Polycystic liver disease

Definition:

Isolated polycystic liver disease is an inherited disorder in which cysts occur only in the liver without renal involvement. The two genes, PRKCSH, encoding hepatocystin, and SEC63, are found in patients with isolated polycystic liver disease.

References:

[1]. Airong Li, et al. Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. Am J Hum Genet. 2003 Mar;72(3):691-703. [Content Brief]

[2]. F Temmerman, et al. Systematic review: the pathophysiology and management of polycystic liver disease. Aliment Pharmacol Ther. 2011 Oct;34(7):702-13. [Content Brief]

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

[4]. Sonia Davila, et al. Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nat Genet. 2004 Jun;36(6):575-7. [Content Brief]

[5]. Whitney Besse, et al. Isolated polycystic liver disease genes define effectors of polycystin-1 function. J Clin Invest. 2017 May 1;127(5):1772-1785. [Content Brief]

[6]. Wybrich R Cnossen, et al. Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis. Proc Natl Acad Sci U S A. 2014 Apr 8;111(14):5343-8. [Content Brief]

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