Poliquistosis renal autosómica dominante
Necesidad de diagnóstico y tratamiento oportuno
Palabras clave:
RIÑÓN POLIQUÍSTICO AUTOSÓMICO DOMINANTE
Resumen
La poliquistosis renal autosómica dominante es la enfermedad hereditaria renal más frecuente. Actualmente se están realizando claros avances en el intento de enlentecer su progresión. Con la evidencia actual es aconsejable la detección y el tratamiento precoz de la hipertensión arterial, de los factores de riesgo cardiovascular y de las complicaciones renales y extrarrenales. Se deben aplicar todas las medidas de nefroprevención para evitar la progresión de la enfermedad renal crónica y ofrecer de manera coordinada, en caso de ser necesario, el acceso a todas las técnicas de reemplazo de la función renal, incluido el trasplante renal. Si bien no hay evidencia acerca de la medicación antihipertensiva ideal, el uso de inhibidores de la enzima convertidora de la angiotensina y/o antagonistas de los receptores de la angiotensina II, parece recomendable.
Citas
(1) Fick GM, Gabow PA. Hereditary and acquired cystic disease of the kidney. Kidney Int 1994; 46(4):951-64.
(2) Chauveau D, Grimbert P, Grünfeld JP. Nephropathies héreditaires. En: Encyclopédie Médico-Chirurgicale Néphrologie-Urologie. Paris: Elsevier, 1997: 18-050-A-10-19.
(3) Dalgaard OZ, Nørby S. Autosomal dominant polycystic kidney disease in the 1980’s. Clin Genet 1989; 36(5):320-5.
(4) Simon P, Le Goff JY, Ang KS, Charasse C, Le Cacheux P, Cam G. Epidemiologic data, clinical and prognostic features of autosomal dominant polycystic kidney disease in a French region. Nephrologie 1996; 17(2):123-30.
(5) Torres VE, Watson ML. Polycystic kidney disease: antiquity to the 20th century. Nephrol Dial Transplant 1998; 13(10):2690-6.
(6) Neumann HP, Jilg C, Bacher J, Nabulsi Z, Malinoc A, Hummel B, et al; Else-Kroener-Fresenius-ADPKD-Registry. Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany. Nephrol Dial Transplant 2013; 28(6):1472-87.
(7) Tobal D, González Martínez F, Gadola L, González C, Noboa O. Aumento progresivo de la edad de ingreso a terapia de reemplazo renal en la poliquistosis renal. En: Congreso Uruguayo de Nefrología, Montevideo 2012.
(8) Torres VE, Harris PC. Autosomal dominant polycystic kidney disease. En: Floege J, Johnson R, Feehally J, eds. Comprehensive clinical nephrology. 4 ed. St Louis: Elsevier-Saunders, 2010.
(9) Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet 2007; 369(9569): 1287-301.
(10) Somlo S, Torres VE, Caplan MJ. Autosomal dominant polycystic kidney Disease. In: Alpern RJ, Moe OW, Caplan M, eds. Seldin and Giebisch’s the kidney physiology and pathophysiology. 5 ed. London: Academic Press-Elsevier, 2013:2645-88.
(11) Pazour GJ. Intraflagellar transport and cilia-dependent renal disease: the ciliary hypothesis of polycystic kidney disease. J Am Soc Nephrol 2004; 15(10):2528-36.
(12) Rapoport J. Autosomal dominant polycystic kidney disease: pathophysiology and treatment. QJM 2007; 100(1):1-9.
(13) Badano JL, Mitsuma N, Beales PL, Katsanis N. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 2006; 7:125-48.
(14) Badano JL, Katsanis N. Life without centrioles: cilia in the spotlight. Cell 2006; 125(7):1228-30.
(15) Patel V, Chowdhury R, Igarashi P. Advances in the pathogenesis and treatment of polycystic kidney disease. Curr Opin Nephrol Hypertens 2009; 18(2):99-106.
