediatr. 1994;153:825–828
- . Bartter síndrome. Curr Opin Nephrol Hypertens. 2003;12:527–532
- Hyperplasia of juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. Am J Med. 1962;33:811–818
- . Bartter syndrome and its neonatal variant. Eur J Pediatr. 1997;156:669–679
- Congenital hypokalemia with hypercalciuria in preterm infants: A hyperprostaglandinuric tubular syndrome different from Bartter syndrome. J Pediatr. 1985;107:694–701
- Bartter’s syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet. 1996;13:183–188
- Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome. Am J Hum Genet. 1998;62:1332–1340
- Phenotypic variability in Bartter syndrome type I. Pediatr Nephrol. 2000;14:940–945
- . 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
- Two novel mutations in the gene for Kir 1.1 (ROMK) in neonatal Bartter syndrome. Pediatric Nephrol. 1997;12:69–71
- Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome. Kidney Int. 2001;69:1803–1811
- Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters. J Am Soc Nephrol. 2003;14:1419–1426
- Genetic heterogeneity of Bartter’s syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet. 1996;14:152–156
- Functional implications of mutations in the human renal outer medullary potassium channel (ROMK2) identified in Bartter syndrome. Pflugers Arch. 2002;443:466–472
- pH gating of ROMK (Kir 1.1) channels: Control by an arg-lys-arg triad disrupted in antenatal Bartter syndrome. Proc Natl Acad Sci U S A. 1999;96:15298–15303
- . Large deletion of the 5′ end of the ROMK1 gene causes antenatal Bartter syndrome. J Am Soc Nephrol. 1998;9:2357–2359
- Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome. Kidney Int. 2003;64:923–932
- Antenatal Bartter syndrome with sensorineural deafness: Refinement of the locus on chromosome 1p31. Nephrol Dial Transplant. 2000;15:970–974
- Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet. 2001;29:310–314
- Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene. Histochem Cell Biol. 2003;119:485–493
- Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. J Am Soc Nephrol. 2000;11:1449–1459
- Salt wasting and deafness resulting from mutations in two chloride channels. N Engl J Med. 2004;350:1314–1319
- Overt nephrogenic diabetes insipidus in mice lacking the CLC-K1 chloride channel. Nat Genet. 1999;21:95–98
- Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function. Biochem Biophys Res Commun. 1997;230:641–645
- Arachidonic acid inhibits activity of cloned renal K+ channel, ROMK1. Am J Physiol. 1996;271:F588–F594
- . Impaired response to furosemide in hyperprostaglandin E syndrome: Evidence for a tubular defect in the loop of Henle. J Pediatr. 1996;129:519–528
- . Dominant role of prostaglandin E2 EP4 receptor in furosemide-induced salt-losing tubulopathy: A model for hyperprostaglandin E syndrome/antenatal Bartter syndrome. J Am Soc Nephrol. 2005;16:2354–2362
- . Bone mineral density and bone turnover in patients with Bartter syndrome. Pediatr Nephrol. 2005;20:1120–1125
- Prenatal diagnosis in Bartter syndrome. Lancet. 1987;1:394
- Biochemical examination of the mother’s urine is useful for prenatal diagnosis of Bartter syndrome. Prenat Diagn. 1999;19:671–673
- Prenatal and postnatal management of hyperprostaglandin E2 syndrome after genetic diagnosis from amniocytes. Pediatrics. 1999;103:678–683
- Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome. J Pediatr. 2003;142:318–323
- . Hypomagnesemia of hereditary renal origin. Pediatr Nephrol. 1987;1:465–472
- Exogenous prostaglandin administration and pseudo-Bartter syndrome. Eur J Pediatr. 1989;149:208–209
- . Bartter’s syndrome comes of age. Pediatrics. 1999;13:663–664
- Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness. Pediatrics. 2001;108:E5
- The neonatal variant of Bartter syndrome and deafness: Preservation of renal function. Pediatrics. 2003;112:628–633
- Cyclooxygenase 2 expression is associated with the renal macula densa of patients with Bartter-like syndrome. Kidney Int. 2000;58:2420–2424
- Pathogenetic role of cyclooxygenase-2 in hyperprostaglandin E syndrome/antenatal Bartter syndrome: Therapeutic use of cyclooxygenase-2 inhibitor nimesulide. Clin Pharmacol Ther. 2001;70:384–390
- Role of cyclooxygenase-2 in hyperprostaglandin E syndrome/antenatal Bartter syndrome. Kidney Int. 2002;62:253–260
- Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J Pediatr. 1992;120:38–43
- 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
- . Vascular tone control in humans: Insights from studies in Bartter’s/Gitelman’s syndromes. Kidney Int. 2006;69:963–966
- Mutations in the chloride channel ClC-Kb cause Bartter’s syndrome type III. Nat Genet. 1997;17:171–178
