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Adult polycystic renal disease presenting in infancy: a report emphasizing the bilateral involvement
Insights
Adult polycystic kidney disease (APKD) can present unilaterally, but is inherently bilateral. Autopsy revealed early cyst formation in the clinically normal kidney, confirming bilateral disease.
Area of Science:
- Nephrology
- Medical Genetics
- Pediatric Pathology
Background:
- Adult polycystic kidney disease (APKD) is a genetic disorder characterized by bilateral kidney cysts.
- Early diagnosis and understanding of disease presentation are crucial for patient management.
Observation:
- A pediatric case of APKD presented with a unilateral abdominal mass on excretory urography.
- The patient had a significant 4-generation family history of APKD.
- The patient died at age 12 from a ruptured intracranial aneurysm.
Findings:
- Despite initial clinical presentation suggesting unilateral renal involvement, postmortem examination revealed early cyst formation in the seemingly normal kidney.
- This finding confirms the bilateral nature of APKD, even when not clinically apparent.
Implications:
- This case highlights the importance of recognizing the bilateral nature of APKD, irrespective of initial unilateral presentation.
- It underscores the need for comprehensive evaluation and monitoring in affected families.
- Understanding the full extent of the disease is critical for managing associated complications, such as intracranial aneurysms.
Abstract:
We describe a girl with adult polycystic renal disease that presented as a unilateral abdominal mass on an excretory urogram. The child had a 4-generation family history of this disorder. Clinical course had been unremarkable until she was 12 years old and died of a ruptured intracranial aneurysm. Despite the clinical impression of unilateral renal involvement, postmortem examination showed that the clinically normal kidney had developed early cyst formation in several areas, thus, underscoring the bilateral nature of adult polycystic disease.