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[Polycystic kidney disease in children]
1Service de néphrologie pédiatrique, INSERM U 192, hôpital Necker-Enfants-Malades, Paris, France.
Pediatrie
|January 1, 1989
Summary
Differentiating pediatric polycystic kidney diseases relies on identifying biliary dysgenesis and inheritance patterns, not age or imaging alone. Autosomal recessive polycystic kidney disease and autosomal dominant polycystic kidney disease require distinct diagnostic approaches.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
- Diagnostic Imaging
Context:
- Polycystic kidney diseases (PKDs) in children present diagnostic challenges.
- Two primary forms exist: autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD).
- Advances in renal imaging increasingly detect ADPKD in pediatric populations.
Purpose:
- To clarify the diagnostic criteria for differentiating ARPKD and ADPKD in children.
- To highlight the limitations of age, clinical presentation, and imaging in differential diagnosis.
- To emphasize the definitive role of biliary dysgenesis and inheritance patterns.
Summary:
- Pediatric polycystic renal diseases encompass ARPKD and ADPKD, which are pathologically and genetically distinct.
- ARPKD, often mislabeled the "infantile form," involves constant hepato-renal manifestations.
- ADPKD, the "adult form," is increasingly diagnosed in children due to improved imaging.
- Differential diagnosis hinges on identifying biliary dysgenesis (specific to ARPKD) via pathology or ultrasonography.
- Family history and ultrasonographic confirmation of inheritance patterns are crucial for accurate diagnosis.
Impact:
- Provides clear diagnostic guidelines for clinicians managing pediatric PKDs.
- Enhances understanding of the distinct pathologies of ARPKD and ADPKD.
- Improves diagnostic accuracy, leading to timely and appropriate patient management.