Kidney Week

Abstract: SA-PO597

Prevalence and Severity of Polycystic Liver Disease (PLD) in Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Session Information

• Cystic Kidney Diseases: Genetic Causes, Modifiers, and Extrarenal Manifestations
  October 26, 2024 | Location: Exhibit Hall, Convention Center
  Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

• 1201 Genetic Diseases of the Kidneys: Cystic

Authors

• Dehkharghanian, Taher, University Health Network, Toronto, Ontario, Canada

Taher Dehkharghanian, MD, MSc

• Miranda Cam, Mauricio Alejandro, University Health Network, Toronto, Ontario, Canada

Mauricio Alejandro Miranda Cam, MD

• Carriazo Julio, Sol Maria, University Health Network, Toronto, Ontario, Canada

Sol Maria Carriazo Julio, MD

• Song, Xuewen, University Health Network, Toronto, Ontario, Canada

Xuewen Song, PhD

• Sarie, Yasmina, University of Toronto, Toronto, Ontario, Canada

Yasmina Sarie

• Khowaja, Saima, University Health Network, Toronto, Ontario, Canada

Saima Khowaja

• Kline, Timothy L., Mayo Clinic Minnesota, Rochester, Minnesota, United States

Timothy L. Kline, MS, PhD

• Pei, York, University Health Network, Toronto, Ontario, Canada

York Pei, MD, FASN

Background

Liver cysts are common in patients with ADPKD, but the prevalence of clinically significant PLD has not been well defined. Here we report the prevalence, severity and clinical characteristics of PLD from the Toronto Genetic Epidemiology Study of PKD (TGESP), a large prospective cohort study of patients with ADPKD from the Greater Toronto Area.

Methods

All study patients underwent a research protocol with detailed clinical, laboratory (including genetic testing) and abdominal MRI between 2013-2023. An automate liver segmentation model was applied on coronal T2 MRI to calculate TLV and HtTLV. We analyzed baseline clinical characteristics and liver volume measurements of 617 study patients who were found to have a PKD1 protein-truncating (PT), PKD1 (inframe insertion/deletion), PKD1 non-truncating (NT), or PKD2 mutation. Patients were divided into quartiles based on their HtTLV and clinical characteristics, shown in Table 1.

Results

The mean ± sd of TLV and HtTLV of the study cohort were 2163 ± 1466 ml and 1251 ± 856 ml/m; 57% were female. In total, 25% of patients had high HtTLV ranging between 1309 to 8810 ml/m (Figure 1A). The average HtTLV was larger in patients with PKD1 PT mutations in all age groups. However, the difference was only significant between PKD1 NT and PKD1 PT of age 50-59 years (p value: 0.02). Statistically significant positive correlations between HtTLV and TLV were seen among the three mutation classes (Figure 1B).

Conclusion

Up to 25% of patients with ADPKD have moderate to severe PLD (i.e. 2.5 to 10x normal LV). TLV and volume growth rate appeared to be higher in PKD1 PT patients. Multivariate analysis including age, sex, body mass index will be performed to delineate the effects of mutation class on PLD severity.

Funding

• Government Support – Non-U.S.