Abstract
Hypertension may present with increased frequency in young patients with kidney disease associated with TSC. Routine ambulatory BP measurement should be part of the annual clinical assessment in patients with TSC. • Nearly half of the patients with TSC have a premature decline in their renal function in their fifth decade of life. • Hypertension and hyperfiltration have been proposed as modifiable factors of progression of renal decline in patients with TSC-related renal disease. • Hypertension is prevalent in youth with tuberous sclerosis complex. • SBP levels have a positive relation with GFR levels within the normal range of GFRDTPA values.
Highlights
Tuberous sclerosis complex (TSC) is a rare multisystemic genetic disorder inherited in an autosomal dominant manner
Hypertension may present with increased frequency in young patients with kidney disease associated with tuberous sclerosis complex (TSC)
Half of the patients with TSC have a premature decline in their renal function in their fifth decade of life
Summary
Tuberous sclerosis complex (TSC) is a rare multisystemic genetic disorder inherited in an autosomal dominant manner. TSC is caused by mutations in one of the two tumor suppressor genes, TSC1 (9p34.13) and TSC2 (16p13.3), which encode two proteins, hamartin and tuberin respectively [3,4,5]. These two proteins form a heterodimeric complex that inhibits the mechanistic target of rapamycin (mTOR) signaling pathway. Renal involvement is very common in tuberous sclerosis complex (TSC) and is characterised by the development of angiomyolipoma and cysts. The aims of the present study were to assess kidney function and clinical features of renal involvement in TSC, including kidney function, and blood pressure (BP) levels in children, adolescents and young adults
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