Hereditary hypokalemic salt-losing tubular disorders
Joint Authors
Peters, Melanie
Konrad, Martin
Seyberth, Hannsjorg W.
Source
Saudi Journal of Kidney Diseases and Transplantation
Issue
Vol. 14, Issue 3 (30 Jun. 2003), pp.386-397, 12 p.
Publisher
Saudi Center for Organ Transplantation
Publication Date
2003-06-30
Country of Publication
Saudi Arabia
No. of Pages
12
Main Subjects
Topics
Abstract EN
The inherited hypokalemic tubular disorders are frequently summarized under the heading "Bartter syndrome" since they share several clinical and biochemical findings such as renal salt wasting, hypokalemic metabolic alkalosis, normal blood pressure despite hypereninemic hyperal dosteronism and hyperplasia of the juxtaglomerular apparatus.
However, careful characterization of the clinical phenotype and the correlation with the underlying molecular basis justifies the differentiation into at least four distinct disease entities : (i) the hyperprostaglandin E syndrome or antenatal variant of Bartter syndrome (HPS/aBS), which is caused by mutations in either the Na-K-2Cl cotransporter or the potassium channel of the medullary thick ascending limb of Henle's loop ; (ii) the HPS / aBS with sensorineural deafness which results from inactivating mutations in the Barttin beta subunit of the renal chloride channels ; (iii) the classic Bartter syndrome caused by mutations in the chloride channel of the distal nephron ; and (iv) Gitelman's variant of Bartter syndrome which is caused by mutations of the Na-Cl cotransporter of the distal convoluted tubule.
This review will summarize the clinical characteristics of these diseases and the progress recently made in the identification of the underlying molecular defects that will hopefully add to the current knowledge of the pathogenesis of these diseases.
American Psychological Association (APA)
Peters, Melanie& Konrad, Martin& Seyberth, Hannsjorg W.. 2003. Hereditary hypokalemic salt-losing tubular disorders. Saudi Journal of Kidney Diseases and Transplantation،Vol. 14, no. 3, pp.386-397.
https://search.emarefa.net/detail/BIM-60427
Modern Language Association (MLA)
Peters, Melanie…[et al.]. Hereditary hypokalemic salt-losing tubular disorders. Saudi Journal of Kidney Diseases and Transplantation Vol. 14, no. 3 (Aug. 2003), pp.386-397.
https://search.emarefa.net/detail/BIM-60427
American Medical Association (AMA)
Peters, Melanie& Konrad, Martin& Seyberth, Hannsjorg W.. Hereditary hypokalemic salt-losing tubular disorders. Saudi Journal of Kidney Diseases and Transplantation. 2003. Vol. 14, no. 3, pp.386-397.
https://search.emarefa.net/detail/BIM-60427
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 395-397
Record ID
BIM-60427