Actualización en profundidad | 09 AGO 22

Enfermedad renal quística neonatal

Etiologías genéticas, diagnóstico y manejo de la enfermedad renal quística neonatal
Autor/a: Leah S. Heidenreich, Ellen M. Bendel-Stenzel, Peter C. Harris, Christian Hanna Neoreviews (2022) 23 (3): e175e188.
INDICE:  1. Texto principal | 2. Referencia bibliográfica
Referencia bibliográfica

1. Raina R, Chakraborty R, Sethi SK, Kumar D, Gibson K, Bergmann C. Diagnosis and management of renal cystic disease of the newborn: Core curriculum 2021. Am J Kidney Dis. 2021;78(1): 125–141

2. Gimpel C, Avni FE, Bergmann C, et al. Perinatal diagnosis, management, and follow-up of cystic renal diseases: a clinical practice recommendation with systematic literature reviews. JAMA Pediatr. 2018;172(1):74–86

3. Whittle M, Sim~oes R; Sociedade Brasileira de Genetica Medica. Hereditary polycystic kidney disease: genetic diagnosis and counseling. Rev Assoc Med Bras (1992). 2014;60(2):98–102

4. McConnachie DJ, Stow JL, Mallett AJ. Ciliopathies and the kidney: a review. Am J Kidney Dis. 2021;77(3):410–419

5. Fliegauf M, Benzing T, Omran H. When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol. 2007;8(11):880–893

6. Nachury MV. How do cilia organize signalling cascades? Philos Trans R Soc Lond B Biol Sci. 2014;369(1650):20130465

7. Huang S, Hirota Y, Sawamoto K. Various facets of vertebrate cilia: motility, signaling, and role in adult neurogenesis. Proc Jpn Acad, Ser B, Phys Biol Sci. 2009;85(8):324–336

8. Singla V, Reiter JF. The primary cilium as the cell’s antenna: signaling at a sensory organelle. Science. 2006;313(5787):629–633

9.Anvarian Z, Mykytyn K, Mukhopadhyay S, Pedersen LB, Christensen ST. Cellular signalling by primary cilia in development, organ function and disease. Nat Rev Nephrol. 2019;15(4):199–219

10. van Dam TJP, Kennedy J, van der Lee R, et al. CiliaCarta: an integrated and validated compendium of ciliary genes. PLoS One. 2019;14(5):e0216705

11. Waters AM, Beales PL. Ciliopathies: an expanding disease spectrum. Pediatr Nephrol. 2011;26(7):1039–1056

12. Bacallao RL, McNeill H. Cystic kidney diseases and planar cell polarity signaling. Clin Genet. 2009;75(2):107–117

13. Harris PC, Torres VE. Polycystic kidney disease. Annu Rev Med. 2009;60(1):321–337

14. Harms JC, Song CJ, Mrug M. The role of inflammation and fibrosis in cystic kidney disease. In: Cowley JBD, Bissler JJ, eds. Polycystic Kidney Disease: Translating Mechanisms into Therapy. Springer New York; 2018:111–129

15. Chapin HC, Caplan MJ. The cell biology of polycystic kidney disease. J Cell Biol. 2010;191(4):701–710

16. Ward CJ, Hogan MC, Rossetti S, et al. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet. 2002;30(3):259–269

17. Talati AN, Webster CM, Vora NL. Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT). Prenat Diagn. 2019;39(9):679–692

18. Guay-Woodford LM, Bissler JJ, Braun MC, et al. Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference. J Pediatr. 2014;165(3):611–617

19. Bergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DHM, Torres VE. Polycystic kidney disease. Nat Rev Dis Primers. 2018;4(1):50

20.Dell KM, Matheson M, Hartung EA, Warady BA, Furth SL; Chronic Kidney Disease in Children (CKiD) Study. Kidney disease progression in autosomal recessive polycystic kidney disease. J Pediatr. 2016;171:196–201.e1

21. Grieben M, Pike ACW, Shintre CA, et al. Structure of the polycystic kidney disease TRP channel polycystin-2 (PC2). Nat Struct Mol Biol. 2017;24(2):114–122

22. Fischer E, Legue E, Doyen A, et al. Defective planar cell polarity in polycystic kidney disease. Nat Genet. 2006;38(1):21–23

23. Terryn S, Ho A, Beauwens R, Devuyst O. Fluid transport and cystogenesis in autosomal dominant polycystic kidney disease. Biochim Biophys Acta. 2011;1812(10):1314–1321

24. Chapman AB. Autosomal dominant polycystic kidney disease: time for a change? J Am Soc Nephrol. 2007;18(5):1399–1407

25. Brun M, Maugey-Laulom B, Eurin D, Didier F, Avni EF. Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: a multicenter study. Ultrasound Obstet Gynecol. 2004;24(1):55–61

26.Gimpel C, Bergmann C, Mekahli D. The wind of change in the management of autosomal dominant polycystic kidney disease in childhood. [published online ahead of print, March 7, 2021; published correction August 23, 2021] Pediatr Nephrol.

27. Heyer CM, Sundsbak JL, Abebe KZ, et al; HALT ERP and CRISP Investigators. Predicted mutation strength of nontruncating ERP1 mutations aids genotype-phenotype correlations in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2016; 27(9):2872–2884

28. Lanktree MB, Guiard E, Li W, et al. Intrafamilial variability of ERPAD. Kidney Int Rep. 2019;4(7):995–1003

29. Forsythe E, Kenny J, Bacchelli C, Beales PL. Managing Bardet-Biedl syndrome: now and in the future. Front Pediatr. 2018;6:23

30. Bergmann C. Educational paper: ciliopathies. Eur J Pediatr. 2012; 171(9):1285–1300

31. Parelkar SV, Kapadnis SP, Sanghvi BV, Joshi PB, Mundada D, Oak SN. Meckel-Gruber syndrome: a rare and lethal anomaly with review of literature. J Pediatr Neurosci. 2013;8(2):154–157

32. Hurd TW, Hildebrandt F. Mechanisms of nephronophthisis and related ciliopathies. Nephron, Exp Nephrol. 2011;118(1):e9–e14

33. Salomon R, Saunier S, Niaudet P. Nephronophthisis. Pediatr Nephrol. 2009;24(12):2333–2344

34. Luo F, Tao Y-H. Nephronophthisis: a review of genotype-phenotype correlation. Nephrology (Carlton). 2018;23(10):904–911



Para ver los comentarios de sus colegas o para expresar su opinión debe ingresar con su cuenta de IntraMed.

Términos y condiciones de uso | Todos los derechos reservados | Copyright 1997-2022