Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1

Endocrine Journal

Takeshi Yamaguchi¹  Tomonobu Hasegawa²  Katsura Ishizu³  Tetsuo Hattori¹  Eisuke Kondo¹  Akie Nakamura³  Masahiko Narugami¹  Toshihiro Tajima³  Hayato Aoyagi¹  Keiko Homma⁴ 

[1] Department of Pediatrics, Obihiro Kyoukai Hospital, Obihiro 080-0805, Japan;Department of Pediatrics , Keio University School of Medicine, Tokyo 160-8582, Japan;Department of Pediatrics Hokkaido University School of Medicine, Sapporo 060-8638, Japan;Central Clinical Laboratories, Keio University Hospital, Tokyo, 160-8582, Japan

关键词: Aldosterone;    CYP11B2;    Mutations;    Urinary steroid profile;   

DOI  :  10.1507/endocrj.EJ12-0248

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(14)Cited-By(2)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.

【 授权许可】

Unknown