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Atypical Polycystic Kidney Disease as defined by Imaging

Ioan-Andrei Iliuta1, Aung Zaw Win2, Matthew B Lanktree3

  • 1Division of Nephrology, Department of Medicine, University Health Network and University of Toronto, 8N838, 585 University Avenue, Toronto, ON, M5G 2N2, Canada.

Scientific Reports
|February 22, 2023
PubMed

Insights

Atypical autosomal dominant polycystic kidney disease (ADPKD) imaging patterns identify a distinct patient group. These individuals are older, less likely to have genetic mutations, and show a low risk of chronic kidney disease (CKD) progression.

Area of Science:

  • Nephrology
  • Medical Imaging
  • Genetics

Background:

  • Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder.
  • The Mayo Clinic Imaging Classification aids in assessing chronic kidney disease (CKD) risk in ADPKD.
  • Patients with atypical imaging patterns are excluded and poorly characterized.

Purpose of the Study:

  • To determine the prevalence and characteristics of atypical ADPKD by imaging.
  • To compare clinical, genetic, and prognostic features of atypical versus typical ADPKD.
  • To define the renal prognosis for patients with atypical ADPKD imaging.

Main Methods:

  • Analysis of patients from the Toronto Genetic Epidemiology Study of Polycystic Kidney Disease (2016-2018).
  • Inclusion of clinical questionnaires, kidney function tests, genetic testing, and MRI/CT imaging.
  • Comparison of prevalence, clinical features, genetics, and renal outcomes between atypical and typical ADPKD groups.

Main Results:

  • 8.8% of patients (46/523) exhibited atypical ADPKD imaging.
  • Atypical ADPKD patients were older, less likely to have a family history or detectable PKD1/PKD2 mutations.
  • Atypical ADPKD patients showed significantly lower rates of progression to CKD stages 3 or 5.

Conclusions:

  • Atypical ADPKD by imaging represents a distinct clinical and genetic entity.
  • These patients have a favorable prognosis with a low likelihood of CKD progression.
  • Further research into atypical ADPKD imaging patterns is warranted.

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