Congenital hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency type I in a Portuguese patient - Case report and review of literature
Arch. endocrinol. metab. (Online)
; 63(1): 84-88, Jan.-Feb. 2019. tab
Article
in English
| LILACS
| ID: biblio-989286
Responsible library:
BR1.1
ABSTRACT
SUMMARY Hyperreninemic hypoaldosteronism due to aldosterone synthase (AS) deficiency is a rare condition typically presenting as salt-wasting syndrome in the neonatal period. A one-month-old Portuguese boy born to non-consanguineous parents was examined for feeding difficulties and poor weight gain. A laboratory workup revealed severe hyponatremia, hyperkaliaemia and high plasma renin with unappropriated normal plasma aldosterone levels, raising the suspicion of AS deficiency. Genetic analysis showed double homozygous of two different mutations in the CYP11B2 gene p.Glu198Asp in exon 3 and p.Val386Ala in exon 7. The patient maintains regular follow-up visits in endocrinology clinics and has demonstrated a favourable clinical and laboratory response to mineralocorticoid therapy. To our knowledge, this is the first Portuguese case of AS deficiency reported with confirmed genetic analysis.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Fludrocortisone
/
Hypoaldosteronism
/
Sodium Chloride
/
Cytochrome P-450 CYP11B2
Type of study:
Diagnostic study
Limits:
Humans
/
Male
/
Infant, Newborn
Language:
English
Journal:
Arch. endocrinol. metab. (Online)
Journal subject:
Endocrinology
/
Metabolism
Year:
2019
Document type:
Article
Affiliation country:
Portugal
Institution/Affiliation country:
University Center/PT