Phenotypic and genetic heterogeneity of familial hyperkalaemic hypertension (Gordon syndrome)

Clinical and Experimental Pharmacology & Physiology
J M AchardX Jeunemaitre

Abstract

1. Familial hyperkalaemic hypertension (FHH), also called pseudohypoaldosteronism type II (PHA2) or Gordon syndrome, is a rare Mendelian-form of low-renin hypertension. The first cases of FHH were reported approximately 30 years ago and they described the peculiar biochemical abnormalities (i.e. hyperkalaemia and hyperchloraemic acidosis despite a normal glomerular filtration rate). 2. Since then, more than 90 single cases and families have been reported in the literature. These various reports show marked differences in phenotype. 3. Our group has now collected 14 unrelated pedigrees originating from different parts of France and Europe. We confirm the large variations in the age of discovery and in the severity of the biochemical abnormalities from one individual to another and from one family to another one. 4. Blood pressure levels have no significant relationship with hyperkalaemia or hyperchloraemia, but there is a positive relationship with age, as in the normal population. 5. Analyses of clinical features and Mendelian segregation in our families demonstrate autosomal-dominant inheritance, as expected from the literature. 6. Efforts have been made in the past years to unravel the gene responsible for the disease. Until ...Continue Reading

References

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Citations

Apr 6, 2005·Trends in Endocrinology and Metabolism : TEM·Richard D GordonJohn W Funder
Dec 23, 2003·Best Practice & Research. Clinical Endocrinology & Metabolism·David G Warnock
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Aug 28, 2014·The Journal of Membrane Biology·Bernat ElviraFlorian Lang
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