Literature DB >> 23953807

Genetic disorders of potassium homeostasis.

Gaurav Jain1, Song Ong, David G Warnock.   

Abstract

Hereditary disorders of potassium homeostasis are an interesting group of disorders, affecting people from the newborn period to adults of all ages. The clinical presentation varies from severe hypotension at birth to uncontrolled hypertension in adults, often associated with abnormal potassium values, although many patients may have a normal serum potassium concentration despite being affected by the genetic disorder. A basic understanding of these disorders and their underlying mechanisms has significant clinical implications, especially in the few patients with subtle clinical signs and symptoms. We present a summary of these disorders, with emphasis on the clinical presentation and genetic mechanisms of these disorders.
Copyright © 2013 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Bartter; Genetic disorders of potassium; Gitelman; Liddle; aldosteronism

Mesh:

Substances:

Year:  2013        PMID: 23953807     DOI: 10.1016/j.semnephrol.2013.04.010

Source DB:  PubMed          Journal:  Semin Nephrol        ISSN: 0270-9295            Impact factor:   5.299


  8 in total

1.  American Society of Nephrology Quiz and Questionnaire 2015: Electrolytes and Acid-Base Disorders.

Authors:  Mitchell H Rosner; Mark A Perazella; Michael J Choi
Journal:  Clin J Am Soc Nephrol       Date:  2016-01-29       Impact factor: 8.237

Review 2.  Dietary potassium and the renal control of salt balance and blood pressure.

Authors:  David Penton; Jan Czogalla; Johannes Loffing
Journal:  Pflugers Arch       Date:  2015-01-06       Impact factor: 3.657

Review 3.  Pathophysiology and treatment of resistant hypertension: the role of aldosterone and amiloride-sensitive sodium channels.

Authors:  Eric K Judd; David A Calhoun; David G Warnock
Journal:  Semin Nephrol       Date:  2014       Impact factor: 5.299

4.  Prevalence of Liddle Syndrome Among Young Hypertension Patients of Undetermined Cause in a Chinese Population.

Authors:  Lin-Ping Wang; Kun-Qi Yang; Xiong-Jing Jiang; Hai-Ying Wu; Hui-Min Zhang; Yu-Bao Zou; Lei Song; Jin Bian; Ru-Tai Hui; Ya-Xin Liu; Xian-Liang Zhou
Journal:  J Clin Hypertens (Greenwich)       Date:  2015-06-15       Impact factor: 3.738

Review 5.  Adrenal disorders and the paediatric brain: pathophysiological considerations and clinical implications.

Authors:  Vincenzo Salpietro; Agata Polizzi; Gabriella Di Rosa; Anna Claudia Romeo; Valeria Dipasquale; Paolo Morabito; Valeria Chirico; Teresa Arrigo; Martino Ruggieri
Journal:  Int J Endocrinol       Date:  2014-09-03       Impact factor: 3.257

Review 6.  The importance of the thick ascending limb of Henle's loop in renal physiology and pathophysiology.

Authors:  Miriam Zacchia; Giovanna Capolongo; Luca Rinaldi; Giovambattista Capasso
Journal:  Int J Nephrol Renovasc Dis       Date:  2018-02-15

7.  Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B.

Authors:  Peng Fan; Chao-Xia Lu; Di Zhang; Kun-Qi Yang; Pei-Pei Lu; Ying Zhang; Xu Meng; Su-Fang Hao; Fang Luo; Ya-Xin Liu; Hui-Min Zhang; Lei Song; Jun Cai; Xue Zhang; Xian-Liang Zhou
Journal:  Endocr Connect       Date:  2018-12       Impact factor: 3.335

Review 8.  Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians.

Authors:  Laura Nuñez-Gonzalez; Noa Carrera; Miguel A Garcia-Gonzalez
Journal:  Int J Mol Sci       Date:  2021-10-22       Impact factor: 5.923

  8 in total

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