MR Brain Screening in ADPKD Patients

• DOI: 10.1007/s00062-021-01050-0
• Publication Date: 2021-09-29T12:03:16Z
• Authors: I. Capelli; M. Zoli; M. Righini; L. Faccioli; V. Aiello; L. Spinardi; D. Gori; F. Friso; A. Rustici; C. Bortolotti; C. Graziano; V. Mantovani; N. Sciascia; D. Mazzatenta; M. Seri; M. Pastore Trossello; G. La Manna
• Keywords: Adult; 03 medical and health sciences; TRPP Cation Channels; 0302 clinical medicine; Mutation; Brain; Humans; Original Article; Polycystic Kidney, Autosomal Dominant; Retrospective Studies; 3. Good health

Abstract Background Adult polycystic kidney disease (ADPKD) still represents a major cause of renal failure and intracranial aneurisms (IA) have a higher prevalence in ADPKD than in the general population. Current guidelines suggest performing brain MRI only in the subjects with a positive familiar history of IAs or subarachnoid hemorrhage (SAH). This is a retrospective case-control analysis to evaluate the usefulness of a MR screening program in ADPKD patients.

Methods We retrospectively analyzed all ADPKD patients followed in our outpatient clinic between 2016 and 2019 who underwent a brain MRI screening. We evaluated the presence of IAs and others brain abnormalities and compared our results with a non-ADPKD population (n = 300). We performed univariate and multivariate regression analysis to evaluate if general and demographic features, laboratory findings, clinical parameters and genetic test results correlated with IAs or other brain abnormalities presence.

Results Among the patients evaluated 17 out of 156 (13.6%) ADPKD patients had IAs, compared to 16 out of 300 (5.3%) non-ADPKD controls (p < 0.005). Considering ADPKD patients presenting IAs, 12 (70.6%) had no family history for IAs or SAH. Genetic analysis was available for 97 patients: in the sub-population with IAs, 13 (76.5%) presented a PKD1 mutation and none a PKD2 mutation. We found that arachnoid cysts (AC) (p < 0.001) and arterial anatomical variants (p < 0.04) were significantly more frequent in ADPKD patients.

Conclusion In our population ADPKD patients showed a higher prevalence of IAs, AC and arterial variants compared to non-ADPKD. Most of the IAs were found in patients presenting a PKD1 mutation. We found a significant number of alterations even in those patients without a family history of IAs or SAH. The practice of submitting only patients with familial IAs or kidney transplantation candidates to MRI scan should be re-evaluated.