Polycystic Renal Disease: An Update
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May 22, 2012
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Abstract
Polycystic Kidney Disease (PKD) is a common genetic condition, which is characterized by gradual appearance of multiple cysts in the kidneys; this causes the destruction of renal parenchyma leading to chronic renal disease. PKD has two patterns of inheritance: autosomal dominant and autosomal recessive. The autosomal dominant form is more common and less severe than the autosomal recessive. It is known that PKD is caused by mutation in several human loci. The autosomal dominant form can be caused by mutations in 2 different genes (PKD1 and PKD2). The autosomal recessive form has only one causal gene (PKHD1). There are numerous publications worldwide that seek to explain the pathophysiology of the disease; this reflects an international effort to understand the nature of the disease, to develop therapies to prevent the appearance of cysts or the progression of those already existent lesions. The objective of this review is to update the knowledge we have so far, about polycystic kidney disease therefore we decided to conduct a brief review of the clinical features of disease and the treatment available today.
Keywords
enfermedades renales poliquísticas, hipertensión, túbulo, riñón, genética, Polycystic kidney, hypertension, tubule, kidney, genetic,
References
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2. Dalgaard O. Bilateral polycystic disease of the kidneys: A follow-up of two hundred and eighty-four patients and their families. Acta Med Scand Suppl. 1957;328:1-255.
3. Stengel B, Billon S, van Dijk PC. Trends in the incidence of renal replacement therapy for end-stage renal disease in Europe, 1990-1999. Nephrol Dial Transplant. 2003;18:1824-33.
4. Wilson P. Polycystic kidney disease. N Engl J Med. 2004;350:151-64.
5. Klahr S, Breyer JA, Beck GJ, et al. Dietary protein restriction, blood pressure control, and the progression of polycystic kidney disease. J Am Soc Nephrol. 1995; 5:2037-47.
6. Schrier RW. Optimal care of autosomal dominant polycystic kidney disease patients. Nephrology (Carlton). 2006;11:124-30.
7. Shillingford JM, Murcia NS, Larson CH, et al. The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease. Proc Natl Acad Sci USA. 2006;103:5466-71.
8. US Renal Data System. USRDS 2010 Annual Data Report: Atlas of chronic kidney disease and end-stage renal disease in the United States [internet]. Bethesda, MD: National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases; 2010 [citado 2011 feb 12].
9. Rodríguez R. Retardo en la progresión del daño renal en pacientes con insuficiencia renal crónica estado 4: impacto de un programa de prevención en prediálisis. Asocolnef. 2007;1:10-21.
10. Kidney Disease: Improving Global Outcomes (KDIGO) CKD Work Group. KDIGO 2012 clinical practice guideline for the evaluation and management of chronic kidney disease. Kidney Inter. Suppl. 2013;3:1-150.
11. Park EY WY. Polycystic kidney disease and therapeutic approaches. BMB Reports. 2011 Jun;44:359-68.
12. Grantham JJ, Torres VE, Chapman AB, et al. Volume progression in polycystic kidney disease. N Engl J Med. 2006;354:2122-30.
13. Harris PC, Rossetti S. Molecular diagnostics for autosomal dominant polycystic kidney disease. Nat Rev Nephrol. 2010;6:197-206.
14. Harris PC, Rossetti S. Determinants of renal disease variability in ADPKD. Adv Chronic Kidney Dis. 2010;17:131-9.
15. Handa SP. Cardiovascular manifestations of autosomal dominant polycystic kidney disease in young adults. Clin Invest Med. 2006;29:339-46.
16. Seeman DJ. Ambulatory blood pressure correlates with renal volume and number of renal cysts in children with autosomal dominant polycystic kidney disease. Blood Press Monit. 2000;8:107-10.
17. Grantham JJ. Autosomal dominant polycystic kidney disease. N Engl J Med. 2008;359:1477-85.
18. Hateboer N, Dijk MAv, Bogdanova N, et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. Lancet. 1999;353:103-7.
19. Serra AL, Poster D, Kistler AD, et al. Sirolimus and kidney growth in autosomal dominant polycystic kidney disease. N Engl J Med. 2010;363:820-9.
20. Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet. 2007;369:1287-301.
