Congenital hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency type I in a Portuguese patient – Case report and review of literature
AUTOR(ES)
Lages, Adriana de Sousa
FONTE
Arch. Endocrinol. Metab.
DATA DE PUBLICAÇÃO
2019-01
RESUMO
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.
Documentos Relacionados
- Spinal epidural abscess due to Mycobacterium tuberculosis in a patient with AIDS: case report and review of the literature
- Bacteremia due to Moraxella osloensis: a case report and literature review
- Subcutaneous phaeohyphomycosis due to Cladophialophora bantiana: a first case report in an immunocompetent patient in Latin America and a brief literature review
- Piriformis Pyomyositis in a Patient with Kikuchi-Fujimoto Disease - A Case Report and Literature Review
- Oligodendroglioma in a patient with AIDS: case report and review of the literature