(16) Wilson PD. Polycystic kidney disease: new understanding in the pathogenesis. Int J Biochem Cell Biol 2004; 36(10):1868-73.
(17) Wilson PD, Goilab B. Cystic disease of the kidney. Annu Rev Pathol Mech Dis 2007; 2:341-68.
(18) Wilson PD. Polycystic kidney disease. N Engl J Med 2004; 350(2):151-64.
(19) Ong AC, Harris PC. Molecular pathogenesis of ADPKD: the polycystin complex gets complex. Kidney Int 2005; 67(4):1234-47.
(20) Kotsis F, Boehlke C, Kuehn EW. The ciliary flow sensor and polycystic kidney disease. Nephrol Dial Transplant 2013; 28(3):518-26.
(21) Takakura A, Contrino L, Zhou X, Bonventre JV, Sun Y, Humphreys BD, Zhou J. Renal injury is a third hit promoting rapid development of adult polycystic kidney disease. Hum Mol Genet 2009; 18(14):2523-31.
(22) Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, et al. Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol 2009; 20(1):205-12.
(23) Torra Balcells R, Ars Criach E. Molecular diagnosis of autosomal dominant polycystic kidney disease. Nefrologia 2011; 31(1):35-43.
(24) Guay-Woodford LM, Knoers N VAM. Clinical applications of genetics. En: Lifton RP, Somlo S, Giebisch GH, Seldin DW, eds. Genetic diseases of the kidney. Burlington, MA: Academic Press-Elsevier, 2009:25-38.
(25) Bajwa ZH, Gupta S, Warfield CA, Steinman TI. Pain management in polycystic kidney disease. Kidney Int 2001; 60(5):1631-44.
(26) Savaj S, Parvin M, Savoj J. Massive proteinuria and autosomal dominant polycystic kidney disease: a rare coincidence. Iran J Kidney Dis 2012; 6(1):73-6.
(27) Elhassan E, Masoumi A, Schrier RW. Progress on Autosomal Dominant Polycystic Kidney Disease. Arab J Nephrol Transplant 2009; 2(2):27-44.
(28) Obermüller N, Kränzlin B, Blum WF, Gretz N, Witzgall R. An endocytosis defect as a possible cause of proteinuria in polycystic kidney disease. Am J Physiol Renal Physiol 2001; 280(2):F244-53.
(29) Bennett WM, Elzinga L, Pulliam JP, Rashad AL, Barry JM. Cyst fluid antibiotic concentrations in autosomal-dominant polycystic kidney disease. Am J Kidney Dis 1985; 6(6):400-4.
(30) Stoller ML, Meng MV, eds. Urinary stone disease: the practical guide to medical and surgical management. Totowa, NJ: Humana Press, 2007.
(31) Torres VE, Erickson SB, Smith LH, Wilson DM, Hattery RR, Segura JW. The association of nephrolithiasis and autosomal dominant polycystic kidney disease. Am J Kidney Dis 1988; 11(4):318-25.
(32) Irazabal MV, Torres VE. Poliquistosis renal autosómica dominante. Nefrología 2011; 2(Supl 1):38-51.
(33) Harris PC, Bae KT, Rossetti S, Torres VE, Grantham JJ, Chapman AB, et al. Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 2006; 17(11):3013-9.
(34) Mao Z, Xie G, Ong AC. Metabolic abnormalities in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 2014 Mar 2. Epub ahead of print
(35) Sans Atxer L, Roca-Cusachs A, Torra R, Calero F, Arias P, Ballarin J, et al. Relación entre el tama;o renal y el perfil de presión arterial en pacientes con poliquistosis renal autosómica dominante sin insuficiencia renal. Nefrología 2010; 30(5):567-72.
(36) Tobal D, Larreborges P, Mimbacas C, Chichet A, Duque S, Caorsi H. Poliquistosis Renal en un grupo de 43 pacientes. En. Congreso Uruguayo de Nefrología, Montevideo 2007.
