PÁGINA DEL RESIDENTE Reporte de caso y revisión breve Paciente con un caso poco frecuente de hta: pseudohipoaldosteronismo tipo 2 o síndrome de Gordon

Describimos el caso de una paciente con diagnóstico de hipertensión arterial (HTA) desde los 14 años de edad con frecuentes hospitalizaciones por crisis hipertensivas que no se lograban controlar con dosis crecientes de antihipertensivos. Se le realizaron múltiples estudios para HTA secundaria pero lo único anormal fue la presencia de hipercaliemia y acidosis metabólica. Con estos hallazgos se hizo la impresión diagnóstica de pseudohipoaldosteronismo tipo 2 o síndrome de Gordon y se instauró tratamiento con hidroclorotiazida en dosis crecientes con lo cual se lograron estabilizar las cifras tensionales y mejorar la hipercaliemia.

Abstract
We describe the case of a patient diagnosed with hypertension at age 14 with multiple hospitalizations for hypertensive crisis. Despite increasing doses of antihypertensive drugs, her blood pressure was not controlled. Attempts were made to rule out secondary hypertension, but to no avail, except for the presence of hyperkalemia and metabolic acidosis. With these results, the diagnostic impression was of Type 2 pseudohypoaldosteronism or Gordon’s syndrome. The patient was treated with thiazides at increasing doses, which succeeded in stabilizing her blood pressure and improving hyperkalemia.

1. Gordon, R. D., & Hodsman, G. P. The syndrome of hypertension and hyperkalaemia without renal failure: long term correction by thiazide diuretic. Scott Med J. 1986; 31: 43– 44.
2. Gordon RD. Syndrome of hypertension and hyperkalemia with normal glomerular filtration rate. Hypertension 1986; 8: 93–102.
3. Disse-Nicodeme S, Achard JM, Desitter I, Houot AM, Fournier A, Corvol P, Jeunemaitre X. A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. Am J Hum Genet. 2000; 67: 302–310.
4. Cope G, Golbang A, O’Shaughnessy KM. WNK kinases and the control of blood pressure. Pharmacol Ther. 2005 May;106(2):221-31
5. Xu B, English JM, Wilsbacher JL, Stippec S, Goldsmith EJ, Cobb MH. WNK1, a novel mammalian serine/threonine protein kinase lacking the catalytic lysine in subdomain II. J Biol Chem. 2000; 275(22): 16795– 16801.
6. Gamba G. Role of WNK kinases in regulating tubular salt and potassium transport and in the development of hypertension. Am J Physiol Renal Physiol.2005; 288: F245–F252
7. Kristopher T. Kahle, Frederick H. Wilson and Richard P. Lifton. Regulation of diverse ion transport pathways by WNK4 kinase: a novel molecular switch. Trends Endocrinol Metab. 2005; 16(3):98-103.
8. González-Núñez D, Poch E. Aldosterone: basic physiopathology and new mechanisms of action in the distal nephron. Nefrología. 2006; 26(3):291- 303.
9. Tsukita S, Furuse M. Claudin-based barrier in simple and stratified cellular sheets. Curr Opin Cell Biol. 2002 Oct;14(5):531-6.
10. Yamauchi K, Rai T, Kobayashi K, Sohara E, Suzuki T, Itoh T, Suda S, Hayama A, Sasaki S, Uchida S. Disease-causing mutant WNK4 increases paracellular chloride permeability and phosphorylates claudins. Proc Natl Acad Sci U S A. 2004; 101(13):4690-4.
11. Yang CL, Angell J, Mitchell R, Ellison DH. WNK kinases regulate thiazide-sensitive Na-Cl cotransport. J Clin Invest. 2003; 111: 1039– 1045.
12. Thorn CF1, Ellison DH, Turner ST, Altman RB, Klein TE. PharmGKB summary: Diuretics pathway, pharmacodynamics. Pharmacogenet Genomics. 2013; 23(8):449-53.
13. Kostakis ID, Tsoukalas NG, Aravantinos DC, Gkizis IG, Cholidou KG, Papadopoulos DP. Case Report: A Case Report of Gordon’s Syndrome in a 20-Year-Old Male with Free Me- dical Family History. Hellenic J Cardiol. 2013; 54(1):64-8.

Hipertensión arterial secundaria
pseudo- hipoaldosteronismo tipo 2
síndrome de Gordon
Secondary hypertension
pseudohypoaldosteronism type 2
Gordon syndrome