Document Detail

Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1.
MedLine Citation:
PMID:  23018980     Owner:  NLM     Status:  MEDLINE    
Isolated hypoaldosteronism is a rare and occasionally life-threatening cause of salt wasting in infancy. A 2-month-old Japanese boy of unrelated parents was examined for failure to thrive and poor weight gain. Laboratory findings were hyponatremia, hyperkalemia, high plasma renin and low aldosterone levels. Spot urine analysis by gas chromatography-mass spectrometry (GC-MS) showed that urinary excretion of corticosterone metabolites was elevated. Whereas excretion of 18-hydroxycortricosterone metabolites was within the normal range, excretion of aldosterone metabolites was undetectable. The patient was therefore suspected to have aldosterone synthase deficiency type 1. Sequence analysis of CYP11B2, the gene encoding aldosterone synthase (CYP11B2), showed that the patient was a compound heterozygote for c.168G>A, p.W56X in exon 1 and c.1149C>T, p.R384X in exon 7. p.W56X was inherited from his mother and p.R384X was from his father. Since both alleles contain nonsense mutations, a lack of CYP11B2 activity was speculated to cause his condition. To our knowledge, this is the first Japanese patient in which the molecular basis of aldosterone synthase deficiency type 1 has been clarified. This case also indicates that spot urinary steroid analysis is useful for diagnosis.
Eisuke Kondo; Akie Nakamura; Keiko Homma; Tomonobu Hasegawa; Takeshi Yamaguchi; Masahiko Narugami; Tetsuo Hattori; Hayato Aoyagi; Katsura Ishizu; Toshihiro Tajima
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2012-10-28
Journal Detail:
Title:  Endocrine journal     Volume:  60     ISSN:  1348-4540     ISO Abbreviation:  Endocr. J.     Publication Date:  2013  
Date Detail:
Created Date:  2013-01-31     Completed Date:  2013-07-22     Revised Date:  2014-11-10    
Medline Journal Info:
Nlm Unique ID:  9313485     Medline TA:  Endocr J     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  51-5     Citation Subset:  IM    
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MeSH Terms
Aldosterone Synthase / deficiency,  genetics*
Asian Continental Ancestry Group / genetics
Hypoaldosteronism / genetics*
Reg. No./Substance:
EC Synthase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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