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Original ArticlesCystic Kidney Disease
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Patients with Protein-Truncating PKD1 Mutations and Mild ADPKD

Matthew B. Lanktree, Elsa Guiard, Pedram Akbari, Marina Pourafkari, Ioan-Andrei Iliuta, Syed Ahmed, Amirreza Haghighi, Ning He, Xuewen Song, Andrew D. Paterson, Korosh Khalili and York P.C. Pei
CJASN March 2021, 16 (3) 374-383; DOI: https://doi.org/10.2215/CJN.11100720
Matthew B. Lanktree
1Division of Nephrology, University Health Network and University of Toronto, Toronto, Ontario, Canada
2Division of Nephrology, St. Joseph’s Healthcare Hamilton and McMaster University, Hamilton, Ontario, Canada
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Elsa Guiard
1Division of Nephrology, University Health Network and University of Toronto, Toronto, Ontario, Canada
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Pedram Akbari
1Division of Nephrology, University Health Network and University of Toronto, Toronto, Ontario, Canada
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Marina Pourafkari
3Department of Medical Imaging, University Health Network and University of Toronto, Toronto, Ontario, Canada
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Ioan-Andrei Iliuta
1Division of Nephrology, University Health Network and University of Toronto, Toronto, Ontario, Canada
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Syed Ahmed
1Division of Nephrology, University Health Network and University of Toronto, Toronto, Ontario, Canada
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Amirreza Haghighi
1Division of Nephrology, University Health Network and University of Toronto, Toronto, Ontario, Canada
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Ning He
1Division of Nephrology, University Health Network and University of Toronto, Toronto, Ontario, Canada
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Xuewen Song
1Division of Nephrology, University Health Network and University of Toronto, Toronto, Ontario, Canada
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Andrew D. Paterson
4Program in Genetics and Genome Biology, The Hospital for Sick Children, Ontario, Canada
5Division of Epidemiology and Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada
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Korosh Khalili
3Department of Medical Imaging, University Health Network and University of Toronto, Toronto, Ontario, Canada
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York P.C. Pei
1Division of Nephrology, University Health Network and University of Toronto, Toronto, Ontario, Canada
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Abstract

Background and objectives Progression of autosomal dominant polycystic kidney disease (ADPKD) is highly variable. On average, protein-truncating PKD1 mutations are associated with the most severe kidney disease among all mutation classes. Here, we report that patients with protein-truncating PKD1 mutations may also have mild kidney disease, a finding not previously well recognized.

Design, setting, participants, & measurements From the extended Toronto Genetic Epidemiologic Study of Polycystic Kidney Disease, 487 patients had PKD1 and PKD2 sequencing and typical ADPKD imaging patterns by magnetic resonance imaging or computed tomography. Mayo Clinic Imaging Classification on the basis of age- and height-adjusted total kidney volume was used to assess their cystic disease severity; classes 1A or 1B were used as a proxy to define mild disease. Multivariable linear regression was performed to test the effects of age, sex, and mutation classes on log-transformed height-adjusted total kidney volume and eGFR.

Results Among 174 study patients with typical imaging patterns and protein-truncating PKD1 mutations, 32 (18%) were found to have mild disease on the basis of imaging results (i.e., Mayo Clinic Imaging class 1A–1B), with their mutations spanning the entire gene. By multivariable analyses of age, sex, and mutation class, they displayed mild disease similar to patients with PKD2 mutations and Mayo Clinic Imaging class 1A–1B. Most of these mildly affected patients with protein-truncating PKD1 mutations reported a positive family history of ADPKD in preceding generations and displayed significant intrafamilial disease variability.

Conclusions Despite having the most severe mutation class, 18% of patients with protein-truncating PKD1 mutations had mild disease on the basis of clinical and imaging assessment.

Podcast This article contains a podcast at https://www.asn-online.org/media/podcast/CJASN/2021_02_18_CJN11100720_final.mp3

  • polycystic kidney disease
  • genetic kidney disease
  • ADPKD
  • human genetics
  • mutation
  • Received July 7, 2020.
  • Accepted December 17, 2020.
  • Copyright © 2021 by the American Society of Nephrology
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Clinical Journal of the American Society of Nephrology: 16 (3)
Clinical Journal of the American Society of Nephrology
Vol. 16, Issue 3
March 08, 2021
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Patients with Protein-Truncating PKD1 Mutations and Mild ADPKD
Matthew B. Lanktree, Elsa Guiard, Pedram Akbari, Marina Pourafkari, Ioan-Andrei Iliuta, Syed Ahmed, Amirreza Haghighi, Ning He, Xuewen Song, Andrew D. Paterson, Korosh Khalili, York P.C. Pei
CJASN Mar 2021, 16 (3) 374-383; DOI: 10.2215/CJN.11100720

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Patients with Protein-Truncating PKD1 Mutations and Mild ADPKD
Matthew B. Lanktree, Elsa Guiard, Pedram Akbari, Marina Pourafkari, Ioan-Andrei Iliuta, Syed Ahmed, Amirreza Haghighi, Ning He, Xuewen Song, Andrew D. Paterson, Korosh Khalili, York P.C. Pei
CJASN Mar 2021, 16 (3) 374-383; DOI: 10.2215/CJN.11100720
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Keywords

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