Pseudohypaldosteronism Type 1 and Hypertension Exacerbated in Pregnancy

Genetic Diseases of the Kidney

Volumn , Issue , 2009, Pages 301-312

  Geller, David S ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84882865510     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-449851-8.00018-8     Document Type: Chapter

References (50)

1. Arai K, Tsigos C, Suzuki Y, et al. No apparent mineralocorticoid receptor defect in a series of sporadic cases of pseudohypoaldosteronism. J. Clin. Endocrinol. Metab. 1995, 814-817.
2. Arriza JL, Weinberger C, Cerelli G, et al. Cloning of human mineralocorticoid receptor complementary DNA: structural and functional kinship with the glucocorticoid receptor. Science 1987, 268-275.
3. Benchimol C, Zavilowitz B, Satlin LM Developmental expression of ROMK mRNA in rabbit cortical collecting duct. Pediatr. Res. 2000, 46-52.
4. Berger S, Bleich M, Schmid W, et al. Mineralocorticoid receptor knockout mice: pathophysiology of Na+ metabolism. Proc. Natl Acad. Sci. USA, 1998, 9424-9429.
5. Bleich M, Warth R, Schmidt-Hieber M, Schulz-Baldes A, et al. Rescue of the mineralocorticoid receptor knock-out mouse. Pflugers Arch. 1999, 245-254.
6. Boulkroun S, Fay M, Zennaro MC, et al. Characterization of rat NDRG2 (N-Myc downstream regulated gene 2), a novel early mineralocorticoid-specific induced gene. J. Biol. Chem. 2002, 31506-31515.
7. Brilla CG Renin-angiotensin-aldosterone system and myocardial fibrosis. Cardiovasc. Res. 2000, 1-3.
8. Brilla CG, Pick R, Tan LB, Janicki JS, Weber KT Remodeling of the rat right and left ventricles in experimental hypertension. Circ. Res. 1990, 1355-1364.
9. Brilla CG, Weber KT Reactive and reparative myocardial fibrosis in arterial hypertension in the rat. Cardiovasc. Res. 1992, 671-677.
10. Chang SS, Grunder S, Hanukoglu A, et al. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat. Genet. 1996, 248-253.
11. Epstein M Aldosterone receptor blockade and the role of eplerenone: evolving perspectives. Nephrol. Dial. Transplant. 2003, 1984-1992.
12. Gekle M, Freudinger R, Mildenberger S, Schenk K, Marschitz I, Schramek H Rapid activation of Na+/H+-exchange in MDCK cells by aldosterone involves MAP-kinase ERK1/2. Pflugers Arch. 2001, 781-786.
13. Geller DS, Farhi A, Pinkerton N, et al. Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science 2000, 119-123.
14. Geller DS, Rodriguez-Soriano J, Vallo Boado A, et al. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nature Genetics 1998, 279-281.
15. Geller DS, Zhang J, Zennaro CM, et al. Genotype-phenotype correlations in autosomal dominant pseudohypoaldosteronism type 1. manuscript in preparation.
16. Grundy HM, Simpson SA, Tait JF Isolation of a highly active mineralocorticoid from beef adrenal extract. Nature 1952, 795-796.
17. Gunaruwan P, Schmitt M, Taylor J, Lee L, Struthers A, Frenneaux M Lack of rapid aldosterone effects on forearm resistance vasculature in health. J. Renin Angiotensin Aldosterone Syst. 2002, 123-125.
18. Hanukoglu A Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J. Clin. Endocrinol. Metab. 1991, 936-944.
19. Hentze MW, Kulozik AE A perfect message: RNA surveillance and nonsense-mediated decay. Cell 1999, 307-310.
20. Huey CL, Riepe FG, Sippell WG, Yu AS Genetic heterogeneity in autosomal dominant pseudohypoaldosteronism type I: Exclusion of claudin-8 as a candidate gene. Am. J. Nephrol. 2004, 483-487.
21. Juurlink DN, Mamdani MM, Lee DS, et al. Rates of hyperkalemia after publication of the Randomized Aldactone Evaluation Study. N. Engl. J. Med. 2004, 543-551.
22. Komesaroff PA Pseudohypoaldosteronism: options for consideration. Steroids 1995, 168-172.
23. Koppel H, Christ M, Yard BA, Bar PC, van der Woude FJ, Wehling M Nongenomic effects of aldosterone on human renal cells. J. Clin. Endocrinol. Metab. 2003, 1297-1302.
24. Le Menuet D, Viengchareun S, Penfornis P, Walker F, Zennaro MC, Lombes M Targeted oncogenesis reveals a distinct tissue-specific utilization of alternative promoters of the human mineralocorticoid receptor gene in transgenic mice. J. Biol. Chem. 2000, 7878-7886.
25. Lifton RP, Gharavi AG, Geller DS Molecular mechanisms of human hypertension. Cell 2001, 545-556.
26. Losel R, Schultz A, Boldyreff B, Wehling M Rapid effects of aldosterone on vascular cells: clinical implications. Steroids 2004, 575-578.
