Enhancing disease awareness for tuberous sclerosis complex in patients with radiologic diagnosis of renal angiomyolipoma: an observational study

BMC Nephrol. 2021 Jan 31;22(1):47. doi: 10.1186/s12882-021-02253-w.

Abstract

Background: Tuberous Sclerosis Complex (TSC) is a genetic disorder, with renal manifestations like angiomyolipoma (AML) occurring in 70-80% of patients. AML usually cause more complications in TCS patients than in non-TSC patients. However, AML patients are not routinely investigated for TSC. Our aim was to retrospectively assess the correlation between radiologically diagnosed AML and TSC.

Methods: All patients were stratified into AML related vs. unrelated to TSC. Correlations were calculated to determine the association between age, AML, and TSC.

Results: Complete data were available for 521 patients with renal AML, in 7 of which the concurrent diagnosis of TSC was found. Younger age significantly positively correlated with the prevalence of TSC in AML patients (p < 0.01). 37 (7%) of the 521 patients were within the age-range of 18-40 years, in which TSC occurred in 6 cases, 4 (66.7%) of which presented with multiple, bilateral renal AML (p < 0.05), and 2 (33.3%) of which with a single, unilateral AML (p < 0.05). In patients with AML but without TSC, unilateral AML was found in 83.9% and bilateral AML in 16.1% (p < 0.05). Simple binary logistic regression analysis revealed bilateral AML (OR 33.0; 95% CI 3.2-344.0; p = 0.003) (but not unilateral AML (OR 0.09; 95% CI 0.01-0.88; p = 0.04)) to be a risk factor for TSC.

Conclusions: The presence of bilateral AML in patients within the age-range of 18-40 years should raise suspicion for TSC as the underlying cause. Therefore, our advice is to refer patients with multiple bilateral renal AML for further investigations regarding TSC.

Keywords: Angiomyolipoma; Chronic kidney disease; Renal angiomyolipoma; Tuberous sclerosis; Tuberous sclerosis complex.

Publication types

  • Observational Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Angiomyolipoma / diagnostic imaging
  • Angiomyolipoma / etiology*
  • Correlation of Data
  • Female
  • Humans
  • Kidney Neoplasms / diagnostic imaging
  • Kidney Neoplasms / etiology*
  • Male
  • Middle Aged
  • Radiography
  • Retrospective Studies
  • Tuberous Sclerosis / complications*
  • Tuberous Sclerosis / diagnostic imaging
  • Young Adult