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Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
Published on: June 23, 2015
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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
Summary
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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