Document Detail

Inherited renal tubulopathies associated with metabolic alkalosis: effects on blood pressure.
MedLine Citation:
PMID:  17275579     Owner:  NLM     Status:  MEDLINE    
Inherited tubular disorders associated with metabolic alkalosis are caused by several gene mutations encoding different tubular transporters responsible for NaCl renal handling. Body volume and renin-angiotensin-aldosterone system status are determined by NaCl reabsorption in the distal nephron. Two common hallmarks in affected individuals: hypokalemia and normal / high blood pressure, support the differential diagnosis. Bartter's syndrome, characterized by hypokalemia and normal blood pressure, is a heterogenic disease caused by the loss of function of SLC12A1 (type 1), KCNJ1 (type 2), CLCNKB (type 3), or BSND genes (type 4). As a result, patients present with renal salt wasting and hypercalciuria. Gitelman's syndrome is caused by the loss of funcion of the SLC12A3 gene and may resemble Bartter's syndrome, though is associated with the very low urinary calcium. Liddle's syndrome, also with similar phenotype but with hypertension, is produced by the gain of function of the SNCC1B or SNCC1G genes, and must be distinguished from other entities of inherited hypertension such as Apparently Mineralocorticoid Excess, of glucocorticoid remediable hypertension.
Gema Ariceta; Juan Rodríguez-Soriano
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Seminars in nephrology     Volume:  26     ISSN:  0270-9295     ISO Abbreviation:  Semin. Nephrol.     Publication Date:  2006 Nov 
Date Detail:
Created Date:  2007-02-05     Completed Date:  2007-04-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8110298     Medline TA:  Semin Nephrol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  422-33     Citation Subset:  IM    
Division of Pediatric Nephrology, Department of Pediatrics, Hospital de Cruces and Basque University School of Medicine, Bilbao, Spain.
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MeSH Terms
Aldosterone / blood
Alkalosis / blood,  complications*,  physiopathology
Biological Markers / blood
Blood Pressure / physiology*
Hypokalemia / blood,  complications,  physiopathology
Potassium / blood
Renal Tubular Transport, Inborn Errors* / blood,  etiology,  physiopathology
Reg. No./Substance:
0/Biological Markers; 52-39-1/Aldosterone; 7440-09-7/Potassium

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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