Autosomal dominant polycystic kidney disease is a systemic disorder that presents most of its affections at the renal level; and in some cases with vascular, hepatic, pancreatic abnormalities or a combination of all of them. Autosomal dominant polycystic kidney is recognized as the most common hereditary cause of kidney disease and one of the most common causes of end-stage renal disease, presenting arterial hypertension, hematuria and proteinuria as its main symptoms, and among its complications and sequelae are chronic kidney disease, nephrolithiasis, cerebral aneurysms, repeated urinary tract infections, cystic hemorrhage, respectively. Treatments are based on the control of arterial hypertension and pain in order to limit the morbidity and mortality of complications.
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Kasper DL, Fauci AS, Hauser SL, Longo DL, Lameson JL, Loscalzo J. Harrison's Principles of Internal Medicine. New York, NY: McGraw-Hill Education; 2015
Montaña A, Patiño N, Larrate C, Zambrano F, Martínez J, Lozano H, Lozano E Update on polycystic kidney disease [Internet]. 2017 [citado 06 Junio de 2024]. Disponible en: //dx.doi.org/10.15446/revfacmed.v66n1.60760
Menezes L, Germino G. The pathobiology of polycystic kidney disease from a metabolic viewpoint [Internet]. 2021 [citado 14 Julio de 2021]. Disponible en: https://doi.org/10.1038/ s41581-019-0183-y
Golbert G, Eltggal M, Gaur L. Update and review of adult polycystic kidney disease, Disease-a-Month, [Internet]. 2019 [citado 14 Julio de 2021]. Disponible en: https://doi.org/10.1016/j.disamonth.2019.100887
Cecil, R., Goldman, L. and Schafer, A., 2016. Goldman's Cecil Medicine. 25th ed. Philadelphia: Elsevier/Saunders; 2016, pp.816-820.
Bergmann C. Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses. Frontiers in Pediatrics 2018;5. [citado 20 Julio de 2021]. Disponible en: doi:10.3389/fped.2017.00221.
11. Chapman AB, Devuyst O, Eckardt KU, Gansevoort RT, Harris T, Horie S, Kasiske BL, Odland D, Pei Y, Perrone RD, Pirson Y, Schrier RW, Torra R, Torres VE, Watnick T, Wheeler DC; Conference Participants. Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2015 Jul;88(1):17-27. [citado 20 Julio de 2021]. Disponible en: doi: 10.1038/ki.2015.59.
Alves M, Fonseca T, de Almeida EAF. Differential Diagnosis of Autosomal Dominant Polycystic Kidney Disease. In: Li X, editor. Polycystic Kidney Disease [Internet]. Brisbane (AU): Codon Publications; 2015 Nov. Chapter 1. [citado 20 Julio de 2021]. Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK373390/ doi: 10.15586/codon.pkd.2015.ch1
Silverman SG, Pedrosa I, Ellis JH, et al. Bosniak Classification of Cystic Renal Masses, Version 2019: An Update Proposal and Needs Assessment. Radiology .2019; 292(2): p.475-488. [citado 20 Julio de 2021]. Disponible en: doi: 10.1148/radiol.2019182646
Gimpel C, Bergmann C, Bockenhauer D, Breysem L, Cadnapaphornchai MA, Cetiner M, Dudley J, Emma F, Konrad M, Harris T, Harris PC, König J, Liebau MC, Marlais M, Mekahli D, Metcalfe AM, Oh J, Perrone RD, Sinha MD, Titieni A, Torra R, Weber S, Winyard PJD, Schaefer F. International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people. Nat Rev Nephrol. 2019 Nov;15(11):713-726. [citado 21 Julio de 2021]. Disponible en: doi: 0.1038/s41581-019-0155-2.
Chapman AB. Autosomal dominant polycystic kidney disease: time for a change? J Am Soc Nephrol. 2007 May;18(5):1399-407. [citado 21 July 2021]. Disponible en: doi: 10.1681/ASN.2007020155.
Pei Y, Hwang YH, Conklin J, Sundsbak JL, Heyer CM, Chan W, Wang K, He N, Rattansingh A, Atri M, Harris PC, Haider MA. Imaging-based diagnosis of autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2015 Mar;26(3):746-53. [citado 21 Julio de 2021]. Disponible en: doi: 10.1681/ASN.2014030297.