- 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
- A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain. Pediatr Nephrol. 2005;20:891–896
- Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome. Pediatr Res. 2005;58:1269–1273
- 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
- Activating mutation ofn the renal epithelial chloride channel ClC-Kb predisposing to hypertension. Hypertension. 2004;43:1175–1181
- Renal handling of water and sodium in infancy and childhood: A study using clearance methods during hypotonic saline diuresis. Kidney Int. 1981;20:700–704
- . Suppressed diluting segment reabsorption in Bartter’s syndrome: Studies in 1 patient and synthesis of literature. Am J Nephrol. 1988;8:402–409
- “Bartter-like” phenotype in Kearns–Sayre síndrome. Pediatr Nephrol. 2006;21:355–360
- A familial disorder with hypokalemic alkalosis, hyperreninemia, aldosteronism, high urinary prostaglandins and normal blood pressure that is not “Bartter’s syndrome.”. Trans Assoc Am Physicians. 1979;92:175–178
- A sibship with hypokalemic alkalosis and renal proximal tubulopathy. Arch Intern Med. 1983;143:1534–1540
- Pseudo-Bartter’s syndrome from subreptitious diuretic intake: Differential diagnosis with true Bartter’s syndrome. Nephrol Dial Transplant. 1992;7:896–901
- Concealed administration of furosemide simulating Bartter’s syndrome in a 4.5 year-old boy. Pediatr Nephrol. 1995;9:749–750
- Case studies of siblings with juxtaglomerular hyperplasia and secondary hyperaldosteronism associated with severe azotemia and renal rickets-Bartter’s syndrome or disease. Pediatrics. 1970;46:344–361
- . A new familial disorder characterized by hypokaliemia and hypomagnesemia. Trans Assoc Am Physicians. 1966;79:221–223
- Chondrocalcinosis secondary to hypomagnesemia in Gitelman’s syndrome. J Rheumatol. 2005;32:1840–1842
- Sclerochoroidal calcification associated with Gitelman syndrome and calcium pyrophosphate dihydrate deposition. J Clin Pathol. 2005;58:1334–1335
- . Gitelman’s syndrome revisited: An evaluation of symptoms and health-related quality of life. Kidney Int. 2001;59:710–717
- Gitelman’s variant of Bartter syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet. 1996;12:24–30
- . Diuretics and potassium/magnesium depletion. Am J Med. 1987;82(suppl 3A):38–47
- Clinical presentation of genetically defined patients with hypokalemic salt-losing nephropathies. Am J Med. 2002;112:183–190
- Genetic renal disorders with hypomagnesemia and hypocalciuria. J Nephrol. 2003;16:293–296
- A new mutation (intron 9+1G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies. Kidney Int. 2004;65:25–29
- Phenotype and genotype analysis in Chinese patients with Gitelman’s syndrome. J Clin Endocrinol Metab. 2005;90:2500–2507
- Functional expression of mutations in the human NaCl cotransport: Evidence for impaired routing mechanisms in Gitelman’s syndrome. J Am Soc Nephrol. 2002;13:1442–1448
- Enhanced passive Ca2+ reabsorption and reduced Mg2+ channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia. J Clin Invest. 2005;115:1651–1658
- . Renal magnesium handling: New insights in understanding old problems. Kidney Int. 1997;52:1180–1195
- Calcium and magnesium metabolism during long-term treatment with thiazides. Scand J Urol Nephrol. 1981;15:257–262
- . Cellular mechanisms of chlorothiazide and potassium depletion on Mg2+ in mouse distal convoluted cells. Kidney Int. 1997;51:1008–1017
- . Renal magnesium handling and its hormonal control. Physiol Rev. 1994;74:305–322
- . The relationship between disorders of K and Mg homeostasis. Semin Nephrol. 1987;7:253–262
- A new tubular disorder with hypokalaemic metabolic alkalosis, severe hypomagnesaemia, hypercalciuria and cardiomyopathy. Nephrol Dial Trasplant. 2005;20:1241–1245
- Mimicry of surreptitious diuretic ingestion and the ability to make a genetic diagnosis. Clin Nephrol. 2001;55:233–237
- Acute and chronic effects of cisplatin therapy on renal magnesium homeostasis. Med Pediatr Oncol. 1997;28:35–40
- . Gitelman’s syndrome (familial hypokalemia-hypomagnesemia). J Nephrol. 2001;14:43–47
- . Magnesium. In: Grimble GK, Predddy VR, Watson RR editor. Nutrition and the infant: Practice and procedures. Cambridge, UK: Greenwich Medical Media, Ltd; 2001;p. 149–158
- . Amiloride prevents thiazide-induced intracellular potassium and magnesium losses. Acta Med Scand. 1988;224:25
- Prevention of cardiac arrhythmias in pediatric patients with normotensive-hypokalemic tubulopathy. Pediatr Nephrol. 2003;18:729–730
- Electrocardiogram with prolonged QT interval in Gitelman disease. Kidney Int. 2002;62:580–584
