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Unilateral presentation of adult-type polycystic kidney disease in children
Insights
Adult polycystic kidney disease (ADPKD) can present unilaterally in children, mimicking simple cysts. Early diagnosis in pediatric ADPKD cases is crucial for timely intervention and family screening.
Area of Science:
- Nephrology
- Pediatric Nephrology
- Medical Genetics
Background:
- Adult polycystic kidney disease (ADPKD) is a genetic disorder typically presenting in adulthood with bilateral kidney cysts.
- Pediatric cases of ADPKD are rare, and often present with atypical or unilateral findings.
- Early identification of ADPKD in children is essential for genetic counseling and management.
Observation:
- A 4-year-old girl initially diagnosed with unilateral simple renal cysts based on imaging.
- Renal histology confirmed adult-type polycystic kidney disease (ADPKD).
- Subsequent screening revealed the mother also had ADPKD, indicating a potential familial link.
Findings:
- This case highlights the possibility of a unilateral presentation of ADPKD in children.
- Review of 10 published cases supports the occurrence of unilateral ADPKD in pediatric patients.
- Histological confirmation is vital when clinical presentation is atypical.
Implications:
- Emphasizes the importance of parental screening in children diagnosed with unilateral or bilateral cystic renal disease.
- Increased awareness of unexpected unilateral ADPKD presentations can lead to nonoperative diagnosis.
- Facilitates earlier diagnosis and management of ADPKD in pediatric populations and affected families.
Abstract:
Adult polycystic kidney disease is characterized by autosomal dominant inheritance, diffuse bilateral cystic kidney disease and onset during the young adult years. Relatively few cases of adult-type polycystic kidney disease in children have been reported. We describe a 4-year-old girl who appeared to have multiple, unilateral simple renal cysts by excretory urography and ultrasonography. There was no known familial renal cystic disease. When renal histology was consistent with adult-type polycystic kidney disease, screening nephrosonograms revealed that the mother also had the disease. We review 10 published cases of unilateral presentation of adult-type polycystic kidney disease in children. This report emphasizes the necessity of screening studies in parents of children with diffuse unilateral or bilateral cystic renal disease. Awareness of the unexpected unilateral presentation of adult-type polycystic kidney disease in children may allow a nonoperative diagnosis to be made.