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2) Simon DB, Karet FE, Hamdan JM, et al. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet. 1996; 13: 183-8
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3) 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: 152-6
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4) Simon DB, Nelson-Williams C, Bia MJ, et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet. 1996; 12: 24-30
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5) Birkenhager R, Otto E, Schurmann MJ, et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet. 2001; 29: 310-4
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7) 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: 1314-9
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8) Devuyst O, Konrad M, Jaunemaitre X, et al, editors. 38 Tubular disorders of electrolyte regulation. Springer; 2009. p.929-77
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9) Brochard K, Boyer O, Blanchard A, et al. Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. Nephrol Dial Transplant. 2009; 24: 1455-64
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10) Peters M, Jeck N, Reinalter S, et al. Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med. 2002; 112: 183-90
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11) Pressler CA, Heinzinger J, Jeck N, et al. Late-onset manifestation of antenatal Bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl- co-transporter. J Am Soc Nephrol. 2006; 17: 2136-42
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12) Yamazaki H, Nozu K, Narita I, et al. Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosis. Pediatr Nephrol. 2009; 24: 415-8
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14) Nozu K, Fu XJ, Kaito H, et al. A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism. Pediatr Nephrol. 2007; 22: 1219-23
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15) Nozu K, Iijima K, Kanda K, et al. The pharmacological characteristics of molecular-based inherited salt-losing tubulopathies. J Clin Endocrinol Metab. 2010; 95: E511-8
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16) 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: 1449-59
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17) Nozu K, Fu XJ, Nakanishi K, et al. Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR. Pediatr Res. 2007; 62: 364-69
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18) Fukuyama S, Hiramatsu M, Akagi M, et al. Novel mutations of the chloride channel Kb gene in two Japanese patients clinically diagnosed as Bartter syndrome with hypocalciuria. J Clin Endocrinol Metab. 2004; 89: 5847-50
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19) Jeck N, Konrad M, Peters M, et al. Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. Pediatr Res. 2000; 48: 754-8
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20) Zelikovic I, Szargel R, Hawash A, et al. A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. Kidney Int. 2003; 63: 24-32
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21) Bettinelli A, Borsa N, Bellantuono R, et al. Patients with biallelic mutations in the chloride channel gene CLCNKB: long-term management and outcome. Am J Kidney Dis. 2007; 49: 91-8
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22) Jeck N, Reinalter SC, Henne T, et al. Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness. Pediatrics. 2001; 108: E5
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23) Landau D, Shalev H, Ohaly M, et al. Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder. Am J Med Genet. 1995; 59: 454-9
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24) Nozu K, Inagaki T, Fu XJ, et al. Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. J Med Genet. 2008; 45: 182-6
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25) Seyberth HW. An improved terminology and classification of Bartter-like syndromes. Nat Clin Pract Nephrol. 2008; 4: 560-7
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26) Miyamura N, Matsumoto K, Taguchi T, et al. Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin. J Clin Endocrinol Metab. 2003; 88: 781-6
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28) Bettinelli A, Bianchetti MG, Girardin E, et al. 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
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29) Bianchetti MG, Edefonti A, Bettinelli A. The biochemical diagnosis of Gitelman disease and the definition of “hypocalciuria". Pediatr Nephrol. 2003; 18: 409-11
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30) Lin SH, Cheng NL, Hsu YJ, et al. Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter. Am J Kidney Dis. 2004; 43: 304-12
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33) Tosi F, Bianda ND, Truttmann AC, et al. Normal plasma total magnesium in Gitelman syndrome. Am J Med. 2004; 116: 573-4
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34) Tammaro F, Bettinelli A, Cattarelli D, et al. Early appearance of hypokalemia in Gitelman syndrome. Pediatr Nephrol. 2011; 25: 2179-82
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35) Colussi G, Bettinelli A, Tedeschi S, et al. A thiazide test for the diagnosis of renal tubular hypokalemic disorders. Clin J Am Soc Nephrol. 2007; 2: 454-60
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36) Takeuchi Y, Uchida S, Marumo F, et al. Cloning, tissue distribution, and intrarenal localization of ClC chloride channels in human kidney. Kidney Int. 1995; 48: 1497-503
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37) Vandewalle A, Cluzeaud F, Bens M, et al. Localization and induction by dehydration of ClC-K chloride channels in the rat kidney. Am J Physiol. 1997; 272: F678-88
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38) Lemmink HH, Knoers NV, Karolyi L, et al. Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain. Kidney Int. 1998; 54: 720-30
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39) Monkawa T, Kurihara I, Kobayashi K, et al. Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome. J Am Soc Nephrol. 2000; 11: 65-70
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40) Vargas-Poussou R, Dahan K, Kahila D, et al. Spectrum of mutations in Gitelman syndrome. J Am Soc Nephrol. 2011; 22: 693-703
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41) Lo YF, Nozu K, Iijima K, et al. Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndrome. Clin J Am Soc Nephrol. 2011; 6: 630-9
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42) Nozu K, Iijima K, Nozu Y, et al. A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome. Pediatr Res. 2009; 66: 590-3
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43) Choi M, Scholl UI, Ji W, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A. 2009; 106: 19096-101
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44) Seyberth HW, Schlingmann KP. Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. Pediatr Nephrol. 2011; 26: 1789-802
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