21. Torres VE. Treatment strategies and clinical trial design in ADPKD. Adv Chronic Kidney Dis. 2010;17:190-204.
22. Ravine D, Gibson RN, Walker RG, et al. Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet. 1994;343:824-7.
23. Nicolau C, Torra R, Badenas C, et al. Autosomal dominant polycystic kidney disease types 1 and 2: assessment of US sensitivity for diagnosis. Radiology. 1999;213:273-6.
24. Ecder T SR. Hypertension in autosomal dominant polycystic kidney disease: early occurrence and unique aspects. J Am Soc Nephrol. 2001;12:194-200.
25. Sarnak M. The effect of a lower target blood pressure on the progression of kidney disease: long-term follow-up of the modification of diet in renal disease study. Ann Intern Med. 2005;142:342-51.
26. Alam A, Perrone RD. Management of ESRD in patients with autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis. 2010;17:164-72.
27. International Advisory Board Meeting 2006: Abstracts. Nutritional therapy in patients with chronic kidney disease: proteinrestricted diets supplemented with keto/amino acids. Am J Nephrol. 2006;26(Suppl. 1):5-27.
28. Ong AC, Devuyst O. Towards the integration of genetic knowledge into clinical practice. Nephron Clin Pract. 2011;118:c3-8.
29. Pagon RA, Bird TD, Dolan CR, et al., editors. Genereviews. Seattle (WA): University of Washington; 1993.
30. Pei Y. Practical genetics for autosomal dominant polycystic kidney disease. Nephron Clin Pract. 2011;118:c19-30.
31. Grantham J, Mulamalla S, Swenson-Fields K. Why kidneys fail in autosomal dominant polycystic kidney disease [internet]. Nat Rev Nephrol. 2011;7:556-66. DOI:10.1038/nrneph.2011.109.
32. Beevers C. Curcumin inhibits the mammalian target of rapamycin-mediated signaling pathways in cancer cells. Int J cancer. 2006;119:757-64.
33. Nissim Hay NS. Upstream and downstream of mTOR. Genes & Dev. 2004;18:1926-45.
34. Walz G, Budde K, Mannaa M, et al. Everolimus in patients with autosomal dominant polycystic kidney disease. N Engl J Med. 2010;363:830-40.
35. Rossetti S, Consugar MB, Chapman AB, et al. CRISP Consortium. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2007;18:2143-60.
36. Zerres K, Mucher G, Becker J, et al. Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. Am J Med Genet. 1998;76:137-44.
37. Zerres K, Mucher G, Bachner L, et al. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nat Genet. 1994;7:429-32.
38. Guay-Woodford LM, Muecher G, Hopkins SD et al. The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1--p12: implications for genetic counseling. Am J Hum Genet. 1995;56:1101-7.
39. Favoretto N, Lanzarini V, Onuchic L, et al. Clinical aspects of autosomal recessive polycystic kidney disease (ARPKD). J Bras Nefrol. 2010;32(3):261-4.
40. Guay-Woodford L, Desmond RA. Autosomal recessive polycystic kidney disease: The clinical experience in North America. Pediatrics. 2003;111:1072-80.
41. Avni FE, Hall M. Renal cystic diseases in children: New concepts. Pediatr Radiol. 2010;40:939-46.
42. Dell K, Sweeney W, Avner E. Polycystic kidney disease. In: Avner ED, Harmon W, Niadet P,Yoshikawa N, editors. Pediatric nephrology. 6th ed. Heidelberg: Springer-Verlag; 2009. p. 849-88.
43. Nakanishi K, Sweeney WE, Zerres K, Guay-Woodford LM, Avner ED. Proximal tubular cysts in fetal human autosomal recessive polycystic kidney disease. J Am Soc Nephrol. 2000;11:760-3.
44. Bergmann C, Senderek J, Windelen E, et al. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int. 2005;67:829-48.
45. Sharp AM, Messiaen LM, Page G et al. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. J Med Genet. 2005;42:336-49.
46. Drenth JP, Chrispijn M, Bergmann C. Congenital fibrocystic liver diseases. Best Pract Res Clin Gastroenterol. 2010;24:573-84.
47. Gunay-Aygun M, Font-Montgomery, Lukose L. Correlation of Kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. Clin J Am Soc Nephrol. 2010 Jun;5(6):972-84.
48. Winyard P, Chitty L. Dysplastic and polycystic kidneys: diagnosis, associations and management. Prenat Diagn. 2001;21:924-35.