(37) Seeman T, Sikut M, Konrad M, Vondrichová H, Janda J, Schärer K. Blood pressure and renal function in autosomal dominant polycystic kidney disease. Pediatr Nephrol 1997; 11(5):592-6.
(38) Schrier RW. Renal volume, renin-angiotensin-aldosterone system, hypertension, and left ventricular hypertrophy in patients with autosomal dominant polycystic kidney disease. J Am Soc Nephrol 2009; 20(9):1888-93.
(39) Wadei HM, Textor SC. The role of the kidney in regulating arterial blood pressure. Nat Rev Nephrol 2012; 8(10):602-9.
(40) Ecder T, Schrier RW. Cardiovascular abnormalities in autosomal-dominant polycystic kidney disease. Nat Rev Nephrol 2009; 5(4):221-8.
(41) Melander C, Joly D, Knebelmann B. Autosomal dominant polycystic kidney disease: light at the end of the tunnel?. Nephrol Ther 2010; 6(4):226-31.
(42) Patch C, Charlton J, Roderick PJ, Gulliford MC. Use of antihypertensive medications and mortality of patients with autosomal dominant polycystic kidney disease: a population-based study. Am J Kidney Dis 2011; 57(6):856-62.
(43) Orskov B, Rømming Sørensen V, Feldt-Rasmussen B, Strandgaard S. Improved prognosis in patients with autosomal dominant polycystic kidney disease in Denmark. Clin J Am Soc Nephrol 2010; 5(11):2034-9.
(44) Pirson Y. Progrès cliniques et théraputics dans la polykystose rénal e autosomique dominante. En: Lesavre P, Drüeke T, Legendre C, Niaudet P. Actualités néprologiques Jean Hamburger: Hôpital Necker. Paris: Flammarion Médecine-Sciences, 2006:
(45) Luciano RL, Dahl NK. Extra-renal manifestations of autosomal dominant polycystic kidney disease (ADPKD): considerations for routine screening and management. Nephrol Dial Transplant 2014; 29(2):247-54.
(46) Grantham JJ. Clinical practice: autosomal dominant polycystic kidney disease. N Engl J Med 2008; 359(14): 1477-85.
(47) Brosnahan GM. Volume progression in polycystic kidney disease. N Engl J Med 2006; 355(7):733; author reply 733-4.
(48) Tobal D, Olascoaga A, Rodríguez Parodi M, Malacrida L, Petraglia A, Noboa O. Poliquistosis renal autosómica dominante: volumen renal y función renal. En: Congreso Uruguayo de Nefrología, Montevideo 2009.
(49) HALT PKD Study Group, Perrone RD, Abebe KZ, Schrier RW, Chapman AB, Torres VE, Bost J, et al.Cardiac magnetic resonance assessment of left ventricular mass in autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol 2011; 6(10):2508-15.
(50) Helal I. Autosomal dominant polycystic kidney disease: new insights into treatment. Saudi J Kidney Dis Transpl 2013; 24(2):230-4.
(51) TEMPO 3:4 Trial Investigators, Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Grantham JJ, Higashihara E, et al. Tolvaptan in patients with autosomal dominant polycystic kidney disease. N Engl J Med 2012; 367(25):2407-18.
(52) Hadimeri H, Johansson AC, Haraldsson B, Nyberg G. CAPD in patients with autosomal dominant polycystic kidney disease. Perit Dial Int 1998; 18(4):429-32.
(53) Perrone RD, Ruthazer R, Terrin NC. Survival after end-stage renal disease in autosomal dominant polycystic kidney disease: contribution of extrarenal complications to mortality. Am J Kidney Dis 2001; 38(4):777-84.
(54) Pirson Y, Christophe JL, Goffin E. Outcome of renal replacement therapy in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 1996; 11(Suppl 6):24-8.
(55) Stiasny B, Ziebell D, Graf S, Hauser IA, Schulze BD. Clinical aspects of renal transplantation in polycystic kidney disease. Clin Nephrol 2002; 58(1):16-24.
