Ultrasound examination of kidney lesions in children with tuberous sclerosis

Objective. To evaluate the ultrasound features of kidney lesions in children with tuberous sclerosis (TS), depending on genetic variant of the disease.

Materials and Methods. This cross-sectional study included children diagnosed with TS. B-mode ultrasound data from the kidneys of 137 children aged 1 month to 18 years were obtained. Of these, 27/137 patients (19.7%) had the pathogenic TSC1 variant, 76/137 (55.5%) had TSC2, 4/137 (2.9%) had TSC2/PKD1, and 30/137 (21.9%) had an unspecified genetic variant (diagnosis was established based on clinical criteria). An analysis of kidney ultrasound features was conducted depending on the genetic variant.

Results. According to ultrasound data, 85.4% (117/137) of patients had kidney lesions - cysts and angiomyolipomas (AML). For patients with pathogenic TSC1 variants, the most common kidney lesion was AML (59.3%), while patients with pathogenic TSC2 variants and TSC2/PKD1 contiguous gene syndrome (TSC2/PKD1-CGS) more often had combined AML and kidney cysts (51.3% and 100%, respectively). Multiple and large AML were most common in patients with pathogenic TSC2 variants, while patients with the TSC2/PKD1-CGS type of disease predominantly had multiple large cysts, which were visible in the first years of life.

Conclusion. Ultrasound is a simple and widely available diagnostic method that allows for timely assessment of kidney in children with TS, including at the diagnosis stage. This may be important for preventing complications such as spontaneous bleeding, aneurysms, and urodynamic disturbances.

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