49. Lau E, Janson M, Roesler M, et al. Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification. J Assist Reprod Genet. 2010;27:397-407.
50. Zerres K, Rudnik-Schoneborn S, Steinkamm C, et al. Autosomal recessive polycystic kidney disease. J Mol Med. 1998b;76:303-9.
51. Christian R, Halvorson C, Bremmer M, Jacobs S. Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment. Int J Nephrol Renovasc Dis. 2010;3:69-83.
2. Dalgaard O. Bilateral polycystic disease of the kidneys: A follow-up of two hundred and eighty-four patients and their families. Acta Med Scand Suppl. 1957;328:1-255.
3. Stengel B, Billon S, van Dijk PC. Trends in the incidence of renal replacement therapy for end-stage renal disease in Europe, 1990-1999. Nephrol Dial Transplant. 2003;18:1824-33.
4. Wilson P. Polycystic kidney disease. N Engl J Med. 2004;350:151-64.
5. Klahr S, Breyer JA, Beck GJ, et al. Dietary protein restriction, blood pressure control, and the progression of polycystic kidney disease. J Am Soc Nephrol. 1995; 5:2037-47.
6. Schrier RW. Optimal care of autosomal dominant polycystic kidney disease patients. Nephrology (Carlton). 2006;11:124-30.
7. Shillingford JM, Murcia NS, Larson CH, et al. The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease. Proc Natl Acad Sci USA. 2006;103:5466-71.
8. US Renal Data System. USRDS 2010 Annual Data Report: Atlas of chronic kidney disease and end-stage renal disease in the United States [internet]. Bethesda, MD: National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases; 2010 [citado 2011 feb 12].
9. Rodríguez R. Retardo en la progresión del daño renal en pacientes con insuficiencia renal crónica estado 4: impacto de un programa de prevención en prediálisis. Asocolnef. 2007;1:10-21.
10. Kidney Disease: Improving Global Outcomes (KDIGO) CKD Work Group. KDIGO 2012 clinical practice guideline for the evaluation and management of chronic kidney disease. Kidney Inter. Suppl. 2013;3:1-150.
11. Park EY WY. Polycystic kidney disease and therapeutic approaches. BMB Reports. 2011 Jun;44:359-68.
12. Grantham JJ, Torres VE, Chapman AB, et al. Volume progression in polycystic kidney disease. N Engl J Med. 2006;354:2122-30.
13. Harris PC, Rossetti S. Molecular diagnostics for autosomal dominant polycystic kidney disease. Nat Rev Nephrol. 2010;6:197-206.
14. Harris PC, Rossetti S. Determinants of renal disease variability in ADPKD. Adv Chronic Kidney Dis. 2010;17:131-9.
15. Handa SP. Cardiovascular manifestations of autosomal dominant polycystic kidney disease in young adults. Clin Invest Med. 2006;29:339-46.
16. Seeman DJ. Ambulatory blood pressure correlates with renal volume and number of renal cysts in children with autosomal dominant polycystic kidney disease. Blood Press Monit. 2000;8:107-10.
17. Grantham JJ. Autosomal dominant polycystic kidney disease. N Engl J Med. 2008;359:1477-85.
18. Hateboer N, Dijk MAv, Bogdanova N, et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. Lancet. 1999;353:103-7.
19. Serra AL, Poster D, Kistler AD, et al. Sirolimus and kidney growth in autosomal dominant polycystic kidney disease. N Engl J Med. 2010;363:820-9.
20. Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet. 2007;369:1287-301.
21. Torres VE. Treatment strategies and clinical trial design in ADPKD. Adv Chronic Kidney Dis. 2010;17:190-204.
22. Ravine D, Gibson RN, Walker RG, et al. Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet. 1994;343:824-7.
23. Nicolau C, Torra R, Badenas C, et al. Autosomal dominant polycystic kidney disease types 1 and 2: assessment of US sensitivity for diagnosis. Radiology. 1999;213:273-6.
24. Ecder T SR. Hypertension in autosomal dominant polycystic kidney disease: early occurrence and unique aspects. J Am Soc Nephrol. 2001;12:194-200.
25. Sarnak M. The effect of a lower target blood pressure on the progression of kidney disease: long-term follow-up of the modification of diet in renal disease study. Ann Intern Med. 2005;142:342-51.
26. Alam A, Perrone RD. Management of ESRD in patients with autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis. 2010;17:164-72.
