FAMILY CASE OF HEREDITARY PATHOLOGY

  • Ирина Игоревна Иванова Tver State Medical University 170100, Tver
  • Ольга Борисовна Федерякина Tver State Medical University 170100, Tver
  • Татьяна Александровна Расторгуева Tver State Medical University 170100, Tver
  • Анна Андреевна Ильина Tver State Medical University 170100, Tver
Keywords: accumulation diseases, Niemann-Pick disease type C, hepatomegaly, jaundice, children

Abstract

The article provides up to date data on the rare hereditary Niemann Pick disease type C, which is related to lysosomal accumulation diseases. It describes the main clinical manifestations of different age related forms of the disease. The information is illustrated by a clinical example of the occurrence of Niemann-Pick disease in a family where some children are carriers of the pathological gene, some are sick.

Author Biographies

Ирина Игоревна Иванова, Tver State Medical University 170100, Tver
Sovetskaya st., 4.; candidate of medical sciences, associate professor of the Department of Pediatrics, Faculty of Pediatrics
Ольга Борисовна Федерякина, Tver State Medical University 170100, Tver
Sovetskaya st., 4.
Татьяна Александровна Расторгуева, Tver State Medical University 170100, Tver
Sovetskaya st., 4.
Анна Андреевна Ильина, Tver State Medical University 170100, Tver
Sovetskaya st., 4.
Published
2020-06-02
How to Cite
Иванова, И. И., Федерякина, О. Б., Расторгуева, Т. А., & Ильина, А. А. (2020). FAMILY CASE OF HEREDITARY PATHOLOGY. Medicine: Theory and Practice, 5(1), 160-163. Retrieved from https://ojs3.gpmu.org/index.php/med-theory-and-practice/article/view/2350
Issue
Vol 5 No 1 (2020): Сборник трудов пятой Всероссийской научно-практической конференции. ПИЩЕВАЯ НЕПЕРЕНОСИМОСТЬ У ДЕТЕЙ . СОВРЕМЕННЫЕ АСПЕКТЫ ДИАГНОСТИКИ , ЛЕЧЕНИЯ , ПРОФИЛАКТИКИ И ДИЕТОТЕРАПИИ
Section
Статьи