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      Bartter’s, Gitelman’s, and Gordon’s Syndromes

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          The molecular basis of many of the inherited disorders of potassium homeostasis has become much clearer in the last two decades. Despite these new insights into the physiology of renal potassium handling, a number of questions remain to be answered. The examples we use to illustrate these issues are Gordon’s syndrome, Bartter’s syndrome, and Gitelman’s syndrome. Our objective is to integrate these new insights into an understanding of the pathophysiology of renal potassium handling. We also propose different ways to think about some of the unresolved issues in this area.

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          Most cited references 5

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          Human hypertension caused by mutations in WNK kinases.

           Z Farfel,  B Dussol,  D. Simon (2001)
          Hypertension is a major public health problem of largely unknown cause. Here, we identify two genes causing pseudohypoaldosteronism type II, a Mendelian trait featuring hypertension, increased renal salt reabsorption, and impaired K+ and H+ excretion. Both genes encode members of the WNK family of serine-threonine kinases. Disease-causing mutations in WNK1 are large intronic deletions that increase WNK1 expression. The mutations in WNK4 are missense, which cluster in a short, highly conserved segment of the encoded protein. Both proteins localize to the distal nephron, a kidney segment involved in salt, K+, and pH homeostasis. WNK1 is cytoplasmic, whereas WNK4 localizes to tight junctions. The WNK kinases and their associated signaling pathway(s) may offer new targets for the development of antihypertensive drugs.
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            Genetic disorders of renal electrolyte transport.

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              Studies on the Pathogenesis of Hypokalemia in Gitelman’s Syndrome: Role of Bicarbonaturia and Hypomagnesemia

              Objective: Hypokalemia and renal potassium (K) wasting are hallmarks of the group of disorders called Bartter’s syndrome. The presence of hypomagnesemia and a low rate of excretion of calcium are currently used to characterize a subgroup of these patients as having Gitelman’s syndrome (GS) in which the molecular lesion is a defect in the thiazide-sensitive NaCl cotransporter in the distal convoluted tubule. This study was undertaken to examine whether bicarbonaturia or hypomagnesemia exacerbates the kaliuresis in patients with GS. Methods: Six patients with most of the diagnostic features of GS were examined. To examine the role of bicarbonaturia, the transtubular K concentration gradient (TTKG) was assessed before and after an oral load of NH 4 Cl which caused the urine pH to be <6. To evaluate the role of hypomagnesemia, the TTKG was examined after an infusion of enough magnesium (Mg) to achieve normal levels of Mg in plasma for close to 24 h. Results: The TTKG remained very high even when the pH of the urine was <6.0. An infusion of Mg caused the TTKG to approach expected values for hypokalemia in 4 of 6 patients. The infusion of Mg was extended in 1 patient who had a sustained high TTKG for 24 h; the TTKG remained elevated for 96 h despite normal plasma Mg levels. Conclusions: Bicarbonaturia does not play a critical role in maintaining the very high TTKG in these patients. The K wasting in 4 of 6 of these patients could largely be attributed to hypomagnesemia and/or Mg depletion. The plasma aldosterone level tended to be higher in patients who did not respond to the infusion of Mg. Therefore, these patients may not represent a homogeneous group with regard to the pathophysiology of their renal K wasting.

                Author and article information

                S. Karger AG
                October 2002
                18 October 2002
                : 92
                : Suppl 1
                : 18-27
                aRenal Division, St. Michael’s Hospital, University of Toronto, Toronto, Ont., Canada; bDepartment of Medicine, State University of New York, Health Science Center at Brooklyn, N.Y., USA
                65373 Nephron 2002;92(suppl 1):18–27
                © 2002 S. Karger AG, Basel

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                Page count
                Figures: 6, Tables: 1, References: 50, Pages: 10
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