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Cystic renal disease and tuberous sclerosis in infants
D B Glazier1, M H Fleisher, K B Cummings
1Department of Surgery, Robert Wood Johnson Medical School, New Brunswick, New Jersey 08903-0019, USA.
Insights
Tuberous sclerosis can mimic autosomal dominant polycystic kidney disease in infants presenting with large, bilateral renal cysts. Early diagnosis of tuberous sclerosis is crucial when there is no family history of polycystic kidney disease.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited kidney disorder.
- Infantile presentations of cystic kidney disease can be challenging to diagnose.
- Tuberous sclerosis complex (TSC) is a genetic disorder affecting multiple organs.
Observation:
- Two infants presented with clinical and imaging findings suggestive of autosomal dominant-like polycystic kidney disease.
- Detailed evaluation revealed that both infants had tuberous sclerosis complex.
- The resulting cystic kidney disease in these cases mimicked ADPKD.
Findings:
- Tuberous sclerosis complex should be considered in the differential diagnosis of infants with bilateral, large renal cysts.
- Absence of a family history of ADPKD strengthens the suspicion for alternative diagnoses like TSC.
- Cystic kidney disease is a known manifestation of tuberous sclerosis complex.
Implications:
- This observation highlights the importance of thorough diagnostic workups in infants with unexplained cystic kidney disease.
- Recognizing TSC as a cause of infantile polycystic kidney disease can lead to earlier management and improved outcomes.
- Genetic counseling and multidisciplinary care are essential for managing TSC and its renal manifestations.
Abstract:
We describe 2 infants who presented with autosomal dominant-like polycystic kidney disease. Evaluation revealed that both children had tuberous sclerosis, with resulting cystic kidney disease. This diagnosis should be suspected in infants who present with bilateral, large renal cysts, and no family history of autosomal dominant polycystic kidney disease.