Monogenetische Hypertonie

monogenetische Hypertonie - Liddle-Syndrom - Gordon-Syndrom - Hyperaldosteronismus - Mineralokortikoidexzess

monogenic hypertension - Liddle syndrome - Gordon syndrome - hyperaldosteronism - mineralocorticoid excess

Literatur

• 1 Ferrari P, Lovati E, Frey F J. The role of the 11beta-hydroxysteroid dehydrogenase type 2 in human hypertension.  J Hypertens. 2000;  18 241-248
• 2 Geller D S, Farhi A, Pinkerton N, Fradley M, Moritz M, Spitzer A, Meinke G, Tsai F T, Sigler P B, Lifton R P. Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy.  Science. 2000;  289 119-123
• 3 Hansson J H, Schild L, Lu Y, Wilson T A, Gautschi I, Shimkets R, Nelson-Williams C, Rossier B C, Lifton R P. A De novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.  Proc Natl Acad Sci U S A. 1995;  92 11495-11499
• 4 Kahle K T, Wilson F H, Leng Q, Lalioti M D, O’Connell A D, Dong K, Rapson A K, MacGregor G G, Giebisch G, Hebert S C, Lifton R P. WNK4 regulates the balance between renal NaCl reabsorption and K+ secretion.  Nat Genet. 2003;  35 372-376
• 5 Lalioti M D, Zhang J, Volkman H M, Kahle K T, Hoffmann K E, Toka H R, Nelson-Williams C, Ellison D H, Flavell R, Booth C J, Lu Y, Geller D S, Lifton R P. Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule.  Nat Genet. 2006;  38 1124-1132
• 6 Lifton R P, Gharavi A G, Geller D S. Molecular mechanisms of human hypertension.  Cell. 2001;  104 545-556
• 7 Lifton R P, Dluhy R G, Powers M, Rich G M, Cook S, Ulick S, Lalouel J M. A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension.  Nature. 1992;  355 262-265
• 8 Luft F C. Monogenic hypertension: lessons from the genome.  Kidney Int. 2001;  60 381-390
• 9 Mune T, Rogerson F M, Nikkila H, Agarwal A K, White P C. Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase.  Nat Genet. 1995;  10 394-399
• 10 Rafestin-Oblin M E, 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;  144 528-533
• 11 Toka H R, Luft F C. Monogenic forms of human hypertension.  Semin Nephrol. 2002;  22 81-88
• 12 Wilson F H, Disse-Nicodeme S, Choate K A, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford D V, Lipkin G W, Achard J M, Feely M P, Dussol B, Berland Y, Unwin R J, Mayan H, Simon D B, Farfel Z, Jeunemaitre X, Lifton R P. Human hypertension caused by mutations in WNK kinases.  Science. 2001;  293 1107-1112