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Kidney Week

ASN / Education & Meetings / Kidney Week /
Abstract: TH-PO467

Phenotypic Characterization of Patients with ADPKD with PKD1 and PKD2 Pathogenic Variants Using Advanced Imaging Biomarkers

Session Information

Category: Genetic Diseases of the Kidneys

  • 1201 Genetic Diseases of the Kidneys: Cystic

Authors

  • Borghol, Abdul Hamid, Mayo Clinic in Florida, Jacksonville, Florida, United States
  • Munairdjy Debeh, Fadi George, Mayo Clinic in Florida, Jacksonville, Florida, United States
  • Ghanem, Ahmad, Mayo Clinic in Florida, Jacksonville, Florida, United States
  • Paul, Stefan N., Mayo Clinic in Florida, Jacksonville, Florida, United States
  • Alkhatib, Bassel, Mayo Clinic in Florida, Jacksonville, Florida, United States
  • Nader, Nay, Mayo Clinic in Florida, Jacksonville, Florida, United States
  • Gregory, Adriana, Mayo Clinic Minnesota, Rochester, Minnesota, United States
  • Yang, Hana, Mayo Clinic Minnesota, Rochester, Minnesota, United States
  • Hanna, Christian, Mayo Clinic Minnesota, Rochester, Minnesota, United States
  • Dahl, Neera K., Mayo Clinic Minnesota, Rochester, Minnesota, United States
  • Kline, Timothy L., Mayo Clinic Minnesota, Rochester, Minnesota, United States
  • Harris, Peter C., Mayo Clinic Minnesota, Rochester, Minnesota, United States
  • Chebib, Fouad T., Mayo Clinic in Florida, Jacksonville, Florida, United States
Background

Autosomal dominant polycystic kidney disease (ADPKD), caused by PKD1 and PKD2 pathogenic variants, is the fourth leading cause of kidney failure. The aim of this study is to compare the clinical and imaging biomarkers of ADPKD-PKD1 and ADPKD-PKD2 patients.

Methods

In this retrospective study, 602 ADPKD patients of the Mayo Clinic database were included based on having a pathogenic variant in PKD1T (50%), PKD1NT1 (15%), PKD1NT2 (14%), or PKD2 (21%), and an abdominal imaging prior to any event that could affect kidney volume. Advanced imaging biomarkers were then assessed using an automated cyst segmentation deep learning model as shown in Figure.

Results

Of the included ADPKD patients, 408 (64.8%) were female, with a mean (±SD) age of 42.5 (±14.0) years. ADPKD-PKD1T and ADPKD-PKD1NT1 patients had larger height-adjusted total kidney volume (htTKV), cyst-parenchymal surface area (CPSA), and total cyst number (TCN) compared to ADPKD-PKD1NT2 and ADPKD-PKD2, with PKD1T showing the highest median htTKV (759.9mL/m), CPSA (1190 cm2), and TCN (374). Additionally, median cyst index, defined by the fraction of total cyst volume (TCV) over TKV, was the highest in PKD2 (0.43) and the lowest in PKD1NT2 (0.28). Detailed analysis of the advanced imaging biomarkers is shown in Table.

Conclusion

ADPKD-PKD1T and ADPKD-PKD1NT1 patients have bigger kidneys with more cysts, that occupy a larger total surface area of the parenchyma, compared to ADPKD-PKD1NT2 and ADPKD-PKD2 patients.

Table
 PKD1TPKD1NT1PKD1NT2PKD2p-value
N3039082126 
Age at imaging (yrs),
mean (±SD)		38.5
(12.7)		43.8
(13.7)		44.6
(13.4)		48.9
(14.5)		<0.01
Height-adjusted total kidney volume (htTKV) (mL/m),
median (Q1 – Q3)		759.9
(474.6 – 1236.9)		710.1
(461.4 – 1252.1)		538.0
(338.5 – 802.1)		651.0
(357.4 – 1388.3)		0.07
Percentage of patients with MIC-1C (%)37.1%23.6%26.8%36.9%0.04
Total cyst volume (TCV) (mL),
median (Q1 – Q3)		543.7
(246.9 – 1006.2)		466.2
(203 – 1094.1)		250.2
(96.3 – 563.6)		487.9
(147.2 – 1330.2)		0.02
Renal parenchymal volume (RPV) (mL),
median (Q1 – Q3)		738.1
(539.6 – 1067.7)		705.9
(511.8 – 1115.2)		622
(479.7 – 864)		585.6
(422.7 – 937.7)		0.7
Cyst-parenchymal surface area (CPSA) (cm2),
median (Q1 – Q3)		1190
(636.8 – 2128.3)		1119.6
(532.3 – 2155.7)		785.6
(358.6 – 1308.9)		759
(330 – 1709.3)		<0.01
Total cyst number (TCN),
median (Q1 – Q3)		374
(217 – 599)		362
(190.7 – 562)		298
(157 – 444)		225
(122.3 – 425.3)		<0.01
Cyst index (TKV/TCV),
median (Q1 – Q3)		0.41
(0.29 – 0.49)		0.35
(0.27 – 0.54)		0.28
(0.17 – 0.43)		0.43
(0.24 – 0.57)		<0.01

Figure: Advanced imaging biomarkers using deep-learning segmentation tool.