Log in or create a free account to read this content
Gain free access to this article, as well as selected content from this journal and more on nature.com
or
References
Bartter FC, Pronove P, Gill JR Jr, Maccardle RC 1962 Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am J Med 33: 811–828
Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP 1996 Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 13: 183–188
Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A, Trachtman H, Sanjad SA, Lifton RP 1996 Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet 14: 152–156
Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R, Schurman S, Nayir A, Alpay H, Bakkaloglu A, Rodriguez-Soriano J, Morales JM, Sanjad SA, Taylor CM, Pilz D, Brem A, Trachtman H, Griswold W, Richard GA, John E, Lifton RP 1997 Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 17: 171–178
Birkenhager R, Otto E, Schurmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sudbrak R, Kispert A, Hildebrandt F 2001 Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 29: 310–314
Vargas-Poussou R, Huang C, Hulin P, Houillier P, Jeunemaitre X, Paillard M, Planelles G, Dechaux M, Miller RT, Antignac C 2002 Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. J Am Soc Nephrol 13: 2259–2266
Watanabe S, Fukumoto S, Chang H, Takeuchi Y, Hasegawa Y, Okazaki R, Chikatsu N, Fujita T 2002 Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet 360: 692–694
Konrad M, Vollmer M, Lemmink HH, van den Heuvel LP, Jeck N, Vargas-Poussou R, Lakings A, Ruf R, Deschenes G, Antignac C, Guay-Woodford L, Knoers NV, Seyberth HW, Feldmann D, Hildebrandt F 2000 Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. J Am Soc Nephrol 11: 1449–1459
Colussi G, De Ferrari ME, Tedeschi S, Prandoni S, Syren ML, Civati G 2002 Bartter syndrome type 3: an unusual cause of nephrolithiasis. Nephrol Dial Transplant 17: 521–523
Tajima T, Nawate M, Takahashi Y, Mizoguchi Y, Sugihara S, Yoshimoto M, Murakami M, Adachi M, Tachibana K, Mochizuki H, Fujieda K 2006 Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome. Endocr J 53: 647–652
Fukuyama S, Okudaira S, Yamazato S, Yamazato M, Ohta T 2003 Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis. Kidney Int 64: 808–816
Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, Seyberth HW 2000 Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. Pediatr Res 48: 754–758
Peters M, Jeck N, Reinalter S, Leonhardt A, Tonshoff B, Klaus GG, Konrad M, Seyberth HW 2002 Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med 112: 183–190
Fukuyama S, Hiramatsu M, Akagi M, Higa M, Ohta T 2004 Novel mutations of the chloride channel Kb gene in two Japanese patients clinically diagnosed as Bartter syndrome with hypocalciuria. J Clin Endocrinol Metab 89: 5847–5850
Watanabe T, Tajima T 2005 Renal cysts and nephrocalcinosis in a patient with Bartter syndrome type III. Pediatr Nephrol 20: 676–678
White SJ, Sterrenburg E, van Ommen GJ, den Dunnen JT, Breuning MH 2003 An alternative to FISH: detecting deletion and duplication carriers within 24 hours. J Med Genet 40: e113
Thomas AC, Cullup T, Norgett EE, Hill T, Barton S, Dale BA, Sprecher E, Sheridan E, Taylor AE, Wilroy RS, Delozier C, Burrows N, Goodyear H, Fleckman P, Stephens KG, Mehta L, Watson RM, Graham R, Wolf R, Slavotinek A, Martin M, Bourn D, Mein CA, O'Toole EA, Kelsell DP 2006 ABCA12 is the major harlequin ichthyosis gene. J Invest Dermatol 126: 2408–2413
Stankiewicz P, Lupski JR 2002 Genome architecture, rearrangements and genomic disorders. Trends Genet 18: 74–82
Author information
Authors and Affiliations
Corresponding author
Additional information
Presented at the 2007 Annual Meeting of the Pediatric Academic Societies, Toronto, Ontario, Canada.
Rights and permissions
About this article
Cite this article
Freed, G. Society for Pediatric Research - 2007 Presidential Address: Expanding the Research Continuum - From Bench to Implementation. Pediatr Res 62, 370–373 (2007). https://doi.org/10.1203/PDR.0b013e318140b02a
Received:
Accepted:
Issue date:
DOI: https://doi.org/10.1203/PDR.0b013e318140b02a
