| Abnormalities of aldosterone synthesis and action in children. | |
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MedLine Citation:
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PMID: 9300202 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Genetic defects in aldosterone biosynthesis and action affect blood pressure and electrolyte homeostasis. Aldosterone synthase deficiency, salt-wasting forms of congenital adrenal hyperplasia, and adrenal hypoplasia congenita all cause aldosterone deficiency, signs of which include hyponatremia, hyperkalemia, hypovolemia, elevated plasma renin activity, and sometimes shock and death. Conversely, the inappropriate regulation of aldosterone synthesis seen in glucocorticoid-suppressible hyperaldosteronism may cause hypokalemia, suppressed plasma renin activity, and hypertension. Similar problems occur when the normal ligand specificity of the aldosterone receptor is lost, as in the syndrome of apparent mineralocorticoid excess due to 11 beta-hydroxysteroid dehydrogenase deficiency. The effects of aldosterone are mediated largely through activation of the epithelial sodium channel, and inactivating or activating mutations of this channel leads to signs of mineralocorticoid deficiency or excess, termed pseudohypoaldosteronism and Liddle's syndrome, respectively. |
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Authors:
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P C White |
Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Current opinion in pediatrics Volume: 9 ISSN: 1040-8703 ISO Abbreviation: Curr. Opin. Pediatr. Publication Date: 1997 Aug |
Date Detail:
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Created Date: 1997-10-14 Completed Date: 1997-10-14 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 9000850 Medline TA: Curr Opin Pediatr Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 424-30 Citation Subset: IM |
Affiliation:
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UT Southwestern Medical Center, Dallas, TX 75235-9063, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adrenal Hyperplasia, Congenital
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complications,
genetics* Aldosterone Synthase / deficiency* Child Humans Hyperaldosteronism / complications, genetics* Hypoaldosteronism / complications, genetics* Mutation / genetics Pseudohypoaldosteronism / complications, genetics* Water-Electrolyte Imbalance / etiology |
| Chemical | |
Reg. No./Substance:
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EC 1.14.15.4/Aldosterone Synthase |
| Comments/Corrections | |
Comment In:
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Curr Opin Pediatr. 1997 Aug;9(4):407-12
[PMID:
9300199
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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