FAMILY CASE OF HEREDITARY PATHOLOGY
Keywords:
болезни накопления
болезнь Ниманна-Пика тип С
гепатомегалия
желтуха
дети
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.
