Management of Autosomal Dominant Polycystic Kidney Disease in Children

Diagnostic Approach and Screening

Children with a positive family history of autosomal dominant polycystic kidney disease (ADPKD) should receive non-directional counseling about two equally valid approaches: regular clinical screening without diagnostic testing or immediate diagnostic screening via ultrasonography or genetic testing, as recommended by the American Academy of Pediatrics 2
For children under 15 years with a positive family history, one or more kidney cysts on ultrasound is highly suggestive of ADPKD, according to the National Institute of Diabetes and Digestive and Kidney Diseases 3, 4
Ultrasonography is the preferred diagnostic and monitoring tool for children with ADPKD, as stated by the American Academy of Pediatrics 4

Regular blood pressure monitoring is essential, as hypertension affects 6-22% of children with ADPKD and correlates with kidney volume and disease progression, as reported by the American Heart Association 1, 6
eGFR decline is a suitable progression marker only in the small subgroup with very advanced ADPKD, according to the National Kidney Foundation 5, 7

Children with ADPKD should achieve the recommended salt intake for healthy children, which may require dietician assistance, as recommended by the American Academy of Pediatrics 1, 6
Maintaining normal weight is essential, as obesity independently predicts faster renal function loss in adults with early ADPKD, according to the National Institute of Diabetes and Digestive and Kidney Diseases 1, 8
Avoid dehydration and encourage drinking to satisfy thirst, as recommended by the American Academy of Pediatrics 1, 8

Apply standard pediatric UTI diagnostic and treatment protocols, as recommended by the American Academy of Pediatrics 10
Ultrasonography is the first-line imaging modality to rule out stones or urinary tract obstruction in cases of macroscopic hematuria, according to the National Institute of Diabetes and Digestive and Kidney Diseases 10

Do not screen for mitral valve prolapse in children without a heart murmur, as recommended by the American Heart Association 10
Do not screen for intracranial aneurysms in children, according to the National Institute of Neurological Disorders and Stroke 10
Do not screen regularly for liver cysts, as recommended by the American Association for the Study of Liver Diseases 10