Nutritional status as a predictive factor for paediatric tuberous sclerosis complex-associated kidney angiomyolipomas: a retrospective analysis

Abstract

The purpose of this study is to determine the predictive factors of tuberous sclerosis complex (TSC)-associated kidney disease and its progression in children. Retrospective review of children with TSC in a tertiary children’s hospital was performed. Relevant data were extracted, and Cox proportional hazards regression was used to establish predictors of kidney lesions. Logistic regression was conducted to identify factors predicting chronic kidney disease (CKD) and high-risk angiomyolipomas (above 3 cm). Kidney imaging data were available in 145 children with TSC; of these, 79% (114/145) had abnormal findings. The only significant predictive factor for cyst development was being female (HR = 0.503, 95% CI 0.264–0.956). Being female (HR = 0.505, 95% CI 0.272–0.937) and underweight (HR = 0.092, 95% CI 0.011–0.800) both lowers the risk of having angiomyolipomas, but TSC2 mutations (HR = 2.568, 95% CI 1.101–5.989) and being obese (HR = 2.555, 95%CI 1.243–5.255) increases risks. Ten (12%) of 81 children with kidney function tested demonstrate CKD stages II–V, and only angiomyolipomas above 3 cm predict CKD. Additionally, 13/145 (9%) children had high-risk angiomyolipomas, whereby current age (adjusted odds ratio (aOR) 1.015, 95% CI 1.004–1.026) and being overweight/obese (aOR 7.129, 95% CI 1.940–26.202) were significantly associated with angiomyolipomas above 3 cm.Conclusions: While gender and genotype are known predictors, this study includes the novel finding of nutritional status as a predictor of TSC-associated kidney disease. This study sheds light on a possible complex interplay of hormonal influences, obesity, and kidney angiomyolipomas growth, and further investigations focusing on the impact of nutritional status on TSC-associated kidney disease are warranted. What is Known:• Gender and genotype are well-studied predictive factors in TSC kidney disease. What is New:• Nutritional status may influence the development and the progression of kidney lesions in children with TSC and should not be overlooked. • Management guidelines of TSC-associated kidney disease can address nutritional aspects.

TSC1 splicing mutation in renal angiomyolipoma with epithelial cysts without fat: A very rare case report and literature review

“…Tuberous sclerosis complex (TSC) is an autosomal dominant hereditary disease caused by inactivating mutations in the TSC1 or TSC2 gene, affecting the brain, kidneys, heart, skin, lung, and so on. There are 60%–80 % of patients with TSC had renal lesions, such as AML, renal cysts and renal cell carcinoma (RCC) [ 11 , 12 ]. AML were detected in 49 % patients with TSC [ 13 ].…”