MR Brain Screening in ADPKD Patients : To Screen or not to Screen?

Clin Neuroradiol. 2022 Mar;32(1):69-78. doi: 10.1007/s00062-021-01050-0. Epub 2021 Sep 29.

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.

Keywords: Acute complications screening; Arachnoid cysts; Genetic nephropathies; Intracranial aneurysms; Polycystic disease.

MeSH terms

  • Adult
  • Brain
  • Humans
  • Mutation
  • Polycystic Kidney, Autosomal Dominant* / diagnostic imaging
  • Polycystic Kidney, Autosomal Dominant* / genetics
  • Retrospective Studies
  • TRPP Cation Channels / genetics

Substances

  • TRPP Cation Channels