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Presse Med. 1995 Sep 23;24(27):1243-8.

[Hyperaldosteronism sensitive to dexamethasone with adrenal adenoma. Clinical, biological and genetic study].

[Article in French]

Author information

1
Laboratoire de Génétique moléculaire, Hôpital Broussais, Paris.

Abstract

OBJECTIVES:

Dexamethasone-sensitive hyperaldosteronism is associated with early onset hypertension and primary hyperaldosteronism. Diagnosis is difficult but can be improved by genetic testing for the mutant gene.

METHODS:

We collected the clinical, biological and genetic elements observed in a family with dexamethasone-sensible hyperaldosteronism. Complete data were obtained in 5 adult subjects with the disease. Degree of hypertension varied, more so in the second generations as did hypokaliaemia and hyperaldosteronism. In affected patients, there was a 10 to 50 fold increase in urinary 18-OH components and 18 oxocortisol.

RESULTS:

Single dose (1.5 mg) dexamethasone led to a greater than 80% drop in aldosterone levels in the blood and urine, confirming the abnormal effect of ACTH on mineralocorticoid secretion. At the dose of 1 mg/d for 10 weeks, dexamethasone lowered mean 24-H ambulatory arterial pressure (11.8/9.6 mmHg) and corrected for the hypokaliaemia (+0.54 mmol/l) and the hyperaldosteronism (mean decrease -36% and -75% in blood and urine respectively). An adrenal tumour was identified in hyperplasic glands in two subjects and a micronodular formation was identified in two others. The specific molecular diagnosis of the disease was done with Southern blotting. Among the 18 families in 3 generations, 8 carried a 11 beta OHase-aldosterone synthetase chimeric gene. This mutation cosegregates with hormonal abnormalities and confirms the autosomal dominant inheritance of the disease.

CONCLUSION:

The simplicity and rapidity of genetic testing allows early diagnosis of this disease among families with early onset hypertension and associated hyperaldosteronism with or without adrenal hyperplasia and/or a tumoral formation.

PMID:
7501605
[Indexed for MEDLINE]

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