[Polycystic liver disease without autosomal dominant polycystic kidney disease]

Area of Science:

• Hepatology
• Medical Genetics

Background:

• Polycystic liver disease (PLD) is defined by numerous liver cysts originating from bile ducts.
• Its clinical course is often described in the context of autosomal dominant polycystic kidney disease (ADPKD).
• Isolated PLD, independent of ADPKD, is recognized but potentially underdiagnosed.

Observation:

• A specific gene for autosomal dominant PLD has been localized to chromosome 19p 13.2-13.1.
• This genetic locus suggests a distinct etiology for isolated PLD compared to ADPKD-associated PLD.
• The pathogenesis and clinical presentation of isolated PLD can resemble that of ADPKD-associated PLD.

Findings:

• This report details two male patients diagnosed with polycystic liver disease unrelated to ADPKD.
• Diagnostic imaging, including ultrasound and computed tomography, successfully identified the liver lesions without invasive procedures.
• These cases highlight the existence of genetically distinct forms of PLD.

Implications:

• Isolated polycystic liver disease is an underdiagnosed condition with its own genetic basis.
• Non-invasive imaging modalities are effective for diagnosing PLD.
• Further research into the genetics and clinical management of isolated PLD is warranted.