Nefropatías congénitas y hereditarias (II)enfermedad quística

  1. del Valle, K.M. Pérez
  2. Sevillano, B. Hernández
  3. Tocora, D.G. Gaitán
  4. Gili, B. Quiroga
  5. de la Fuente, G. de Arriba
Revue:
Medicine: Programa de Formación Médica Continuada Acreditado

ISSN: 0304-5412

Année de publication: 2019

Titre de la publication: Enfermedades nefrourinarias (V)Enfermedades renales tubulointersticiales.Nefropatías hereditarias y congénitas

Serie: 12

Número: 83

Pages: 4885-4894

Type: Article

DOI: HTTPS://DOI.ORG/10.1016/J.MED.2019.06.023 DIALNET GOOGLE SCHOLAR

D'autres publications dans: Medicine: Programa de Formación Médica Continuada Acreditado

Résumé

Inherited cystic nephropathies are a heterogeneous group of conditions characterizing by cysts in the kidneys, resulting, in most cases, in chronic renal disease. Renal cyst is defined as a dilation of kidney tubules, about four times normal size. They can be single or multiple cysts, unilateral or bilateral. Renal and extrarenal clinical manifestations are observed in some entities. Autosomal dominant polycystic kidney diseases are the most common inherited cystic nephropathies, the remaining show a low prevalence and are considered rare diseases. Their classification is complex. The new genetic techniques have allowed improve their diagnosis and to establish new therapeutic approaches.

