摘要：

Fig. 1. Molecular background of PLD. (A) Overview of genetic distribution of ADPKD and ADPLD. Each colour represents the percentage of patients with a specific germline mutation. (B) Proposed mechanism of liver cyst formation. PLD patients with a germline mutation acquire a second mutation in the wild-type allele (second hit) that results in deficient glycoprotein assembly and control, and subsequent decrease of polycystin-1 expression. The concurrent decrease in calcium influx leads to increased levels of cAMP and cyst formation through cell proliferation and fluid secretion. ADPKD, autosomal dominant polycystic kidney disease; ADPLD, autosomal dominant polycystic liver disease; cAMP, cyclic adenosine monophosphate; ER, endoplasmic reticulum; GII, Glucosidase II; GUR, Genetically unresolved; PLD, polycystic liver disease.

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