Tuberous sclerosis: a clinical case in practice of pediatric nephrologist

Authors

  • V. Dudnyk National Pirogov Memorial Medical University, Ukraine
  • G. Zvenigorodska National Pirogov Memorial Medical University, Ukraine
  • I. Andrikevych National Pirogov Memorial Medical University, Ukraine
  • H. Mantak National Pirogov Memorial Medical University, Ukraine
  • H. Guminska Vinnytsia Regional Children's Clinical Hospital, Ukraine
  • T. Stepankevych Vinnytsia Regional Children's Clinical Hospital, Ukraine

Keywords:

tuberous sclerosis, tumors, children, diagnostic criteria

Abstract

Tuberous sclerosis is a genetic disease with multiple organs involvement and the formation of benign tumors. Diagnostic difficulties are associated with variability of clinical manifestations.

Clinical case. The own clinical observation of a patient with tuberous sclerosis with predominant lesions of the kidneys, liver, central nervous system and skin is presented. Physicians' awareness of primary and secondary diagnostic criteria, the use of additional instrumental methods, and genetic counseling contribute to the early diagnosis of the disease and prevent the development of complications.

The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of all participating institution. The informed consent of the patient was obtained for conducting the studies

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Published

2020-03-28