Pediatric Nephrology

, Volume 26, Issue 5, pp 675–692

Diagnosis and management of childhood polycystic kidney disease

Educational Review

Abstract

A number of syndromic disorders have renal cysts as a component of their phenotypes. These disorders can generally be distinguished from autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) by imaging studies of their characteristic, predominantly non-renal associated abnormalities. Therefore, a major distinction in the differential diagnosis of enlarge echogenic kidneys is delineating ARPKD from ADPKD. ADPKD and ARPKD can be diagnosed by imaging the kidney with ultrasound, computed tomography, or magnetic resonance imaging (MRI), although ultrasound is still the method of choice for diagnosis in utero and in young children due to ease of use, cost, and safety. Differences in ultrasound characteristics, the presence or absence of associated extrarenal abnormalities, and the screening of the parents >40 years of age usually allow the clinician to make an accurate diagnosis. Early diagnosis of ADPKD and ARPKD affords the opportunity for maximal anticipatory care (i.e. blood pressure control) and in the not-too-distant future, the opportunity to benefit from new therapies currently being developed. If results are equivocal, genetic testing is available for both ARPKD and ADPKD. Specialized centers are now offering preimplantation genetic diagnosis and in vitro fertilization for parents who have previously had a child with ARPKD. For ADPKD patients, a number of therapeutic interventions are currently in clinical trial and may soon be available.

Keywords

Autosomal recessive polycystic kidney disease Autosomal dominant polycystic kidney disease Childhood PKD Ultrasound Differential diagnosis Management Therapy 

Copyright information

© IPNA 2010

Authors and Affiliations

  1. 1.Department of Pediatrics, Research Center of Excellence in Pediatric Nephrology, Children’s Research InstituteChildren’s Hospital Health System of Wisconsin and Medical College of WisconsinMilwaukeeUSA
  2. 2.Department of Physiology, Research Center of Excellence in Pediatric Nephrology, Children’s Research Institute Children’s Hospital Health System of Wisconsin and Medical College of WisconsinMilwaukeeUSA
  3. 3.Children’s Research InstituteChildren’s Hospital Health System of WisconsinWauwatosaUSA

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