1. Case conference concerning 9-year-old boy having 20 mmol/lcholesterol: from diagnosis to effective treatment
- Author
-
AV Susekov, ZG Luginova, AN Meshkov, EY Solovyova, TV Balakhonova, MA Saidova, TI Kotkina, MY Scherbakova, VV Davydkin, MA Dubovenko, AY Postnov, ZB Khasanova, GA Konovalov, and VV Kukharchuk
- Subjects
семейная гиперхолестеринемия ,моногенная дислипидемия ,наследование ,холестерин ,липопротеиды низкой плотности ,familial hypercholesterolemia ,monogenic dyslipidemia ,inheritance ,cholesterol ,low density lipoprotein ,Medicine - Abstract
Familial hypercholesterolemia (FHC) is the most common and most severe form of monogenic dyslipidemia with early and rapidly progressing atherosclerosis and its complications [1--4, 12, 14]. Without treatment, the prognosis for patients with FHC is as heavy as for AIDS patients. For the first time the molecular defect - absence or dysfunction of the LDL receptor (LDL-R), the main route for cholesterol catabolism in humans [2, 3, 12, 13] - was described with regard to this genetic disease. The article analyzes a clinical case of the disease in a 9-year-old boy.
- Published
- 2014
- Full Text
- View/download PDF