27. Moras D, Gronemeyer H The nuclear receptor ligand-binding domain: structure and function. Curr. Opin. Cell Biol. 1998, 384-391.
28. Morton JA The clinical usefulness of breast milk sodium in the assessment of lactogenesis. Pediatrics 1994, 802-806.
29. Mune T, Rogerson FM, Nikkila H, Agarwal AK, White PC Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase. Nat. Genet. 1995, 394-399.
30. Neville MC, Keller R, Seacat J, et al. Studies in human lactation: milk volumes in lactating women during the onset of lactation and full lactation. Am. J. Clin. Nutr. 1988, 1375-1386.
31. Nystrom AM, Bondeson ML, Skanke N, et al. A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1). J. Clin. Endocrinol. Metab. 2004, 227-231.
32. Pinon GM, Fagart J, Souque A, Auzou G, Vandewalle A, Rafestin-Oblin ME Identification of steroid ligands able to inactivate the mineralocorticoid receptor harboring the S810L mutation responsible for a severe form of hypertension. Mol. Cell Endocrinol. 2004, 181-188.
33. Pitt B, Remme W, Zannad F, et al. Eplerenone, a selective aldosterone blocker, in patients with left ventricular dysfunction after myocardial infarction. N. Engl. J. Med. 2003, 1309-1321.
34. Pitt B, Zannad F, Remme WJ, et al. The effect of spironolactone on morbidity and mortality in patients with severe heart failure. Randomized Aldactone Evaluation Study Investigators. N. Engl. J. Med. 1999, 709-717.
35. Rachmani R, Slavachevsky I, Amit M, et al. The effect of spironolactone, cilazapril and their combination on albuminuria in patients with hypertension and diabetic nephropathy is independent of blood pressure reduction: a randomized controlled study. Diabet. Med. 2004, 471-475.
36. Rafestin-Oblin ME, Souque A, Bocchi B, Pinon G, Fagart J, Vandewalle A The severe form of hypertension caused by the activating S810L mutation in the mineralocorticoid receptor is cortisone related. Endocrinology 2003, 528-533.
37. Riepe FG, Krone N, Morlot M, Ludwig M, Sippell WG, Partsch CJ Identification of a novel mutation in the human mineralocorticoid receptor gene in a German family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity. J. Clin. Endocrinol. Metab. 2003, 1683-1686.
38. Sarkar NN Mifepristone: bioavailability, pharmacokinetics and use-effectiveness. Eur. J. Obstet. Gynecol. Reprod. Biol. 2002, 113-120.
39. Sartorato P, Khaldi Y, Lapeyraque AL, et al. Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism. Mol. Cell Endocrinol. 2004, 119-125.
40. Sartorato P, Lapeyraque AL, Armanini D, et al. Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. J. Clin. Endocrinol. Metab. 2003, 2508-2517.
41. Sato A, Hayashi K, Naruse M, Saruta T Effectiveness of aldosterone blockade in patients with diabetic nephropathy. Hypertension 2003, 64-68.
42. Schulz-Baldes A, Berger S, Grahammer F, et al. Induction of the epithelial Na+ channel via glucocorticoids in mineralocorticoid receptor knockout mice. Pflugers Arch. 2001, 297-305.
43. Stowasser M, Gordon RD Primary aldosteronism - careful investigation is essential and rewarding. Mol. Cell Endocrinol. 2004, 33-39.
44. Tajima T, Kitagawa H, Yokoya S, et al. A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1. J. Clin. Endocrinol. Metab. 2000, 4690-4694.
45. Verrey F, Pearce D, Pfeiffer R, et al. Pleiotropic action of aldosterone in epithelia mediated by transcription and post-t-ranscription mechanisms. Kidney Int. 2000, 1277-1282.
46. Viemann M, Peter M, Lopez-Siguero JP, Simic-Schleicher G, Sippell WG Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds. J. Clin. Endocrinol. Metab. 2001, 2056-2059.
47. Warnock DG Liddle syndrome: genetics and mechanisms of Na+ channel defects. Am. J. Med. Sci. 2001, 302-307.
48. Zennaro MC, Borensztein P, Jeunemaitre X, Armanini D, Soubrier F No alteration in the primary structure of the mineralocorticoid receptor in a family with pseudohypoaldosteronism. J. Clin. Endocrinol. Metab. 1994, 32-38.
49. Zennaro MC, Farman N, Bonvalet JP, Lombes M Tissue-specific expression of alpha and beta messenger ribonucleic acid isoforms of the human mineralocorticoid receptor in normal and pathological states. J. Clin. Endocrinol. Metab. 1997, 1345-1352.
50. Zennaro M.C., Lombes M. Mineralocorticoid resistance. Trends Endocrinol. Metab. 2004, XX:264-270.