Document Detail

Defective aldosterone synthesis associated with hyperkalemic periodic paralysis.
MedLine Citation:
PMID:  8442715     Owner:  NLM     Status:  MEDLINE    
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.
D B Allen
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Archives of neurology     Volume:  50     ISSN:  0003-9942     ISO Abbreviation:  Arch. Neurol.     Publication Date:  1993 Mar 
Date Detail:
Created Date:  1993-03-29     Completed Date:  1993-03-29     Revised Date:  2010-03-24    
Medline Journal Info:
Nlm Unique ID:  0372436     Medline TA:  Arch Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  325-8     Citation Subset:  AIM; IM    
Department of Pediatrics, University of Wisconsin Children's Hospital, Madison 53792.
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MeSH Terms
Aldosterone / deficiency*
Aldosterone Synthase*
Hyperkalemia / complications*,  metabolism
Mixed Function Oxygenases / deficiency*
Paralysis / complications*,  metabolism
Reg. No./Substance:
52-39-1/Aldosterone; EC 1.-/Mixed Function Oxygenases; EC 1.-/corticosterone methyl oxidase II; EC Synthase

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