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. 2025 Mar;38(2):621-631.
doi: 10.1007/s40620-024-02181-6. Epub 2025 Feb 10.

The need for clinical, genetic and radiological characterization of atypical polycystic kidney disease

Matteo Righini #  1 , Cristiana Corsi #  2 , Nicola Sciascia  3 , Valeria Aiello  4 , Francesca Ciurli  4 , Sarah Lerario  4 , Gian Marco Berti  5 , Francesca Montanari  6 , Amalia Conti  6 , Carlotta Pia Cristalli  6 , Soara Menabò  6 , Luca Caramanna  5 , Francesco Tondolo  4 , Daniela Turchetti  5   6 , Gaetano La Manna  7   8 , Irene Capelli  4   5
Affiliations

The need for clinical, genetic and radiological characterization of atypical polycystic kidney disease

Matteo Righini et al. J Nephrol. 2025 Mar.

Abstract

Background: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a monogenic disease having a prevalence of 1:400-1000 live births. Depending on kidney imaging, patients can be subdivided into Class 1 (typical) and Class 2 (atypical). The present study aims to provide better assessment of Class 2 patients to help define their family history, together with their clinical and radiological characteristics.

Methods: One hundred twenty-four PKD patients with abdominal Magnetic Resonance Imaging (MRI) for the staging of ADPKD, were retrospectively analyzed, aiming to focus on Class 2 ADPKD patients. Total kidney volume and total cyst volume were evaluated, while also assessing their clinical and genetic characteristics.

Results: Twelve patients fulfilled the Mayo criteria for Class 2 ADPKD (two Class 2B and ten Class 2A). Extrarenal involvement was observed in 66.7% of cases, but only two subjects presented an estimated Glomerular Filtration Rate (eGFR) < 60 mL/min/1.73 m2. A positive family history for cystic disease was more frequent compared to other published cohorts. Only 8.3% tested positive for a likely pathogenic mutation in the PKD1 gene. Class 2B patients showed a lower height-adjusted total kidney volume, with a lower percentage of total cyst volume.

Conclusion: Based on our results, atypical ADPKD does not represent an uncommon condition, being present in about 10% of MRI-evaluated patients diagnosed with ADPKD. Genetic tests are frequently negative for PKD1/PKD2, and total cyst volume and residual tissue volume do not increase the prognostic value of MRI in patients with these radiological characteristics. Other tools are needed to better characterize their kidney prognosis.

Keywords: ADPKD; Atypical; Genetics; Total kidney volume.

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Conflict of interest statement

Declarations. Conflict of interest: The authors have no relevant financial or non-financial interests to disclose. Ethical approval: This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the local Ethics Committee (306/2021/Oss/AOUBo). Ethical review and approval were waived for this study because, according to local policy, informed consent is considered sufficient for reports of an observational nature concerning a limited number of patients. Consent to participate: Informed consent was obtained from all individual participants included in the study. Patients signed informed consent regarding publishing their data and photographs.

Figures

Fig. 1
Fig. 1
MRI scans of each patient (Pt1-Pt12). (Pt1) Class 2B, bilateral atrophy presentation; (Pt2) Class 2A, lopsided presentation; (Pt3) Class 2A, unilateral presentation; (Pt4) Class 2B, bilateral atrophy presentation; (Pt5) Class 2A, lopsided presentation; (Pt6) Class 2A, lopsided presentation; (Pt7) Class 2A, mild lopsided presentation; (Pt8) Class 2A, asymmetric presentation; (Pt9) Class 2A, lopsided presentation; (Pt10) Class 2A, asymmetric presentation; (Pt11) Class 2A, lopsided presentation; (Pt12) Class 2A, unilateral presentation
Fig. 2
Fig. 2
A Comparison between Class 2A and 2B patients’ htTKV, TCV and RTV. *p value < 0.05. B Comparison of htTKV, TCV and RTV between progressors and non-progressors
See this image and copyright information in PMC

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