The Journal of Urology · 1998 · 336 citations · 33 references
MedicineNephrologyPediatricsPediatric NephrologyRenal PathologyRenal PathophysiologyPediatric Renal PathologyRenal DiseaseRenal Mass EvaluationTuberous Sclerosis ComplexRenal Sclerosis
PURPOSE: Renal lesions, including angiomyolipoma, renal cysts (simple and polycystic kidney disease) and renal cell carcinoma, develop in patients with tuberous sclerosis complex. While there is limited information that these lesions may grow in adults with tuberous sclerosis complex, the incidence, characterization and growth rate in children have not been reported. Also, the age at which these lesions first appear, thus providing insight into their natural history, is unknown. We present our data from a longitudinal renal surveillance study of children with tuberous sclerosis complex. MATERIALS AND METHODS: Since 1985 children with tuberous sclerosis complex at our hospital have undergone periodic renal imaging by ultrasonography or computerized tomography to monitor renal lesions. A total of 35 girls and 25 boys 1 to 18 years old have undergone at least 2 or more annual renal ultrasounds. RESULTS: On initial evaluation 33 of 60 children (55%) (mean age 6.9 years) had an identifiable renal lesion, which increased to 48 of 60 (80%) at followup (mean age 10.5 years). Angiomyolipoma was the most frequent lesion (75%) followed by simple renal cysts (17%). Angiomyolipomas increased in size and/or number in 10 of 18 boys (56%) and 18 of 27 girls (66%). The largest growth rate in 1 year was from 0 to 4 cm. and from 5 to 9 cm. in diameter. The youngest patient demonstrated lesions at age 2 years. The average age at which a normal ultrasound became abnormal was 7.2 years. While a total of 27 patients had a normal ultrasound on entering the study, lesions had developed in 15 at followup (11 with angiomyolipomas, 4 with cysts). Five patients had cysts that had disappeared at followup. A 7-year-old boy had a 9 cm. renal cell carcinoma removed. One patient has renal lesions characteristic of autosomal dominant polycystic kidney disease. CONCLUSIONS: Renal involvement in patients with tuberous sclerosis complex begins in infancy, and angiomyolipoma is the most common lesion (75%). Angiomyolipomas are more likely to grow than remain stable, although the rate of growth varies. Simple renal cysts may appear or disappear with time but angiomyolipomas do not disappear. An initially normal renal ultrasound does not rule out future development of lesions. Periodic surveillance is indicated in children with tuberous sclerosis complex.
33
Identification of the Tuberous Sclerosis Gene <i>TSC1</i> on Chromosome 9q34
Marjon van Slegtenhorst, Ronald De Hoogt, Caroline Hermans et al. · Science · 1997 · 1.7K citations
EVIDENCE THAT THE GENE FOR TUBEROUS SCLEROSIS IS ON CHROMOSOME 9
Alan Fryer, J. M. Connor, S. Povey et al. · The Lancet · 1987 · 514 citations
James R. Taylor, Jay H. Ryu, Thomas V. Colby et al. · New England Journal of Medicine · 1990 · 464 citations · Full text
Medicine, Cell Biology, Pathology +10
The Natural History of Renal Angiomyolipoma
Mitchell S. Steiner, Stanford M. Goldman, Elliot K. Fishman et al. · The Journal of Urology · 1993 · 460 citations