Hybrid gene or hybrid steroids in the detection and screening for familial hyperaldosteronism type I

Clinical and Experimental Pharmacology & Physiology
M StowasserR D Gordon

Abstract

1. Early diagnosis of Familial Hyperaldosteronism Type I (FH-I, glucocorticoid-suppressible hyperaldosteronism) in asymptomatic, affected individuals is essential if death from stroke is to be prevented. 2. In 21 patients with FH-I (presence of the causative hybrid 11 beta-hydroxylase/aldosterone synthase gene confirmed by Southern blot testing), various biochemical parameters were compared as possible screening tests. Hypokalaemia and elevated plasma aldosterone each detected only two (10%) of the affected individuals. 3. Plasma renin activity 19 (90%) and aldosterone/renin ratio 18 (86%) were more reliable but not free from false negatives. 4. Levels of the urinary 'hybrid' steroid, 18-oxocortisol, were elevated (P < 0.01) in all 15 patients tested (138.2 +/- 17.4 micrograms/g creatinine, range 41.6 +/- 281.0 micrograms/g) with no overlap when compared with 11 normals (9.7 +/- 1.3 micrograms/g, range 2.8-17.4 micrograms/g). 5. We conclude that measurement of urinary 'hybrid' steroids is probably the most rapid and reliable biochemical screening test currently available for FH-I, with confirmation dependent on demonstration of the hybrid gene by genetic techniques.

References

Nov 1, 1994·Clinical and Experimental Pharmacology & Physiology·R D GordonM Stowasser
Jul 23, 1994·Lancet·R D Gordon

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Citations

Sep 27, 2001·World Journal of Surgery·R D GordonJ C Rutherford
Sep 22, 2000·The Journal of Clinical Endocrinology and Metabolism·M StowasserR D Gordon
Jun 10, 2020·The Journal of Clinical Endocrinology and Metabolism·Zeng GuoMichael Stowasser

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