Seminars in Nephrology
Volume 30, Issue 4 , Pages 387-394 , July 2010

Clinical Evaluation of Mendelian Hypertensive and Hypotensive Disorders

  • David S. Geller, MD, PhD

      Affiliations

    • Corresponding Author InformationAddress reprint requests to David S. Geller, Section of Nephrology, Yale University School of Medicine, New Haven, CT 06520-8029

References 

  1. Lifton RP, Dluhy RG, Powers M, Rich GM, Cook S, Ulick S, et al. A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature. 1992;355:262–265
  2. Mantero F, Mattarello MJ, Albiger NM. Detecting and treating primary aldosteronism: primary aldosteronism. Exp Clin Endocrinol Diabetes. 2007;115:171–174
  3. Dluhy RG, Anderson B, Harlin B, Ingelfinger J, Lifton R. Glucocorticoid-remediable aldosteronism is associated with severe hypertension in early childhood. J Pediatr. 2001;138:715–720
  4. Litchfield WR, New MI, Coolidge C, Lifton RP, Dluhy RG. Evaluation of the dexamethasone suppression test for the diagnosis of glucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab. 1997;82:3570–3573
  5. Jeunemaitre X, Bassilana F, Persu A, Dumont C, Champigny G, Lazdunski M, et al. Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome. J Hypertens. 1997;15:1091–1100
  6. Botero-Velez M, Curtis JJ, Warnock DG. Brief report: Liddle's syndrome revisited—a disorder of sodium reabsorption in the distal tubule. N Engl J Med. 1994;330:178–181
  7. 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;10:394–399
  8. Dave-Sharma S, Wilson RC, Harbison MD, Newfield R, Azar MR, Krozowski ZS, et al. Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess. J Clin Endocrinol Metab. 1998;83:2244–2254
  9. Geller DS, Farhi A, Pinkerton N, Fradley M, Moritz M, Spitzer A, et al. Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science. 2000;289:119–123
  10. Mayan H, Vered I, Mouallem M, Tzadok-Witkon M, Pauzner R, Farfel Z. Pseudohypoaldosteronism type II: marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density. J Clin Endocrinol Metab. 2002;87:3248–3254
  11. Throckmorton DC, Bia MJ. Pseudohypoaldosteronism: case report and discussion of the syndrome. Yale J Biol Med. 1991;64:247–254
  12. Gereda JE, Bonilla-Felix M, Kalil B, Dewitt SJ. Neonatal presentation of Gordon syndrome. J Pediatr. 1996;129:615–617
  13. 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;73:936–944
  14. Kerem E, Bistritzer T, Hanukoglu A, Hofmann T, Zhou Z, Bennett W, et al. Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism. N Engl J Med. 1999;341:156–162
  15. Geller DS, Rodriguez-Soriano J, Vallo Boado A, Schifter S, Bayer M, Chang SS, et al. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet. 1998;19:279–281
  16. Geller DS, Zhang J, Zennaro CM, Rodriguez-Soriano J, Vallo Boado A, Rayniere S, et al. Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. J Am Soc Nephrol. 2006;17:1429–1436
  17. Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet. 1996;13:183–188
  18. Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A, Trachtman H, et al. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet. 1996;14:152–156
  19. Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R, et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet. 1997;17:171–178
  20. Fukuyama S, Hiramatsu M, Akagi M, Higa M, Ohta T. Novel mutations of the chloride channel Kb gene in two Japanese patients clinically diagnosed as Bartter syndrome with hypocalciuria. J Clin Endocrinol Metab. 2004;89:5847–5850
  21. Birkenhager R, Otto E, Schurmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet. 2001;29:310–314
  22. Schlingmann KP, Konrad M, Jeck N, Waldegger P, Reinalter SC, Holder M, et al. Salt wasting and deafness resulting from mutations in two chloride channels. N Engl J Med. 2004;350:1314–1319
  23. Pollak MR, Chou YH, Marx SJ, Steinmann B, Cole DE, Brandi ML, et al. Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism (Effects of mutant gene dosage on phenotype). J Clin Invest. 1994;93:1108–1112
  24. Watanabe S, Fukumoto S, Chang H, Takeuchi Y, Hasegawa Y, Okazaki R, et al. Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet. 2002;360:692–694
  25. Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians. 1966;79:221–235
  26. Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet. 1996;12:24–30
  27. Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB. Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. Kidney Int. 2001;59:710–717

PII: S0270-9295(10)00097-5

doi: 10.1016/j.semnephrol.2010.06.005

Seminars in Nephrology
Volume 30, Issue 4 , Pages 387-394 , July 2010

Article Tools