Polykystose Rénale : Diagnostic 6/6

Polykystose Rénale : Diagnostic 6/6pearlweb2022-12-04T19:24:27+01:00

Références bibliographiques

 

• Références Epidémiologie :
• – Simon, P. et al. [Epidemiologic data, clinical and prognostic features of autosomal dominant polycystic kidney disease in a French region]. Nephrologie 17, 123–130 (1996)
• – Simon, P. Prognosis of autosomal dominant polycystic kidney disease. Nephron 71, 247–248 (1995).
• – Cornec- Le Gall, E. et al. The PROPKD score: a new algorithm to predict renal survival in autosomal dominant polycystic kidney disease. J. Am. Soc. Nephrol. 27, 942–951 (2016)
• – Autosomal dominant polycystic kidney disease. Cornec-Le Gall E, Alam A, Perrone RD. Lancet. 2019 Mar 2;393(10174):919-935.

 

• Références Physiopathologie :
• Cornec– Le Gall, E., Torres, V. E. & Harris, P. C. Genetic, complexity of autosomal dominant polycystic kidney and liver diseases. J. Am. Soc. Nephrol. 29, 13–23 (2018).
• Porath, B. et al. Mutations in GANAB, encoding the glucosidase IIα subunit, cause autosomal- dominant polycystic kidney and liver disease. Am. J. Hum. Genet. 98, 1193–1207 (2016).
• Besse, W. et al. Isolated polycystic liver disease genes define effectors of polycystin-1 function. J. Clin. Invest.127, 3558 (2017).
• Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on. Cornec-Le Gall E, Audrézet MP, Le Meur Y, Chen JM, Férec C.Hum Mutat. 2014 Dec;35(12):1393-406
• Molecular pathways involved in injury-repair and ADPKD progression. Formica C, Peters DJM. Cell Signal 2020 Aug;72:109648.

 

• Références Impact de la Génétique :
• PEI et al. J Am Soc Nephrol 20: 205–212, 2009
• Belibi et al.,JASN 2009 Jan;20(1):6-.
• Bergmann et al.,Nat Rev Dis Primers, 2018 Dec 6;4(1):50.
• Emilie Cornec-Le Gall et al., JASN 24: 1006–1013, 201
• Iliuta et al., JASN 2017 Sep;28(9):2768-2776.

 

• Références Diagnostic différentiel :
• Nephrol Dial Transplant (2016) 31: 337-348
• Cornec- Le Gall, E. et al. The PROPKD score: a new algorithm to predict renal survival in autosomal dominant polycystic kidney disease. J. Am. Soc. Nephrol. 27, 942–951 (2016).
• Bergmann et al.,Nat Rev Dis Primers, 2018 Dec 6;4(1):50.
• Clinical practice. Autosomal dominant polycystic kidney disease.Grantham et al. NEJM 2008