Genetic and pathophysiologic studies of a new kindred with glucocorticoid-suppressible hyperaldosteronism manifest in three generations.
This report describes investigations in a new kindred with dexamethasone-suppressible hyperaldosteronism affecting three successive generations. The presumptive diagnosis was first made in a 7-yr-old boy and led to the identification of the disorder in his mother and grandmother. Several other members of the family were investigated. Genotyping and HLA typing were also performed. To further explore the nature of this unusual disorder, urine from the three patients documented to have the syndrome was assayed for an aldosterone-stimulating factor recently reported to be found in patients with idiopathic aldosteronism. None of these patients showed measurable activity of such a urinary factor. The identification of members in three generations strongly supports the heritable nature of the disorder and probable autosomal dominant type of transmission. The absence of urinary aldosterone-stimulating factor in these patients further supports the tenet that the disorder is pathogenetically distinct from idiopathic aldosteronism, since both disorders are usually associated with bilateral adrenal hyperplasia.
D000328:Adult; D000450:Aldosterone / Q000097:blood / Q000652:urine; D002648:Child; D003907:Dexamethasone / Q000627:therapeutic use*; D005260:Female; D005838:Genotype; D006023:Glycoproteins; D006680:HLA Antigens / Q000032:analysis; D006801:Humans; D006929:Hyperaldosteronism / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011506:Proteins; D011507:Proteinuria; D012083:Renin / Q000097:blood
D006023:Glycoproteins; D006680:HLA Antigens; D011506:Proteins; C028798:aldosterone stimulating factor, human; D000450:Aldosterone; D003907:Dexamethasone; D012083:Renin