Skip to main content

Table 1 Genetic and diagnostic determinants of PCLD and ADPKD

From: Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management

  Polycystic liver disease(PCLD) Autosomal dominant polycystic kidney disease (ADPKD) Reference
Genotype    
Cytogenetic gene location (mutation frequency%) Chr.19p13.2: PRKCSH (15%) Chr.16p13.3: PKD1 (75.7%) [62, 63]
Chr.6q21: SEC63 (5.7%) Chr.4q21: PKD2 (13.4%)
Mutation (type; N,%) 25 PRKCSH 22 SEC63 980 PKD1 193 PKD2 [HGMD]
missense 4 (16%) 6 (27.3%) 250 (25%) 29 (15%)
splice site 4 (16%) 3 (13.6%) 77 (7.8%) 32 (16.6%)
insertion/deletion 10 (40%) 7 (31.8%) 440 (45%) 80 (41.5%)
indel 1 (4%) - 13 (1.4%) 7 (3.6%)
nonsense 6 (24%) 6 (27.3%) 202 (20%) 45 (23.3%)
complex rearrangement - 8 (0.8%) -
Gene product; protein localization Cholangiopathy Ciliopathy [13, 60]
Hepatocystin/ glucosidase II-β subunit; ER Polycystin-1 (TRPP1); primary cilium, tight junction, extracellular matrix, ER
Translocation protein SEC63 homolog;
Polycystin-2 (TRPP2); primary cilium, tight junction, extracellular matrix, ER
ER, membrane complex
Protein function Proper protein folding and protein quality control PC-1 and PC-2 form a mechanosensor complex on the primary cilium [13, 60]
Posttranslational protein transport PC-1 for signaling detection, PC-2 is a TRP channel for calcium influx
Predominant phenotype   
Liver features Positive family history with: Most common extra-renal manifestation: 83% with a polycystic liver (>20 hepatic cysts) [14, 64]
PCLD diagnostic criteria:
Clinical practice: <40 years and ≥1 hepatic cyst
≥40 years and ≥4 hepatic cysts
30-70 years and polycystic liver (>20 hepatic cysts)
Kidney features Incidental finding without renal disease: 28-35% with renal cystogenesis Positive family history with unknown genotype: [15, 19, 65, 66]
ADPKD diagnostic criteria:
15-39 years and 3 renal cysts#
40-59 years and 2 renal cysts*
≥60 years and 4 renal cysts*
Negative family history:
<30 years and 5 renal cysts$
30-60 years and 5 renal cysts$
   >60 years and 8 renal cysts$  
  1. Description of the data: A detailed overview of genotype characteristics and diagnostic criteria for PCLD and ADPKD phenotype assessment.
  2. # unilateral or bilateral.
  3. * in each kidney.
  4. $ bilateral.