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.
Subject(s)
Humans , Male , Infant, Newborn , Fludrocortisone/administration & dosage , Hypoaldosteronism/congenital , Sodium Chloride/administration & dosage , Cytochrome P-450 CYP11B2/deficiency , Hypoaldosteronism/diagnosis , Hypoaldosteronism/drug therapyABSTRACT
El hipoaldosteronismo hiporreninémico es un síndrome que no es infrecuente en la práctica clínica, pero que indudablemente es subdiagnosticado. Constituye la mitad de los casos de hiperkalemia inexplicada, por lo que es un diagnóstico que siempre debe tenerse presente, sobre todo en pacientes diabéticos con algún grado de insuficiencia renal. El diagnóstico se confirma con la medición de aldosterona plasmática y la actividad de renina plasmática, en presencia de una función glucocorticoidea normal. Se presenta un caso clínico de hipoaldosteronismo hiporreninémico, cuyo diagnóstico fue sospechado a través de una hiperkalemia asintomática de etiología inexplicada, el que fue confirmado por los exámenes pertinentes y cuyo tratamiento con diuréticos resultó exitoso
Subject(s)
Humans , Female , Middle Aged , Diabetes Mellitus, Type 2/complications , Hyperkalemia/physiopathology , Hypoaldosteronism/diagnosis , Renal Insufficiency, Chronic/complications , Aldosterone/physiology , Diuretics/therapeutic use , Glucocorticoids/physiology , Hypoaldosteronism/drug therapy , Hypoaldosteronism/etiology , Renin-Angiotensin System/physiologyABSTRACT
A four day old female infant was admitted because of poor feeding, vomiting and jaundice. Laboratory examination showed hyperkalemia, mild hyponatremia and renal tubular acidosis type 4. Serum aldosterone and plasma renin activity were elevated but serum cortisol, 17 -hydroxy progesterone, ACTH, 24 hour urinary 17-ketosteroid, pregnanetriol, renal function and sonogram were normal and hence pseudohypoaldosteronism type 1 [pHA 1] was differentiated from congenital adrenal hyperplasia [CAH] and other metabolic disorders. These abnormalities were corrected with sodium chloride supplementation