Autosomal dominant polycystic kidney disease in children

Abstract

Purpose of review Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease, affecting one in 500 individuals. The cardinal manifestation of ADPKD is progressive cystic dilatation of renal tubules with kidney enlargement and progression to end-stage renal disease in approximately half of cases by 60 years of age. Although previously considered a condition of adults, it is clear that children and young adults are subject to the complications of ADPKD. Recent findings It has been increasingly recognized that interventions early in life are necessary in order to confer the best long-term outcome in this common condition. Therefore, it is imperative for pediatricians to recognize the manifestations and complications of this disease. Until recently ADPKD management focused on general principles of chronic kidney disease. However, several recent clinical trials in children and adults with ADPKD have focused on disease-specific therapies. Summary This review will highlight the clinical manifestations, diagnosis, and appropriate management of ADPKD in childhood and will review recent relevant clinical trials in children and adults with this condition.

Therapies for Childhood Polycystic Kidney Disease

“…This study found that ACEi treatment in normotensive (BP 75 to 95th percentile) or borderline hypertensive (BP ≤75 percentile) children with ADPKD could prevent or significantly reduce the development of LVH and the decline in renal function [71]. These benefits occurred in the absence of any positive effect on kidney volume [58,68,71]. Surprisingly, these secondary benefits of ACEi did not apply to hypertensive ADPKD children [71].…”

“…Renal manifestations in children with ADPKD are comparable to renal manifestations in affected adults [58]. In adult ADPKD, creatinine levels rise only in the advance stages of disease after non-cystic parenchyma has been permanently destroyed by expanding renal cysts.…”

“…Despite the classic presentation as an adult disease, ADPKD can have clinical manifestations including structural kidney disease, in infants, children and young adults [3,10,[56][57][58]. As many as 5% of all ADPKD patients present in childhood with a broad phenotypic spectrum, ranging from severe neonatal presentations mimicking ARPKD to renal cysts that remain clinically silent well into adulthood [58][59][60][61]. Additionally, as many as 17% of children and adolescents with ADPKD will exhibit unilateral cystic kidneys at initial presentation [10].…”

“…A growing body of evidence suggests that hypertension, cardiovascular abnormalities, and increased kidney volume precede the development of symptoms in affected children [66,67]. Furthermore, studies have shown that targeting modifiable risk factors early in the disease can significantly slows progression [58,[66][67][68]. Consequently, clinicians should be aware of these factors and pediatric patients with ADPKD should be monitored closely.…”

Long-Term Outcomes in Patients with Very-Early Onset Autosomal Dominant Polycystic Kidney Disease

“…Early intervention may have the greatest effect on the course of the disease by minimizing long-term complications [26,27]. Given that there is great heterogeneity in ADPKD progression, even within a given family [10], early intervention may be of particular significance to patients at the highest risk of progression, which notably includes VEO patients.…”