Investigators from Great Ormond Street Hospital for Children, London, conducted a retrospective study of children with autosomal dominant polycystic kidney disease (ADPKD) to compare the renal outcomes in children detected because of symptoms versus those discovered through family screening. Data on children who were referred with a clinical suspicion of ADPKD between 1987 and 2007 were reviewed.
Study patients included 31 children (17 male) who were asymptomatic and diagnosed by ultrasound screening (Group 1), and 16 (9 male) who presented with symptoms (Group 2). Presenting symptoms in those in Group 2 included urinary tract infection in six, and abdominal, back, or loin pain in five. Mean age at diagnosis (Group 1: 7.7 years; Group 2: 6.3 years) and at last follow-up (Group 1: 12.4 years; Group 2: 11.1 years) was similar in the two groups. At last follow-up, enlarged kidneys were present in 51% of Group 1 patients and 56% of Group 2 patients. There were also no differences in the rates of hypertension (15%), microalbuminuria (36%), or decreased glomerular filtration rate (39%) between children in the two groups. An additional 15% of patients had borderline hypertension at last follow-up.
The authors conclude that children at risk for ADPKD should be screened for hypertension and microalbuminuria as overt abnormalities do occur.
Dr Greenbaum has disclosed no financial relationship relevant to this commentary. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.
ADPKD, which affects 1 in 500 to 1,000 people, is more common than cystic fibrosis and sickle cell disease combined and it is one of the most common causes of end stage renal disease in adults.3 A child of a parent with ADPKD has a 50% chance of inheriting the disease. Yet, ADPKD receives limited emphasis in pediatrics because it is considered to be an adult disease, without the need for therapeutic intervention during childhood.
Previous studies have shown that children with a diagnosis of ADPKD are at increased risk for developing hypertension and that even the presence of borderline hypertension increases the risk of left ventricular hypertrophy in this patient population.1–2 Nevertheless, current recommendations are to defer imaging or genetic testing in children at risk for ADPKD, partially due to concerns about medical insurance and the psychological stress of diagnosis.3 In contrast, diagnostic evaluation, including ultrasound of the kidneys, commonly occurs in children with symptomatic ADPKD, leading to a definitive diagnosis.
The current study is unique in that it compares renal outcomes in asymptomatic children who were diagnosed based on screening with children diagnosed due to symptoms. The results of the study call into question the assumption that symptomatic children are more likely to have important renal manifestations. Some major limitations are the retrospective design of...