Vestnik Urologii (Apr 2023)

Tuberous sclerosis with kidneys angiomyolipomas: a family case

  • A. A. Keln,
  • E. V. Semenova,
  • O. L. Keln,
  • M. S. Shvedskyi

DOI
https://doi.org/10.21886/2308-6424-2023-11-1-165-170
Journal volume & issue
Vol. 11, no. 1
pp. 165 – 170

Abstract

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Tuberous sclerosis is one of the forms of monogenic hereditary pathology related to neurocutaneous diseases (phacomatoses). Diagnostic difficulties are associated with pronounced clinical polymorphism and age-dependent onset of symptoms. The article presents current data on the prevalence and clinical manifestations of tuberous sclerosis. A clinical case of tuberous sclerosis is given in several generations of the same family.

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