Literature DB >> 8825044

Variation of phenotype in patients with glucocorticoid remediable aldosteronism.

L J Gates1, A A MacConnachie, R P Lifton, N E Haites, N Benjamin.   

Abstract

Glucocorticoid remediable aldosteronism (GRA), an autosomal dominant cause of primary aldosteronism, has been described as resulting in severe hypertension with premature death from stroke. We describe two new large pedigrees which include subjects who have the abnormal chimaeric gene strongly linked to GRA. The majority of affected members, who have only mild hypertension and normal biochemistry, are clinically indistinguishable from patients with essential hypertension. It is therefore likely that this condition is underdiagnosed.

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Year:  1996        PMID: 8825044      PMCID: PMC1051807          DOI: 10.1136/jmg.33.1.25

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  14 in total

1.  Amiloride in the treatment of primary hyperaldosteronism and essential hypertension.

Authors:  D Kremer; K Boddy; J J Brown; D L Davies; R Fraser; A F Lever; J J Morton; J I Robertson
Journal:  Clin Endocrinol (Oxf)       Date:  1977-08       Impact factor: 3.478

2.  Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase.

Authors:  R P Lifton; R G Dluhy; M Powers; G M Rich; M Gutkin; F Fallo; J R Gill; L Feld; A Ganguly; J C Laidlaw
Journal:  Nat Genet       Date:  1992-09       Impact factor: 38.330

3.  A kindred with familial glucocorticoid suppressible aldosteronism.

Authors:  G S Giebink; R W Gotlin; E G Biglieri; F H Katz
Journal:  J Clin Endocrinol Metab       Date:  1973-04       Impact factor: 5.958

4.  Isolation and identification of 18-hydroxycortisol from the urine of patients with primary aldosteronism.

Authors:  M D Chu; S Ulick
Journal:  J Biol Chem       Date:  1982-03-10       Impact factor: 5.157

5.  A new form of congenital adrenal hyperplasia.

Authors:  M I New; R E Peterson
Journal:  J Clin Endocrinol Metab       Date:  1967-02       Impact factor: 5.958

6.  Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone.

Authors:  D J Sutherland; J L Ruse; J C Laidlaw
Journal:  Can Med Assoc J       Date:  1966-11-26       Impact factor: 8.262

7.  The chimeric gene linked to glucocorticoid-suppressible hyperaldosteronism encodes a fused P-450 protein possessing aldosterone synthase activity.

Authors:  K Miyahara; T Kawamoto; Y Mitsuuchi; K Toda; H Imura; R D Gordon; Y Shizuta
Journal:  Biochem Biophys Res Commun       Date:  1992-12-15       Impact factor: 3.575

8.  Biosynthesis of 18-oxocortisol by aldosterone-producing adrenal tissue.

Authors:  S Ulick; M D Chu; M Land
Journal:  J Biol Chem       Date:  1983-05-10       Impact factor: 5.157

9.  A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension.

Authors:  R P Lifton; R G Dluhy; M Powers; G M Rich; S Cook; S Ulick; J M Lalouel
Journal:  Nature       Date:  1992-01-16       Impact factor: 49.962

10.  Genetic and pathophysiologic studies of a new kindred with glucocorticoid-suppressible hyperaldosteronism manifest in three generations.

Authors:  A Ganguly; C E Grim; J Bergstein; R D Brown; M H Weinberger
Journal:  J Clin Endocrinol Metab       Date:  1981-11       Impact factor: 5.958

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  2 in total

Review 1.  Investigation of hypertension and the recognition of monogenic hypertension.

Authors:  D V Milford
Journal:  Arch Dis Child       Date:  1999-11       Impact factor: 3.791

Review 2.  Genetics of the mineralocorticoid system in primary hypertension.

Authors:  Paolo Ferrari
Journal:  Curr Hypertens Rep       Date:  2002-02       Impact factor: 5.369

  2 in total

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