Renal manifestations of tuberous sclerosis among children: an Indian experience and review of the literature

Abstract

ObjectiveThe objective of this study was to describe the renal manifestations in children 0–18 years of age diagnosed with tuberous sclerosis complex (TSC) at a tertiary hospital in South India.MethodsData of children with TSC, who presented to Christian Medical College Vellore Hospital from January 2008 to January 2013, were analysed by a retrospective chart review. The cases were identified from outpatient records and underwent ultrasonography, urine analysis and examination of serum creatinine to recognize renal involvement.ResultsTwenty-five children with TSC were identified. Two children did not have imaging studies available and were excluded from the analysis. The age of the included children ranged from 5 days to 15 years with a median age of 8 years. Seventy-four per cent (17/23) were males. Ten of the 23 children had evidence of renal involvement (43.5%). Of the 10 children with renal involvement, 6 had angiomyolipoma (60%), 5 had renal cysts (50%) and 1 had suspected renal cell carcinoma. In two children both angiomyolipoma (AML) and cysts were noted. One child was found to have proteinuria. The rest of the children had no evidence of proteinuria and had normal creatinine clearance.ConclusionWe conclude that all children with TSC should be screened for renal involvement and regular follow-up should be arranged.

Manifestations of Tuberous Sclerosis Complex: The Experience of a Provincial Clinic

“…Similarly, the 43% rate of angiomyolipomas in this study is comparable to the 40% to 80% previously reported. 34,40 The rate of renal cysts in our study, 19%, is at the low end of the 17% to 47% rate reported in these studies. Although typically asymptomatic in childhood, these lesions tend to increase in size over time and can lead to hypertension, hemorrhage, and end-stage renal disease.…”

Rapamycin therapy for neonatal tuberous sclerosis complex with cardiac rhabdomyomas: A case report and review

“…Renal lesions serve an important role in the course of TSC by impairing renal function ( 29 ). Renal cysts, angiomyolipomas and renal cell carcinomas are the most common renal lesions in patients with TSC ( 30 , 31 ). Isaacs ( 32 ) reported that 13.2% of neonates and fetuses with TSC exhibit renal cysts.…”

A case of renal cell carcinoma and angiomyolipoma in an adolescent girl

“…[2][3][4] One of them had a unifying diagnosis of tuberous sclerosis. [3] These articles suggest that one should look for renal involvement in patients with tuberous sclerosis complex (TSC).…”

“…[3] These articles suggest that one should look for renal involvement in patients with tuberous sclerosis complex (TSC). [2][3][4] Could this patient have TSC, or could the angiomyolipoma be unusual renal metastases presenting radiologically as angiomyolipoma? [5] Could her freckles be mistaken for angiofibromas, which would support the diagnosis of tuberous sclerosis?…”