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- W2015450170 abstract "The familial hyperkalemic hypertension syndromes ( 1 Paver W. Pauline G. Hypertension and hyperpotassaemia without renal disease in a young male. Med J Aust. 1964; 2: 305-306 PubMed Google Scholar , 2 Arnold J.E. Healy J.K. Hyperkalemia, hypertension and systemic acidosis without renal failure associated with a tubular defect in potassium excretion. Am J Med. 1969; 47: 461-472 Abstract Full Text PDF PubMed Scopus (58) Google Scholar ), also referred to as Gordon syndrome ( 3 Gordon R.D. The syndrome of hypertension and hyperkalemia with normal glomerular filtration rate: Gordon’s syndrome. Aust N Z J Med. 1986; 16: 183-184 Crossref PubMed Scopus (37) Google Scholar ) or pseudohypoaldosteronism type 2 ( 4 Schambelan M. Sebastian A. Rector F.J. Mineralocorticoid-resistant renal hyperkalemia without salt wasting (type II pseudohypoaldosteronism) role of increased renal chloride reabsorption. Kidney Int. 1981; 19: 716-727 Crossref PubMed Scopus (192) Google Scholar ), are rare, autosomal dominant forms of hyperkalemia characterized by impaired renal potassium secretion, hyperchloremic metabolic acidosis, hypertension, and a normal glomerular filtration rate. Patients with these syndromes respond to treatment with thiazide diuretics. Recently, deletions (WNK1) and missense mutations (WNK4) in the genes for a novel family of serine/threonine kinases—WNK (With No Lysine [K]) ( 5 Xu B. English J.M. Wilsbacher J.L. et al. WNK1, a novel mammalian serine/threonine protein kinase lacking the catalytic lysine in subdomain II. J Biol Chem. 2000; 275: 16795-16801 Crossref PubMed Scopus (407) Google Scholar )—have accounted for the disease in different families ( 6 Wilson F. Disse-Nicodème S. Choate K. et al. Mutations in WNK kinases reveal a novel mechanism of human hypertension. Science. 2001; 293: 1107-1112 Crossref PubMed Scopus (1208) Google Scholar ). In this report, we describe the phenotypic manifestations of the intronic deletion of WNK1 in a large French pedigree, including 17 patients with the mutation and 32 unaffected relatives." @default.
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- W2015450170 date "2003-04-01" @default.
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- W2015450170 title "Familial hyperkalemic hypertension: phenotypic analysis in a large family with the WNK1 deletion mutation" @default.
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- W2015450170 doi "https://doi.org/10.1016/s0002-9343(03)00054-8" @default.
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