PARTICIPATION OF A PRIMARY PEDIATRICIAN IN THE EARLY DIAGNOSTICS AND TREATMENT OF TUBEROUS SCLEROSIS IN CHILDREN

Author:

Volgina S. A.1ORCID,Dorofeeva M. Yu.2ORCID

Affiliation:

1. Kazan State Medical University.

2. Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University.

Abstract

Tuberous sclerosis is a multisystem genetic disorder caused by unregulated activation of a mammalian rapamycin target (mTOR), leading to the growth of hamartomas in various organs. Skin lesions associated with tuberous sclerosis often develop at early age, which is an important diagnostic criterion. It is the pediatricians who can contribute to an early diagnostic process, to develop treatment strategy and create follow-up care for patients. Possible treatment options for skin lesions due tuberous sclerosis include pharmacological (e.g. local or systemic mTOR inhibitors) and non-pharmacological (surgical removal, laser therapy) methods.

Publisher

The National Academy of Pediatric Science and Innovation

Subject

Pediatrics, Perinatology and Child Health

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