Early manifestations of renal disease in patients with tuberous sclerosis complex

Laura Malaga-Dieguez,1 Robert Spencer,1 Laura J Pehrson,1 Suzanne Vento,1 Kimberly Menzer,2 Orrin Devinsky,2 Howard Trachtman1 1Division of Pediatric Nephrology, 2Department of Neurology, Comprehensive Epilepsy Center, New York University School of Medicine, New York, NY, USA Objectives: Renal manifestations are the second most significant cause of morbidity and mortality in patients with tuberous sclerosis complex (TSC), and include renal cysts, angiomyolipomas, fat-poor lesions, and malignant tumors. These lesions begin in childhood and often lead to chronic kidney disease (CKD). Little is known on the incidence of early modifiable risk factors of CKD, such as proteinuria and hypertension, or subtle decreases in glomerular filtration rate that correspond to the early stages of CKD in children with TSC. The impact of genotype on these early manifestations of CKD has not been investigated. Design: Retrospective chart review of 84 children and young adults with TSC. Measurements: This study assessed the prevalence of hypertension, renal impairment, and proteinuria, as well as the genotype–phenotype correlations. Results: Children and young adults with TSC2 mutations had a significantly higher rate of renal lesions, hypertension (36% vs 14%), and decreased renal function than those with TSC1 mutations. Conclusion: On the basis of estimated glomerular filtration rate and blood pressure, our findings are consistent with the hypothesis that TSC2 mutations are associated with more severe early renal involvement in children. There is a compelling need for close collaboration of nephrologists and neurologists to provide care to pediatric patients with TSC to improve screening and management of early manifestations of renal disease. Keywords: tuberous sclerosis complex, chronic kidney disease, hypertension, proteinuria, estimated glomerular filtration rate