Références bibliographiques

  • Ayasreh Fierro N, Miquel Rodríguez R, Matamala Gastón A, Ars Criach E, Torra Balcells R. A review on autosomal dominant tubulointerstitial kidney disease. Nefrologia [Internet]. 2017;37(3):235-43.
  • Bergmann C. ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies. Pediatr Nephrol [Internet]. 2015;30(1):15-30.
  • Bleyer AJ, Woodard AS, Shihabi Z, Sandhu J, Zhu H, Satko SG. Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene. Kidney Int [Internet]. 2003;64(1): 36-42.
  • Contreras G, Mercado A, Pardo V, Vaamonde CA. Nephrotic syndrome in autosomal dominant polycystic kidney disease. J Am Soc Nephrol [Internet]. 1995;6(5):1354-9.
  • Cornec-Le Gall E, Audrézet M-P, Rousseau A, Hourmant M, Renaudineau E, Charasse C. The PROPKD Score: a new algorithm to predict renal survival in autosomal dominant polycystic kidney disease. J Am Soc Nephrol [Internet]. 2016;27(3):942-51.
  • Cornec-Le Gall E, Olson RJ, Besse W, Heyer CM, Gainullin VG, Smith JM. Monoallelic mutations to DNAJB11 cause atypical autosomaldominant polycystic kidney disease. Am J Hum Genet [Internet]. 2018; 102(5):832-44.
  • Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet [Internet]. 2001;68(1):64-80.
  • Ecder T, Schrier RW. Hypertension in autosomal-dominant polycystic kidney disease: early occurrence and unique aspects. J Am Soc Nephrol [Internet]. 2001;12(1):194-200.
  • Eckardt K-U, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management : A KDIGO consensus report. Kidney Int [Internet]. 2015;88(4):676-83.
  • Everson GT. Hepatic cysts in autosomal dominant polycystic kidney disease. Am J Kidney Dis [Internet]. 1993;22(4):520-5.
  • Fliegauf M, Benzing T, Omran H. When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol [Internet]. 2007;8(11):880-93.
  • Fonck C, Chauveau D, Gagnadoux MF, Pirson Y, Grünfeld JP. Autosomal recessive polycystic kidney disease in adulthood. Nephrol Dial Transplant [Internet]. 2001;16(8):1648-52.
  • Gabow PA. Autosomal dominant polycystic kidney disease. N Engl J Med [Internet]. 1993;329(5):332-42.
  • Gabow PA, Duley I, Johnson AM. Clinical profiles of gross hematuria in autosomal dominant polycystic kidney disease. Am J Kidney Dis;20(2):140-3.
  • Gansevoort RT, Arici M, Benzing T, Birn H, Capasso G, Covic A. Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: A position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice. Vol. 31, Nephrology Dialysis Transplantation. Londres: Oxford University Press; 2016. p. 337-48.
  • Grantham JJ, Chapman AB, Torres VE. Volume progression in autosomal dominant polycystic kidney disease: the major factor determining clinical outcomes. Clin J Am Soc Nephrol [Internet]. 2006;1(1):148-57.
  • Guay-Woodford LM, Bissler JJ, Braun MC, Bockenhauer D, Cadnapaphornchai MA, Dell KM. Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference. J Pediatr [Internet]. 2014; 165(3):611-7.
  • Higashihara E, Torres VE, Chapman AB, Grantham JJ, Bae K, Watnick TJ. Tolvaptan in autosomal dominant polycystic kidney disease: three years’ experience. Clin J Am Soc Nephrol [Internet]. 2011;6(10): 2499-507.
  • Huang E, Samaniego-Picota M, McCune T, Melancon JK, Montgomery RA, Ugarte R. DNA testing for live kidney donors at risk for autosomal dominant polycystic kidney disease. Transplantation [Internet]. 2009;87(1):133-7.
  • Kamath BM, Piccoli DA. Heritable disorders of the bile ducts. Gastroenterol Clin North Am [Internet]. 2003;32(3):857-75.
  • Kumar S, Cederbaum AI, Pletka PG. Renal cell carcinoma in polycystic kidneys: case report and review of literature. J Urol [Internet]. 1980; 124(5):708-9.
  • Leier CV, Baker PB, Kilman JW, Wooley CF. Cardiovascular abnormalities associated with adult polycystic kidney disease. Ann Intern Med [Internet]. 1984;100(5):683-8.
  • Lu H, Galeano MCR, Ott E, Kaeslin G, Kausalya PJ, Kramer C. Mutations in DZIP1L, which encodes a ciliarytransitionzone protein, cause autosomal recessive polycystic kidney disease. Nat Genet [Inter-net]. 2017;49(7):1025-34.
  • Luo F, Tao Y-H. Nephronophthisis: A review of genotypephenotype correlation. Nephrology [Internet]. 2018;23(10):904-11.
  • Maher ER, Yates JR, Harries R, Benjamin C, Harris R, Moore AT. Clinical features and natural history of von Hippel-Lindau disease. Q J Med [Internet]. 1990;77(283):1151-63.
  • Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E. Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol JA [Internet]. 2009;20(1):205-12.
  • Ravine D, Gibson RN, Walker RG, Sheffield LJ, Kincaid-Smith P, Danks DM. Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet (London, England) [Internet]. 1994;343(8901):824-7.
  • Rizk D, Chapman AB. Cystic and inherited kidney diseases. Am J Kidney Dis [Internet]. 2003;42(6):1305-17.
  • Tan AY, Blumenfeld J, Michaeel A, Donahue S, Bobb W, Parker T. Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism. Clin Genet [Internet]. 2015;87(4):373-7.
  • Torres VE, Wilson DM, Hattery RR, Segura JW. Renal stone disease in autosomal dominant polycystic kidney disease. Am J Kidney Dis [Internet]. 1993;22(4):513-9.
  • Tory K, Rousset-Rouvière C, Gubler M-C, Morinière V, Pawtowski A, Becker C. Mutations of NPHP2 and NPHP3 in infantile nephro-nophthisis. Kidney Int [Internet]. 2009;75(8):839-47.
  • Tran LH, Zupanc ML. Long Term everolimus treatment in individuals with tuberous sclerosis complex: a review of the current literature. Pediatr Neurol [Internet]. 2015;53(1):23-30.
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