Información del artículo
Presentamos una fratria afecta de síndrome de Gitelman en la que se pone de manifiesto su variabilidad fenotípica. Así mismo se exponen los criterios diagnósticos de la entidad, su fisiopatología y las diferencias genéticas y clínicas con el síndrome de Bartter
Palabras clave:
Síndrome de Gitelman
Hipopotasemia
Hipomagnesemia
Hipocalciuria
A family with three offspring affected of Giltelman's syndrome is reported. The phenotypic variability of this entity is emphasized. Moreover, the diagnosis eriterial of the syndrome, phathophysiology, and genetics and clinical differences with Bartter's syndrome are stated
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BibliografÍa
[1.]
H.J. Gitelman, J.B. Graham, L.G. Wetl.
A new familial disorder characterized by hypokalemia and hypomagnesemia.
Trans Assoc Am Physicians, 79 (1966), pp. 221-223
[2.]
D.B. Simon, C. Nelson-Williams, M.J. Bia, et al.
Gitelman's variant of Bartter syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive NaCl cotransporter.
Nat Genet, 12 (1996), pp. 24-30
[3.]
H.H. Lemmink, L.P.W.J. Van Den Heuvel, H.A. Van Dijk, et al.
Linkage of Gitelman syndrome to the thiazide-sensitive sodiumchloride cotransporter gene with identification of mutations in Dutch families.
Pedriatr Nephrol, 10 (1996), pp. 403-407
[4.]
L. Károlyi, A. Ziegler, M. Pollak, et al.
Gitelman's syndrome is genetically distinc from other forms of Bartter's syndrome.
Pediatr Neprol, 10 (1996), pp. 551-554
[5.]
A. Bettinelli, M.G. Bianchetti, P. Borella.
Genetic heterogeneity in tubular hypomagnesemia-hypokalemia with hypocalcuria (Giteman's syndrome).
Kidney Int, 47 (1995), pp. 547-551
[6.]
A. Bettinelli, G. Vezzoli, G. Colussi, M.G. Bianchetti, F. Sereni, G. Casari.
Genotype-phenotype correlations in normotensive patients with primary renal tubular hypokalemic metabolic alkalosis.
J Nephrol, 11 (1998), pp. 61-69
[7.]
J. Rodríguez-Soriano.
Bartter and related syndromes: the puzzle is almost solved.
Pedriatr Nephrol, 12 (1998), pp. 315-327
[8.]
M. Bravo Mata, A. Alonso Martín, M. Fuster Siebert, M. Paz Fernández, J. Cocho De Juan.
Tubulopatía de Gitelman: déficit de transfer K/Mg.
An Esp Pedriatr, 37 (1992), pp. 413-415
[9.]
S.J. Scheinman, L.M. Guay-Woodford, R.V. Thakker, D.G. Warnock.
Genetic disorders of renal electrolyte transport.
N Engl J Med, 340 (1999), pp. 1177-1187
[10.]
T. Tsukamoto, T. Kobayashi, K. Kawamoto, M. Fukase, K. Chihara.
Possible discrimination of Gitelman's syndrome from Bartter's syndrome by clerance renal study: report of two cases.
Am J Kidney Dis, 25 (1995), pp. 637-641
[11.]
A. Köckerling, S.C. Reinalter, H.W. Seyberth.
Impaired response to furosemide in hyperprostaglandin E syndrome: evidence for tubular defect in the loop of Henle.
J Pediatr, 129 (1996), pp. 519-528
[12.]
J. Rodríguez-Soriano, A. Vallo, M. García-Fuentes.
Hypomagnesaemia of hereditary renal origin.
Pediatr Nephrol, 1 (1987), pp. 465-472
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