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

BMC Nephrology

Cyrill A. Rentsch¹  Kathrin Bausch¹  Hans-H. Seifert¹  Jan Ebbing¹  Christian Wetterauer¹  Julian Diethelm²  Daniel T. Boll³  Patricia Dill⁴ 

[1] Department of Urology, University Hospital Basel, Spitalstrasse 21, CH-4031, Basel, Switzerland;University of Basel, Petersplatz 1, CH-4051, Basel, Switzerland;University of Basel, Petersplatz 1, CH-4051, Basel, Switzerland;University of Basel, Petersplatz 1, CH-4051, Basel, Switzerland;Department of Radiology, University Hospital Basel, Petersgraben 4, CH-4031, Basel, Switzerland;University of Basel, Petersplatz 1, CH-4051, Basel, Switzerland;Division of Pediatric Neurology and Developmental Medicine, University Childrens’ Hospital Basel, Spitalstrasse 33, CH-4056, Basel, Switzerland;

关键词: Angiomyolipoma;    Chronic kidney disease;    Renal angiomyolipoma;    Tuberous sclerosis;    Tuberous sclerosis complex;   

DOI  :  10.1186/s12882-021-02253-w

来源: Springer

【 摘 要 】

BackgroundTuberous 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.MethodsAll patients were stratified into AML related vs. unrelated to TSC. Correlations were calculated to determine the association between age, AML, and TSC.ResultsComplete 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.ConclusionsThe 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.

【 授权许可】

CC BY