(56) Orihuela L, Curi L, Orihuela S, Tobal D, González Martínez F. Características y evolución de pacientes con poliquistosis renal y transplante renal. En: XVI Congreso de la Sociedad Latinoamericana de Nefrología e Hipertensión Arterial, Cartagena de Indias, Colombia 18-21 abril 2012.
(2) Chauveau D, Grimbert P, Grünfeld JP. Nephropathies héreditaires. En: Encyclopédie Médico-Chirurgicale Néphrologie-Urologie. Paris: Elsevier, 1997: 18-050-A-10-19.
(3) Dalgaard OZ, Nørby S. Autosomal dominant polycystic kidney disease in the 1980’s. Clin Genet 1989; 36(5):320-5.
(4) Simon P, Le Goff JY, Ang KS, Charasse C, Le Cacheux P, Cam G. Epidemiologic data, clinical and prognostic features of autosomal dominant polycystic kidney disease in a French region. Nephrologie 1996; 17(2):123-30.
(5) Torres VE, Watson ML. Polycystic kidney disease: antiquity to the 20th century. Nephrol Dial Transplant 1998; 13(10):2690-6.
(6) Neumann HP, Jilg C, Bacher J, Nabulsi Z, Malinoc A, Hummel B, et al; Else-Kroener-Fresenius-ADPKD-Registry. Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany. Nephrol Dial Transplant 2013; 28(6):1472-87.
(7) Tobal D, González Martínez F, Gadola L, González C, Noboa O. Aumento progresivo de la edad de ingreso a terapia de reemplazo renal en la poliquistosis renal. En: Congreso Uruguayo de Nefrología, Montevideo 2012.
(8) Torres VE, Harris PC. Autosomal dominant polycystic kidney disease. En: Floege J, Johnson R, Feehally J, eds. Comprehensive clinical nephrology. 4 ed. St Louis: Elsevier-Saunders, 2010.
(9) Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet 2007; 369(9569): 1287-301.
(10) Somlo S, Torres VE, Caplan MJ. Autosomal dominant polycystic kidney Disease. In: Alpern RJ, Moe OW, Caplan M, eds. Seldin and Giebisch’s the kidney physiology and pathophysiology. 5 ed. London: Academic Press-Elsevier, 2013:2645-88.
(11) Pazour GJ. Intraflagellar transport and cilia-dependent renal disease: the ciliary hypothesis of polycystic kidney disease. J Am Soc Nephrol 2004; 15(10):2528-36.
(12) Rapoport J. Autosomal dominant polycystic kidney disease: pathophysiology and treatment. QJM 2007; 100(1):1-9.
(13) Badano JL, Mitsuma N, Beales PL, Katsanis N. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 2006; 7:125-48.
(14) Badano JL, Katsanis N. Life without centrioles: cilia in the spotlight. Cell 2006; 125(7):1228-30.
(15) Patel V, Chowdhury R, Igarashi P. Advances in the pathogenesis and treatment of polycystic kidney disease. Curr Opin Nephrol Hypertens 2009; 18(2):99-106.
(16) Wilson PD. Polycystic kidney disease: new understanding in the pathogenesis. Int J Biochem Cell Biol 2004; 36(10):1868-73.
(17) Wilson PD, Goilab B. Cystic disease of the kidney. Annu Rev Pathol Mech Dis 2007; 2:341-68.
(18) Wilson PD. Polycystic kidney disease. N Engl J Med 2004; 350(2):151-64.
(19) Ong AC, Harris PC. Molecular pathogenesis of ADPKD: the polycystin complex gets complex. Kidney Int 2005; 67(4):1234-47.
(20) Kotsis F, Boehlke C, Kuehn EW. The ciliary flow sensor and polycystic kidney disease. Nephrol Dial Transplant 2013; 28(3):518-26.
