Should we screen for intracranial aneurysms in children with autosomal dominant polycystic kidney disease?

Abstract

This is an overview of the challenges associated with screening for asymptomatic intracranial aneurysms (ICA) in children with autosomal dominant polycystic kidney disease (ADPKD). ADPKD is the most common inherited kidney disease affecting 1 in 1,000 people. ICAs are an extra-kidney manifestation of ADPKD, and while the exact pathophysiology of how they develop is unknown, we know that they more commonly occur in the adult rather than paediatric population. ICAs can be found in up to 9–11.5% of adults with ADPKD, but ICA rupture remains a rare event in adults with an incidence of 0.04 per 100 patient years. ICA size is an important factor in determining the risk of aneurysm rupture and therefore affects the decision on intervention in asymptomatic adults. For some, unruptured aneurysms cause no clinical significance, but those that rupture can be associated with devastating morbidity and mortality. Therefore, if detected, the treatment for unruptured ICAs is usually endovascular coiling, alongside recognising the importance of preventative interventions such as hypertension management. There are, however, no current guidelines for either adult or paediatric patients with ADPKD supporting regular screening for asymptomatic ICAs, although there is a suggestion for individualised practice, for example, with those with a positive family history. The UK clinical guidelines for ADPKD in children make research recommendations due to a lack of published literature, which in itself indicates that ICA rupture is an extremely rare phenomenon in children.

Unraveling the Complexity of Childhood Polycystic Kidney Disease: A Case Study of Three Sisters

“…In rare cases with a positive family history and a strong desire to ease anxiety by screening, an individualized approach is justified [19]. Walker and Marlais suggest that an individual approach should be sought, and the families should be counselled about the potential of having an unruptured intracranial aneurysm [20]. Blood pressure monitoring, follow-up of renal function and ultrasound, as well as MRI angiography for screening of intracranial aneurysms in patients at high risk, is recommended [19].…”

Autosomal dominant polycystic kidney disease in young adults

“…This raises the need for early cranial MR angiography in young adults from at-risk families [ 16 ]. In this regard, rupture of brain aneurysms has been described in childhood, although it is extremely rare [ 45 ].…”