MR Brain Screening in ADPKD Patients

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.

Autosomal Dominant Polycystic Kidney Disease: Extrarenal Involvement

“…Most ACs are considered congenital and asymptomatic. However, their prevalence is greater in ADPKD patients compared to non-ADPKD patients [ 88 , 89 ]. The reported prevalence of ACs in ADPKD ranges from 4.8% to 12.8%, whereas in the broader population, it is around 0.5% to 1.1%.…”

“…The incidence of IAs in ADPKD is reported to be 4–5 times greater than in the general population, with estimates ranging from 9% to 12% compared to 2% to 3%. The IAs in these patients are usually more numerous and rupture 10 years earlier than in the general population [ 88 , 100 ]. There are modifiable and nonmodifiable risk factors associated with IAs’ rupture.…”

“…Fenestrations, in particular, can create turbulent flow and defects in the arterial segment, increasing the risk of aneurysm formation. Other arterial variants like duplications and azygos configurations may also promote aneurysm development through turbulent flow [ 88 , 112 , 113 ]. The rupture of intracranial aneurysms in ADPKD can lead to severe neurological complications and high morbidity and mortality rates, exceeding 50% of cases.…”

All Patients with ADPKD Should Undergo Screening for Intracranial Aneurysms: PRO

“…8 While Kidney Disease Improving Global Outcomes recommends that screening be restricted because of small size of aneurysms detected, some data suggest that the aneurysms seen in ADPKD compared with the general population are more susceptible to rupture at smaller sizes (median size 6 mm rather than 8 mm in general population). 2,8 An earlier retrospective study of 71 patients with ADPKD with ruptured aneurysms in Europe found that aneurysm rupture presented as the initial manifestation of ADPKD in 10%, was fatal in 10%, and left 38% severely disabled. 9 In this cohort, only ten individuals (14%) had a proven or likely family history of ICA.…”

All Patients with ADPKD Should Undergo Screening for Intracranial Aneurysms: CON

“…Although effective IA screening and management are crucial, the optimal approach to screening, particularly the target populations and frequency, remains debated. 7 The pivotal question is whether a diagnosis of ADPKD alone is sufficient grounds for a routine brain magnetic resonance angiography or whether additional risk factors should be considered before initiating screening.…”