Polycystic kidney disease

Definition:

Polycystic kidney disease (PKD) is the most common life-threatening genetic disease characterized by bilateral cyst formation on the kidneys. It is often associated with liver cysts.

References:

[1]. Binu Porath, et al. Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. Am J Hum Genet. 2016 Jun 2;98(6):1193-1207. [Content Brief]

[2]. Carsten Bergmann, et al. Educational paper: ciliopathies. Eur J Pediatr. 2012 Sep;171(9):1285-300. [Content Brief]

[3]. Emilie Cornec-Le Gall, et al. Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease. Am J Hum Genet. 2018 May 3;102(5):832-844. [Content Brief]

[4]. Hannah C Chapin, et al. The cell biology of polycystic kidney disease. J Cell Biol. 2010 Nov 15;191(4):701-10. [Content Brief]

[5]. Hao Lu, et al. Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. Nat Genet. 2017 Jul;49(7):1025-1034. [Content Brief]

[6]. Mario Strazzabosco, et al. Polycystic liver diseases: congenital disorders of cholangiocyte signaling. Gastroenterology. 2011 Jun;140(7):1855-9, 1859.e1. [Content Brief]

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