27. International Advisory Board Meeting 2006: Abstracts. Nutritional therapy in patients with chronic kidney disease: proteinrestricted diets supplemented with keto/amino acids. Am J Nephrol. 2006;26(Suppl. 1):5-27.
28. Ong AC, Devuyst O. Towards the integration of genetic knowledge into clinical practice. Nephron Clin Pract. 2011;118:c3-8.
29. Pagon RA, Bird TD, Dolan CR, et al., editors. Genereviews. Seattle (WA): University of Washington; 1993.
30. Pei Y. Practical genetics for autosomal dominant polycystic kidney disease. Nephron Clin Pract. 2011;118:c19-30.
31. Grantham J, Mulamalla S, Swenson-Fields K. Why kidneys fail in autosomal dominant polycystic kidney disease [internet]. Nat Rev Nephrol. 2011;7:556-66. DOI:10.1038/nrneph.2011.109.
32. Beevers C. Curcumin inhibits the mammalian target of rapamycin-mediated signaling pathways in cancer cells. Int J cancer. 2006;119:757-64.
33. Nissim Hay NS. Upstream and downstream of mTOR. Genes & Dev. 2004;18:1926-45.
34. Walz G, Budde K, Mannaa M, et al. Everolimus in patients with autosomal dominant polycystic kidney disease. N Engl J Med. 2010;363:830-40.
35. Rossetti S, Consugar MB, Chapman AB, et al. CRISP Consortium. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2007;18:2143-60.
36. Zerres K, Mucher G, Becker J, et al. Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. Am J Med Genet. 1998;76:137-44.
37. Zerres K, Mucher G, Bachner L, et al. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nat Genet. 1994;7:429-32.
38. Guay-Woodford LM, Muecher G, Hopkins SD et al. The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1--p12: implications for genetic counseling. Am J Hum Genet. 1995;56:1101-7.
39. Favoretto N, Lanzarini V, Onuchic L, et al. Clinical aspects of autosomal recessive polycystic kidney disease (ARPKD). J Bras Nefrol. 2010;32(3):261-4.
40. Guay-Woodford L, Desmond RA. Autosomal recessive polycystic kidney disease: The clinical experience in North America. Pediatrics. 2003;111:1072-80.
41. Avni FE, Hall M. Renal cystic diseases in children: New concepts. Pediatr Radiol. 2010;40:939-46.
42. Dell K, Sweeney W, Avner E. Polycystic kidney disease. In: Avner ED, Harmon W, Niadet P,Yoshikawa N, editors. Pediatric nephrology. 6th ed. Heidelberg: Springer-Verlag; 2009. p. 849-88.
43. Nakanishi K, Sweeney WE, Zerres K, Guay-Woodford LM, Avner ED. Proximal tubular cysts in fetal human autosomal recessive polycystic kidney disease. J Am Soc Nephrol. 2000;11:760-3.
44. Bergmann C, Senderek J, Windelen E, et al. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int. 2005;67:829-48.
45. Sharp AM, Messiaen LM, Page G et al. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. J Med Genet. 2005;42:336-49.
46. Drenth JP, Chrispijn M, Bergmann C. Congenital fibrocystic liver diseases. Best Pract Res Clin Gastroenterol. 2010;24:573-84.
47. Gunay-Aygun M, Font-Montgomery, Lukose L. Correlation of Kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. Clin J Am Soc Nephrol. 2010 Jun;5(6):972-84.
48. Winyard P, Chitty L. Dysplastic and polycystic kidneys: diagnosis, associations and management. Prenat Diagn. 2001;21:924-35.
49. Lau E, Janson M, Roesler M, et al. Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification. J Assist Reprod Genet. 2010;27:397-407.
50. Zerres K, Rudnik-Schoneborn S, Steinkamm C, et al. Autosomal recessive polycystic kidney disease. J Mol Med. 1998b;76:303-9.
51. Christian R, Halvorson C, Bremmer M, Jacobs S. Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment. Int J Nephrol Renovasc Dis. 2010;3:69-83.
How to Cite
Guatibonza, Y. P., Rodríguez, R. E., Córdoba, J. P., & Zarante, I. (2012). Polycystic Renal Disease: An Update. Universitas Medica, 54(1), 53–68. https://doi.org/10.11144/Javeriana.umed54-1.aerp
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