Pulmonary Epithelial Sodium-Channel Dysfunction and Excess Airway Liquid in Pseudohypoaldosteronism

Pseudohypoaldosteronism is a rare syndrome characterized by defective sodium transport in the distal nephron and renal salt wasting despite high serum aldosterone concentrations. Two clinically distinct forms of pseudohypoaldosteronism have been described. 1 The systemic form is characterized by sal...

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Bibliographic Details
Published in:	The New England journal of medicine Vol. 341; no. 3; pp. 156 - 162
Main Authors:	Kerem, Eitan, Bistritzer, Tzvy, Hanukoglu, Aaron, Hofmann, Thomas, Zhou, Zhaoqing, Bennett, William, MacLaughlin, Eithne, Barker, Pierre, Nash, Martin, Quittell, Lynne, Boucher, Richard, Homolya, Vera, Keenan, Bruce, Knowles, Michael R
Format:	Journal Article
Language:	English
Published:	Boston, MA Massachusetts Medical Society 15-07-1999
Subjects:	Absorption Adolescent Adrenals. Adrenal axis. Renin-angiotensin system (diseases) Adult Biological and medical sciences Body Fluids - metabolism Bronchoscopy Child Child, Preschool Colleges & universities Endocrinopathies Epithelial Cells - metabolism Female Genotype Humans Infant Ion Transport Lung - cytology Lung - metabolism Lung - physiopathology Lung diseases Male Medical sciences Mutation Non tumoral diseases. Target tissue resistance. Benign neoplasms Pseudohypoaldosteronism - genetics Pseudohypoaldosteronism - metabolism Pseudohypoaldosteronism - physiopathology Respiratory Function Tests Sodium Sodium - metabolism Sodium Channels - genetics Sodium Channels - metabolism Tropical medicine Endocrinopathy Human Kidney disease Biological fluid Lung disease Volumetric analysis Composition Urinary system disease Cell function Pathophysiology Respiratory disease Respiratory epithelium Biological transport Tubulopathy Bronchus Exploration Ionic channel Systemic Aldosterone Target tissue resistance Sodium Pseudohypoaldosteronism Mutation Child
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Summary:	Pseudohypoaldosteronism is a rare syndrome characterized by defective sodium transport in the distal nephron and renal salt wasting despite high serum aldosterone concentrations. Two clinically distinct forms of pseudohypoaldosteronism have been described. 1 The systemic form is characterized by salt loss from multiple organs, including the kidneys, colon, salivary glands, and sweat ducts. It is inherited as an autosomal recessive trait and is caused by loss-of-function mutations in the genes for an epithelial sodium channel in those tissues. 2 , 3 The renal form is characterized by salt loss from the kidneys. It is inherited as an autosomal dominant trait and is caused . . .
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0028-4793 1533-4406
DOI:	10.1056/NEJM199907153410304