- Low peripheral plasma renin activity (PRA) as a critical marker in pediatric hypertension. Pediatr Nephrol. 1997;11:343–346
- Genetic disorders of renal electrolyte transport. N Engl J Med. 1999;15:1177–1187
- . A familial renal disorder simulating primary hyperaldosteronism but with negligible aldosterone secretion. Trans Am Assoc Physicians. 1963;76:199–213
- . Liddle’s syndrome revisited—a disorder of sodium reabsorption in the distal tubule. N Engl J Med. 1994;330:178–181
- . Liddle syndrome: Genetics and mechanisms of Na+ channel defects. Am J Med Sci. 2001;322:302–307
- Liddle’s syndrome: Heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Cell. 1994;79:407–414
- Hypertension caused by a truncated epithelial sodium channel gamma subunit: Genetic heterogeneity of Liddle’s syndrome. Nat Genet. 1995;11:76–82
- . New insights into the role of serum- and glucocorticoid-inducible kinase SGK1 in the regulation of renal function and blood pressure. Curr Opin Nephrol Hypertens. 2005;14:59–66
- Defective regulation of the epithelial Na+ channel by Nedd4 in Liddle’s syndrome. J Clin Invest. 1999;103:667–673
- Multiple WW domains, but not the C2 domain, are required for inhibition of the epithelial Na+ channel by human Nedd4. J Biol Chem. 2001;276:28321–28326
- A novel mouse Nedd4 protein suppresses the activity of the epithelial Na+ channel. FASEB J. 2001;15:204–214
- Genetic linkage of β and γ subunits of epithelial sodium channel to systolic blood pressure. Lancet. 1999;353:1222–1225
- A novel variant of the b-subunit of the amiloride-sensitive sodium channel in African Americans. J Am Soc Nephrol. 1996;7:2543–2549
- . Epithelial Na+ channels. Annu Rev Physiol. 1999;53:509–530
- Evidence for an unidentified steroid in a child with apparent mineralocorticoid hypertension. J Clin Endocrinol Metab. 1977;44:924–933
- The syndrome of apparent mineralocorticoid excess: its association with 11-beta-dehydrogenase and 5-bet-reductase deficiency and some consequences for corticosteroid metabolism. J Clin Endocrinol Metab. 1986;63:550–557
- . 11 β-hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. Endocr Rev. 1997;18:135–156
- A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. J Clin Endocrinol Metab. 1995;80:2263–2266
- A genetic defect resulting in mild low-renin hypertension. Proc Natl Acad Sci U S A. 1998;95:10200–10205
- Nephrocalcinosis and renal cysts associated with apparent mineralocorticoid excess. Pediatr Nephrol. 2000;15:60–62
- Gene structure and chromosomal localization of the human HSD11K gene encoding the kidney (type 2) isozyme of 11-beta-hydroxysteroid dehydrogenase. Genomics. 1995;29:195–199
- Mineralocorticoid action: Target tissue specificity is enzyme, not receptor, mediated. Science. 1988;242:583–585
- . Hypertension in congenital adrenal hyperplasia and apparent mineralocorticoid excess. Ann N Y Acad Sci. 2002;970:145–154
- Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess. J Clin Endocrinol Metab. 1998;83:2244–2254
- . Licorice-induced hypertension and syndromes of apparent mineralocorticoid excess. Endocrinol Metab Clin North Am. 1994;23:359–377
- Un caso di pseudoiperaldosteronismo da ingestione di liquirizia. Riv Ital Pediatr. 1980;6:391–392
- Does kidney transplantation normalize cortisol metabolism in apparent mineralocorticoid excess syndrome?. J Endocrinol Invest. 2000;23:457–462
- Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science. 2000;289:119–123
- . Familial hyperaldosteronism. J Steroid Biochem Mol Biol. 2001;78:215–229
- . Glucocorticoid-remediable aldosteronism. Cardiol Rev. 2004;12:44–48
- . Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone. CMAJ. 1966;95:1109–1119
- . Heterogeneous hypertension. Nat Genet. 1995;11:6–9
- A chimeric 11-beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature. 1992;355:262–265
- Hereditary hypertension caused by chimeric gene duplications and ectopic expression of aldosterone synthase. Nat Genet. 1992;2:6–74
- Evaluation of the dexamethasone suppression test for the diagnosis of glucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab. 1997;82:3570–3573
- Glucocorticoid-remediable aldosteronism is associated with severe hypertension in early childhood. J Pediatr. 2001;138:715–720
- . The syndromes of low-renin hypertension: “Separating the wheat from the chaff.”. Arq Bras Endocrinol Metabol. 2004;48:674–681
PII: S0270-9295(06)00142-2
doi: 10.1016/j.semnephrol.2006.10.002
© 2006 Elsevier Inc. All rights reserved.
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Seminars in Nephrology
Volume 26, Issue 6
, Pages 422-433
, November 2006