(21) Takakura A, Contrino L, Zhou X, Bonventre JV, Sun Y, Humphreys BD, Zhou J. Renal injury is a third hit promoting rapid development of adult polycystic kidney disease. Hum Mol Genet 2009; 18(14):2523-31.
(22) Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, et al. Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol 2009; 20(1):205-12.
(23) Torra Balcells R, Ars Criach E. Molecular diagnosis of autosomal dominant polycystic kidney disease. Nefrologia 2011; 31(1):35-43.
(24) Guay-Woodford LM, Knoers N VAM. Clinical applications of genetics. En: Lifton RP, Somlo S, Giebisch GH, Seldin DW, eds. Genetic diseases of the kidney. Burlington, MA: Academic Press-Elsevier, 2009:25-38.
(25) Bajwa ZH, Gupta S, Warfield CA, Steinman TI. Pain management in polycystic kidney disease. Kidney Int 2001; 60(5):1631-44.
(26) Savaj S, Parvin M, Savoj J. Massive proteinuria and autosomal dominant polycystic kidney disease: a rare coincidence. Iran J Kidney Dis 2012; 6(1):73-6.
(27) Elhassan E, Masoumi A, Schrier RW. Progress on Autosomal Dominant Polycystic Kidney Disease. Arab J Nephrol Transplant 2009; 2(2):27-44.
(28) Obermüller N, Kränzlin B, Blum WF, Gretz N, Witzgall R. An endocytosis defect as a possible cause of proteinuria in polycystic kidney disease. Am J Physiol Renal Physiol 2001; 280(2):F244-53.
(29) Bennett WM, Elzinga L, Pulliam JP, Rashad AL, Barry JM. Cyst fluid antibiotic concentrations in autosomal-dominant polycystic kidney disease. Am J Kidney Dis 1985; 6(6):400-4.
(30) Stoller ML, Meng MV, eds. Urinary stone disease: the practical guide to medical and surgical management. Totowa, NJ: Humana Press, 2007.
(31) Torres VE, Erickson SB, Smith LH, Wilson DM, Hattery RR, Segura JW. The association of nephrolithiasis and autosomal dominant polycystic kidney disease. Am J Kidney Dis 1988; 11(4):318-25.
(32) Irazabal MV, Torres VE. Poliquistosis renal autosómica dominante. Nefrología 2011; 2(Supl 1):38-51.
(33) Harris PC, Bae KT, Rossetti S, Torres VE, Grantham JJ, Chapman AB, et al. Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 2006; 17(11):3013-9.
(34) Mao Z, Xie G, Ong AC. Metabolic abnormalities in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 2014 Mar 2. Epub ahead of print
(35) Sans Atxer L, Roca-Cusachs A, Torra R, Calero F, Arias P, Ballarin J, et al. Relación entre el tama;o renal y el perfil de presión arterial en pacientes con poliquistosis renal autosómica dominante sin insuficiencia renal. Nefrología 2010; 30(5):567-72.
(36) Tobal D, Larreborges P, Mimbacas C, Chichet A, Duque S, Caorsi H. Poliquistosis Renal en un grupo de 43 pacientes. En. Congreso Uruguayo de Nefrología, Montevideo 2007.
(37) Seeman T, Sikut M, Konrad M, Vondrichová H, Janda J, Schärer K. Blood pressure and renal function in autosomal dominant polycystic kidney disease. Pediatr Nephrol 1997; 11(5):592-6.
(38) Schrier RW. Renal volume, renin-angiotensin-aldosterone system, hypertension, and left ventricular hypertrophy in patients with autosomal dominant polycystic kidney disease. J Am Soc Nephrol 2009; 20(9):1888-93.
(39) Wadei HM, Textor SC. The role of the kidney in regulating arterial blood pressure. Nat Rev Nephrol 2012; 8(10):602-9.
(40) Ecder T, Schrier RW. Cardiovascular abnormalities in autosomal-dominant polycystic kidney disease. Nat Rev Nephrol 2009; 5(4):221-8.