Schrier RW, Abebe KZ, Perrone RD, Torres VE, Braun WE, Steinman TI, Winklhofer FT, Brosnahan G, Czarnecki PG, Hogan MC, Miskulin DC, Rahbari-Oskoui FF, Grantham JJ, Harris PC, Flessner MF, Bae KT, Moore CG, Chapman AB; HALT-PKD Trial Investigators. Blood pressure in early autosomal dominant polycystic kidney disease. N Engl J Med. 2014 Dec 11;371(24):2255-66. [citado 21 Noviembre de 2020] Disponible en: doi: https://www.nejm.org/doi/10.1056/NEJMoa1402685?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200www.ncbi.nlm.nih.gov
García Garcés M. Enfermedad poliquística hepática asociada a enfermedad poliquística renal autosómica dominante [Internet]. Medigraphic.com. 2011 [citado el 18 de noviembre de 2020]. Disponible en: https://www.medigraphic.com/pdfs/medsur/ms-2011/ms113f.pdf
Perico, N., Ruggenenti, P., Perna, A., Caroli, A., Trillini, M., Sironi, S., Pisani, A., Riccio, E., Imbriaco, M., Dugo, M., Morana, G., Granata, A., Figuera, M., Gaspari, F., Carrara, F., Rubis, N., Villa, A., Gamba, S., Prandini, S., Cortinovis, M., … ALADIN 2 Study Group (2019). Octreotide-LAR in later-stage autosomal dominant polycystic kidney disease (ALADIN 2): A randomized, double-blind, placebo-controlled, multicenter trial. PLoS medicine, 16(4), e1002777. [citado 07 Julio de 2024]. Disponible en: https://doi.org/10.1371/journal.pmed.1002777
Qian Q, Wang HY. ALADIN: wish granted in inherited polycystic kidney disease? Lancet. 2013 Nov 2;382(9903):1469-71. doi: 10.1016/S0140-6736(13)61541-X. Epub 2013 Aug 21. PMID: 23972262; PMCID: PMC4054814.
Qian Q, Du H, King BF, Kumar S, Dean PG, Cosio FG, Torres VE. Sirolimus reduces polycystic liver volume in ADPKD patients. J Am Soc Nephrol. 2008 Mar;19(3):631-8. doi: 10.1681/ASN.2007050626. Epub 2008 Jan 16. PMID: 18199797; PMCID: PMC2391057.
Perico N, Antiga L, Caroli A, Ruggenenti P, Fasolini G, Cafaro M, Ondei P, Rubis N, Diadei O, Gherardi G, Prandini S, Panozo A, Bravo RF, Carminati S, De Leon FR, Gaspari F, Cortinovis M, Motterlini N, Ene-Iordache B, Remuzzi A, Remuzzi G. Sirolimus therapy to halt the progression of ADPKD. J Am Soc Nephrol. 2010 Jun;21(6):1031-40. doi: 10.1681/ASN.2009121302. Epub 2010 May 13. PMID: 20466742; PMCID: PMC2900967.
Serra AL, Poster D, Kistler AD, Krauer F, Raina S, Young J, Rentsch KM, Spanaus KS, Senn O, Kristanto P, Scheffel H, Weishaupt D, Wüthrich RP. Sirolimus and kidney growth in autosomal dominant polycystic kidney disease. N Engl J Med. 2010 Aug 26;363(9):820-9. doi: 10.1056/NEJMoa0907419.
Walz G, Budde K, Mannaa M, Nürnberger J, Wanner C, Sommerer C, Kunzendorf U, Banas B, Hörl WH, Obermüller N, Arns W, Pavenstädt H, Gaedeke J, Büchert M, May C, Gschaidmeier H, Kramer S, Eckardt KU. Everolimus in patients with autosomal dominant polycystic kidney disease. N Engl J Med. 2010 Aug 26;363(9):830-40. doi: 10.1056/NEJMoa1003491
Tellman, M. W., Bahler, C. D., Shumate, A. M., Bacallao, R. L., & Sundaram, C. P. 2015. Management of pain in autosomal dominant polycystic kidney disease and anatomy of renal innervation. The Journal of urology, 193(5), 1470–1478. [citado 07 Julio de 2024]. Disponible en: doi:https://doi.org/10.1016/j.juro.2014.10.124
Salazar Carrera, I H, Romero Andrés, R, Revelo Vásconez, J P, & Mora Useche, A E. 2020. Bloqueo de nervios esplácnicos para tratamiento del dolor abdominal crónico benigno. Reporte de caso con revisión temática. Revista de la Sociedad Española del Dolor, 27(4), 273-277. Epub 13 de octubre de 2020.https://dx.doi.org/10.20986/resed.2020.3818/2020