| Defective aldosterone synthesis associated with hyperkalemic periodic paralysis. | |
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MedLine Citation:
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PMID: 8442715 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To describe defective aldosterone biosynthesis (corticosterone methyl oxidase type II [CMO-II] deficiency) in a kindred with hyperkalemic periodic paralysis. SETTING: Tertiary care hospital in Madison, Wis. PATIENTS: Individuals studied included a female infant with failure to thrive, hyponatremia, and hyperkalemia; the infant's asymptomatic mother and father; and a maternal aunt and grandmother with hyperkalemic periodic paralysis. INTERVENTIONS: Mineralocorticoid synthetic pathways were analyzed with synthetic adrenocorticotropin stimulation. In one patient with hyperkalemic periodic paralysis, acetazolamide sodium therapy was discontinued and replaced with fludrocortisone acetate therapy. MEASUREMENTS/MAIN RESULTS: Impaired aldosterone synthesis with marked accumulation of mineralocorticoid precursors 18-hydroxycorticosterone and corticosterone indicated severe CMO-II deficiency in the infant. In her relatives and parents, baseline aldosterone levels (74 to 111 pmol/L) were low (reference range, 194 to 830 pmol/L, a nonstricted sodium diet). Serum 18-hydroxycorticosterone levels (442 to 1021 pmol/L) were normal (reference range, 138 to 1270 pmol/L), but ratios of 18-hydroxycorticosterone to aldosterone were abnormally elevated (4.5 to 13.7; reference range, 2.65 +/- 1.86), indicating deficient CMO-II enzyme activity. Acetazolamide therapy was substituted with fludrocortisone therapy in the maternal aunt without return of paralytic symptoms. CONCLUSION: This association of hyperkalemic periodic paralysis with CMO-II deficiency and resolution of paralytic episodes with fludrocortisone therapy suggests a contribution of defective mineralocorticoid-mediated potassium homeostasis to the pathogenesis of hyperkalemic periodic paralysis. |
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Authors:
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D B Allen |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Archives of neurology Volume: 50 ISSN: 0003-9942 ISO Abbreviation: Arch. Neurol. Publication Date: 1993 Mar |
Date Detail:
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Created Date: 1993-03-29 Completed Date: 1993-03-29 Revised Date: 2010-03-24 |
Medline Journal Info:
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Nlm Unique ID: 0372436 Medline TA: Arch Neurol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 325-8 Citation Subset: AIM; IM |
Affiliation:
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Department of Pediatrics, University of Wisconsin Children's Hospital, Madison 53792. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Aldosterone
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deficiency* Aldosterone Synthase* Female Humans Hyperkalemia / complications*, metabolism Infant Mixed Function Oxygenases / deficiency* Paralysis / complications*, metabolism |
| Chemical | |
Reg. No./Substance:
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52-39-1/Aldosterone; EC 1.-/Mixed Function Oxygenases; EC 1.-/corticosterone methyl oxidase II; EC 1.14.15.4/Aldosterone Synthase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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