Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease

Fouad T. Chebib, Yeonsoon Jung, Christina M. Heyer, Maria V. Irazabal, Marie C. Hogan, Peter C. Harris, Vicente E. Torres, Ziad M. El-Zoghby

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


Background The autosomal dominant polycystic kidney disease (APDKD) genotype influences renal phenotype severity but its effect on polycystic liver disease (PLD) is unknown. Here we analyzed the influence of genotype on liver phenotype severity. MethodsClinical data were retrieved from electronic records of patients who were mutation screened with the available liver imaging (n = 434). Liver volumes were measured by stereology (axial or coronal images) and adjusted to height (HtLV). ResultsAmong the patients included, 221 (50.9%) had truncating PKD1 (PKD1-T), 141 (32.5%) nontruncating PKD1 (PKD1-NT) and 72 (16.6%) PKD2 mutations. Compared with PKD1-NT and PKD2, patients with PKD1-T had greater height-adjusted total kidney volumes (799 versus 610 and 549 mL/m; P < 0.001). HtLV was not different (1042, 1095 and 1058 mL/m; P = 0.64) between the three groups, but females had greater HtLVs compared with males (1114 versus 1015 mL/m; P < 0.001). Annualized median liver growth rates were 1.68, 1.5 and 1.24% for PKD1-T, PKD1-NT and PKD2 mutations, respectively (P = 0.49), and remained unaffected by the ADPKD genotype when adjusted for age, gender and baseline HtLV. Females <48 years of age had higher annualized growth rates compared with those who were older (2.65 versus 0.09%; P < 0.001). After age 48 years, 58% of females with severe PLD had regression of HtLV, while HtLV continued to increase in males. ConclusionsIn contrast to the renal phenotype, the ADPKD genotype was not associated with the severity or growth rate of PLD in ADKPD patients. This finding, along with gender influence, indicates that modifiers beyond the disease gene significantly influence the liver phenotype.

Original languageEnglish (US)
Pages (from-to)952-960
Number of pages9
JournalNephrology Dialysis Transplantation
Issue number6
StatePublished - Jun 24 2016


  • PLD
  • genotype-phenotype
  • polycystic liver

ASJC Scopus subject areas

  • Nephrology
  • Transplantation


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