What are the pathophysiology and etiology of polycystic liver disease (PCLD)?

Updated: Jun 12, 2018
  • Author: Robert E Glasgow, MD; Chief Editor: John Geibel, MD, DSc, MSc, AGAF  more...
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Answer

Adult PCLD (AD-PCLD) is congenital and is usually associated with autosomal dominant polycystic kidney disease (AD-PKD). Mutations in these patients have been identified in PKD1 and PKD2 genes. Occasionally, PCLD has been reported in the absence of polycystic kidney disease (PKD). In these patients, a third gene, protein kinase C substrate 80K-H (PRKCSH), has been identified. Despite these differences in genotype, patients with PCLD are similar phenotypically. [2]

In patients with PKD, the kidney cysts usually precede the liver cysts. PKD often results in renal failure, whereas liver cysts only rarely are associated with hepatic fibrosis and liver failure.


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