Interní Med. 2006; 8(1): 33-35

Gitelmanův syndrom

Ladislav Slováček1,2, doc. MUDr. Jan Čáp CSc3, MUDr. Věra Ceeová4
1 Klinika onkologie a radioterapie FN a LF UK Hradec Králové
2 Univerzita obrany, Fakulta vojenského zdravotnictví, katedra válečného vnitřního lékařství, Hradec Králové
3 I. interní klinika Fakultní nemocnice v Hradci Králové
4 II. interní klinika LF UK a Fakultní nemocnice, Hradec Králové

Autoři v kazuistice prezentují pacientku se vzácně se vyskytujícím Gitelmanovým syndromem, upozorňují na možnosti diagnostiky a zejména pak léčby tohoto onemocnění.

Published: March 1, 2006  Show citation

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Slováček L, Čáp J, Ceeová V. Gitelmanův syndrom. Interní Med. 2006;8(1):33-35.
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    References

    1. Berkman J, Reilly RF, Ellison DH. Mechanisms of thiazide-sensitive Na-Cl cotransporter dysfunction in Gitelmans syndrome (Abstract). J Am Soc Nephrol 1999; 10: 1291.
    2. Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB. Yale Gitelmans and Bartters Syndrome Collaborative Study Group: Gitelmans syndrome revisited: an evaluation of symptomes and health-related quality of life. Kidney Int. 2001; 59 (2): 710-717. Go to PubMed...
    3. Daniluk U, Kaczmarski M, Wasilewska J, Matuszewska E, Semeniuk J, Sidor K, Krasnow A. Bartters syndrome. Pol Merkuriusz Lek. 2004; 16 (95): 484-489.
    4. Ellison DH. The Thiazide-Senzitive Na-Cl Contransporter and Human Disease: Reemergence of an Old Player. J Am Soc Nephrol. 2003; 14: 538-540. Go to original source... Go to PubMed...
    5. Garcia Nieto V, Cantabrana A, Muller D, Claverie-Martin F. Chondrocalcinosis and hypomagnesemia in a patient with a new mutation in the gene of the thiazide-sensitive Na-Cl contranspoter. Nefrologia 2003; 23 (6): 504-509. Go to PubMed...
    6. Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans. Assoc. Am. Phys. 1966; 79: 221-235.
    7. Hansen KW, Mosekilde L. Gitelman syndrome. An overlooked disease with chronic hypomagnesemia and hypokalemia in adults. Ugeskr Laeger. 2003; 165 (11): 1123-1127. Go to PubMed...
    8. Jeck N, Konrad M, Peters M, Weber S, Bonzel K, Seyberth HW. Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter - Gitelman phenotype. Pediat. Res. 2000; 48: 754-758. Go to original source... Go to PubMed...
    9. Kolb I, Dimitrov Y, Caillard S, Hannedouche T. Tubular hypokalemia of genetic origin. Nephrologie 1999; 20 (6): 329-333. Go to PubMed...
    10. Kurtz I. Molecular pathogenesis of Bartters and Gitelmans syndrome. Kidney Int 1998; 54: 1396-1410. Go to original source... Go to PubMed...
    11. Lemmink HH, Knoers NV, Karolyi L, van Dijk H, Niaudet P, Antignac C et al. Novel mutations in thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal. Kidney Int. 1998; 54 (3): 720-730. Go to original source... Go to PubMed...
    12. Lin SH, Cheng HL, Hsu YJ, Halperin ML. Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride contransporter. Am J Kidney Dis. 2004; 43 (2): 304-312. Go to original source... Go to PubMed...
    13. Mastroianni N, Bettinelli A, Bianchetti M, Colussi G, De Fusco M, Sereni F, Ballabio A, Casari G. Novel molecular variants of the Na-Cl cotransporter gene are resonsible for Gitelman syndrome. Am J Hum Genet. 1996; 59 (5): 1019-1026.
    14. Meij I, Knoers N. Gitelman syndrome. Orphanet encyclopedia, 2003. http://www.orpha.net/data/patho/GB/uk-gitel.pdf
    15. Němečková J. Gitelmanův syndrom. Čes.-slov. Pediat. 2003; 58 (9): 560-562.
    16. Nijenhuis T, Vallon V, van der Kemp AW, Loffing J, Hoenderop JG, Bindels RJ. Enhanced passive Ca (2+) reabsorption and reduced Mg (2+) channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia. J Clin Invest. 2005; 115 (6): 1651-1658. Go to original source... Go to PubMed...
    17. Reiterová J, Ryšavá R, Merta M. Bartterův a Gitelmanův syndrom - příčiny vrozené hypokalemické metabolické alkalózy. Aktuality v nefrologii 2004: 10 (3).
    18. Sabath E, Meade P, Berkman J, de los Heros P, Moreno E, Bobadilla NA, Vazquez N, Ellison DH, Gamba G. Pathophysiology of functional mutations of thiazide-sensitive Na-Cl cotransporter in Gitelman disease. Am J Physiol Renal Physiol. 2004; 287 (2): 195-203. Go to original source... Go to PubMed...
    19. Shih-Hua L, Shiang JCH, Huang CHCH, Yang SS, et al. Phenotype and Genotype Analysis in Chinese Patients with Gitelmans Syndrome. J Clin Endocrinol Metab. 2005; 90 (5): 2500-2507. Go to original source... Go to PubMed...
    20. Schepkens H, Lameire N. Gitelmans syndrome: an overlooked cause of chronic hypokalemis and hypomagnesemia in adults. Acta Clin Belg. 2001; 56 (4): 248-254. Go to original source... Go to PubMed...
    21. Schurman SJ, Shoemaker LR. Bartter and Gitelman syndromes. Adv Pediatr. 2000; 47: 223-248. Go to PubMed...
    22. Táborský P, Schuck O. Gitelmanův syndrom - možná příčina hypokalémie. Prakt. Lék. 2000; 80 (1): 21-23.
    23. Vantyghem MC, Douillard C, Binaut R, Provot F. Bartters syndromes. Ann Endocrinol (Paris). 1999; 60 (6): 465-472. Go to PubMed...
    24. Yang CL, Angell J, Mitchell R, Ellison DH. WNK4 downregulates thiazide-sensitive NaCl transport (Abstract). J Am Soc Nephrol 2002, 13: 75A.

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