Document Detail

Apparent Mineralocorticoid Excess: Time of Manifestation and Complications Despite Treatment.
MedLine Citation:
PMID:  21536617     Owner:  NLM     Status:  Publisher    
Here we describe the case of a patient followed from birth because of a positive family history for apparent mineralocorticoid excess (AME) in an older brother. The patient, a girl, had normal serum electrolyte and blood pressure measurements in the first months after birth. Not until the age of 11 months did she develop anorexia and failure to thrive in combination with hypertension, hypokalemia, and metabolic alkalosis, which are consistent with the diagnosis of AME. This diagnosis was confirmed by mutation analysis of the HSD11B2 gene (C1228T). Treatment with amiloride and furosemide electrolyte disturbances and normalized her blood pressure. At the age of 19 years she unexpectedly suffered a stroke. Additional investigations revealed no accepted risk factor for stroke. We discuss the possible underlying mechanisms for the delayed manifestation of hypertension and electrolyte disturbances in AME, propose an additional explanation for the stroke in this patient, and advise treatment with a mineralocorticoid receptor antagonist to reduce stroke risk in patients with AME.
Noël B B Knops; Leo A Monnens; Jacques W Lenders; Elena N Levtchenko
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-5-2
Journal Detail:
Title:  Pediatrics     Volume:  -     ISSN:  1098-4275     ISO Abbreviation:  -     Publication Date:  2011 May 
Date Detail:
Created Date:  2011-5-3     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0376422     Medline TA:  Pediatrics     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium;
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