PMID: 9431844Feb 12, 1998Paper

Apparent mineralocorticoid excess in a Brazilian kindred: hypertension in the heterozygote state

Journal of Hypertension
A LiP M Stewart

Abstract

Apparent mineralocorticoid excess (AME) is a cause of low-renin, low-aldosterone hypertension in which cortisol acts as a mineralocorticoid. The condition reflects an inability to inactivate cortisol to cortisone due to defective activity of the type 2 isozyme of 11beta-hydroxysteroid dehydrogenase (11beta-HSD2). Homozygous mutations in 11beta-HSD2 gene in patients with AME have been described. A 7-year-old Brazilian girl had previously been found to have AME. Her father recently presented with mineralocorticoid hypertension at age 38 years. To describe the clinical details, to perform steroid analyses and to assess the molecular basis for the hypertension in this kindred. The 11beta-HSD2 gene was amplified from genomic DNA by the polymerase chain reaction and sequenced by direct chain-termination sequencing on an automatic DNA sequencer. The sequencing results were validated by restriction-site polymorphism. The mutant 11beta-HSD2 protein was expressed in Chinese hamster ovary polyoma cells and enzymatic activity was assessed by metabolizing cortisol in vitro. Sequence analysis of genomic DNA revealed a novel C1061T point mutation in exon V of the human 11beta-HSD2 gene, resulting in an amino acid substitution of alanine by va...Continue Reading

References

Nov 1, 1979·The Journal of Clinical Endocrinology and Metabolism·S UlickM I New
Jul 1, 1987·Clinical Endocrinology·J DiMartino-NardiM I New
Jul 1, 1988·The Journal of Clinical Investigation·P M StewartC R Edwards
Sep 1, 1995·Nature Genetics·R D Gordon
Nov 1, 1994·Molecular and Cellular Endocrinology·A L AlbistonZ S Krozowski
Jan 20, 1994·The New England Journal of Medicine·M Botero-VelezD G Warnock

❮ Previous
Next ❯

Citations

Jan 31, 2007·Naunyn-Schmiedeberg's Archives of Pharmacology·Dieter RosskopfRafael Schäfers
Apr 28, 1999·Lancet·P M Stewart
Jan 3, 2003·Psychoneuroendocrinology·M BartelsE J C de Geus
Apr 18, 2001·Trends in Endocrinology and Metabolism : TEM·R C WilsonM I New
Aug 5, 1998·Kidney International·D Cusi, G Bianchi
Apr 12, 2000·Kidney International·P Ferrari, Z Krozowski
Jun 26, 2001·Kidney International·F C Luft
Jul 1, 1999·The Journal of Cardiovascular Nursing·S K Ambler, R D Brown
Jan 28, 2005·Kidney International·Tracy A WilliamsNicola Glorioso
Mar 3, 2007·Applied Physiology, Nutrition, and Metabolism = Physiologie Appliquée, Nutrition Et Métabolisme·Margarita Terán-García, Claude Bouchard
Jun 24, 2010·Physiological Genomics·Jonathan R ManningJohn J Mullins
Jun 3, 2005·Clinical Medicine & Research·Friedrich C Luft
Oct 27, 1999·Proceedings of the National Academy of Sciences of the United States of America·M I New, R C Wilson
Aug 26, 1998·Proceedings of the National Academy of Sciences of the United States of America·R C WilsonM I New
Jun 19, 2007·Clinical Endocrinology·Paolo MulateroFranco Veglio
Sep 19, 2006·Best Practice & Research. Clinical Endocrinology & Metabolism·Fabian Hammer, Paul M Stewart
Sep 19, 2006·Best Practice & Research. Clinical Endocrinology & Metabolism·Michael Stowasser, Richard D Gordon
Jul 27, 2001·Best Practice & Research. Clinical Endocrinology & Metabolism·J W Tomlinson, P M Stewart
Jan 27, 2009·Arquivos brasileiros de endocrinologia e metabologia·Fernanda Borchers CoeliMaricilda Palandi de-Mello
Mar 12, 2005·Arquivos brasileiros de endocrinologia e metabologia·Mario PalermoPaul M Stewart
Apr 5, 2018·American Journal of Hypertension·Cristian A CarvajalCarlos E Fardella
Feb 2, 2011·Hypertension·Matthew A BaileyJohn J Mullins
May 15, 2007·Current Opinion in Pediatrics·Scott S Williams
Oct 13, 2006·Journal of the American Society of Nephrology : JASN·Gilles MorineauPaolo Ferrari
Aug 18, 2005·American Journal of Physiology. Regulatory, Integrative and Comparative Physiology·Janice M PatersonJohn J Mullins
Mar 22, 2000·Journal of Hypertension·P FerrariF J Frey
Jan 14, 1999·Journal of Hypertension·F C Luft
Apr 16, 2011·Current Opinion in Endocrinology, Diabetes, and Obesity·Zaki Hassan-Smith, Paul M Stewart
Jun 6, 2003·The Journal of Clinical Endocrinology and Metabolism·Cristian A CarvajalCarlos E Fardella
Jan 12, 2001·Journal of Pediatric Endocrinology & Metabolism : JPEM·B I Cerame, M I New
Mar 17, 2007·Current Hypertension Reports·Pasquale Strazzullo, Ferruccio Galletti
Jul 31, 1998·American Journal of Human Genetics·A LiP M Stewart
Feb 12, 2004·The Medical Clinics of North America·Friedrich C Luft
Nov 17, 2009·Biochimica Et Biophysica Acta·Paolo Ferrari

❮ Previous
Next ❯

Related Concepts

Related Feeds

BK Virus Infection

BK virus infection is a significant complication of modern immunosuppression used in kidney transplantation. Discover the latest research on BK virus infection here.