(41) Melander C, Joly D, Knebelmann B. Autosomal dominant polycystic kidney disease: light at the end of the tunnel?. Nephrol Ther 2010; 6(4):226-31.
(42) Patch C, Charlton J, Roderick PJ, Gulliford MC. Use of antihypertensive medications and mortality of patients with autosomal dominant polycystic kidney disease: a population-based study. Am J Kidney Dis 2011; 57(6):856-62.
(43) Orskov B, Rømming Sørensen V, Feldt-Rasmussen B, Strandgaard S. Improved prognosis in patients with autosomal dominant polycystic kidney disease in Denmark. Clin J Am Soc Nephrol 2010; 5(11):2034-9.
(44) Pirson Y. Progrès cliniques et théraputics dans la polykystose rénal e autosomique dominante. En: Lesavre P, Drüeke T, Legendre C, Niaudet P. Actualités néprologiques Jean Hamburger: Hôpital Necker. Paris: Flammarion Médecine-Sciences, 2006:
(45) Luciano RL, Dahl NK. Extra-renal manifestations of autosomal dominant polycystic kidney disease (ADPKD): considerations for routine screening and management. Nephrol Dial Transplant 2014; 29(2):247-54.
(46) Grantham JJ. Clinical practice: autosomal dominant polycystic kidney disease. N Engl J Med 2008; 359(14): 1477-85.
(47) Brosnahan GM. Volume progression in polycystic kidney disease. N Engl J Med 2006; 355(7):733; author reply 733-4.
(48) Tobal D, Olascoaga A, Rodríguez Parodi M, Malacrida L, Petraglia A, Noboa O. Poliquistosis renal autosómica dominante: volumen renal y función renal. En: Congreso Uruguayo de Nefrología, Montevideo 2009.
(49) HALT PKD Study Group, Perrone RD, Abebe KZ, Schrier RW, Chapman AB, Torres VE, Bost J, et al.Cardiac magnetic resonance assessment of left ventricular mass in autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol 2011; 6(10):2508-15.
(50) Helal I. Autosomal dominant polycystic kidney disease: new insights into treatment. Saudi J Kidney Dis Transpl 2013; 24(2):230-4.
(51) TEMPO 3:4 Trial Investigators, Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Grantham JJ, Higashihara E, et al. Tolvaptan in patients with autosomal dominant polycystic kidney disease. N Engl J Med 2012; 367(25):2407-18.
(52) Hadimeri H, Johansson AC, Haraldsson B, Nyberg G. CAPD in patients with autosomal dominant polycystic kidney disease. Perit Dial Int 1998; 18(4):429-32.
(53) Perrone RD, Ruthazer R, Terrin NC. Survival after end-stage renal disease in autosomal dominant polycystic kidney disease: contribution of extrarenal complications to mortality. Am J Kidney Dis 2001; 38(4):777-84.
(54) Pirson Y, Christophe JL, Goffin E. Outcome of renal replacement therapy in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 1996; 11(Suppl 6):24-8.
(55) Stiasny B, Ziebell D, Graf S, Hauser IA, Schulze BD. Clinical aspects of renal transplantation in polycystic kidney disease. Clin Nephrol 2002; 58(1):16-24.
(56) Orihuela L, Curi L, Orihuela S, Tobal D, González Martínez F. Características y evolución de pacientes con poliquistosis renal y transplante renal. En: XVI Congreso de la Sociedad Latinoamericana de Nefrología e Hipertensión Arterial, Cartagena de Indias, Colombia 18-21 abril 2012.
Publicado
2014-09-30
Cómo citar
1.
Tobal D, Noboa O. Poliquistosis renal autosómica dominante. Rev. Méd. Urug. [Internet]. 30 de septiembre de 2014 [citado 17 de noviembre de 2024];30(3):184-92. Disponible en: http://www2.rmu.org.uy/ojsrmu311/index.php/rmu/article/view/243
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Trabajos de Revisión o Actualización y Puestas al día
