Results of Molecular Genetic Examinations in Patients of the Child Lipid Advisory Center at the Faculty Hospital at Olomouc within the Framework of the MedPed Project

Czech version

Authors: J. Hyjánek ¹; D. Pastucha ²; L. Tichý ³; L. Fajkusová ³; T. Freiberger ⁴
Authors‘ workplace: Ústav lékařské genetiky a fetální medicíny LF UP a FN Olomouc přednosta prof. MUDr. J. Šantavý, CSc. ¹; Klinika tělovýchovného lékařství a kardiovaskulární rehabilitace LF UP a FN Olomouc přednostka doc. MUDr. E. Sovová, PhD., MBA ²; Centrum molekulární biologie a genové terapie, FN Brno vedoucí doc. RNDr. Š. Pospíšilová, PhD. ³; Genetická laboratoř, Centrum kardiovaskulární a transplantační chirurgie Brno vedoucí doc. MUDr. P. Němec, CSc., FETCS ⁴
Published in: Čes-slov Pediat 2010; 65 (7-8): 441-444.
Category: Original Papers

Overview

During the past 12 years 410 patients were seen in the Paediatric lipid clinic and 96 patients are being followed up. Causal mutation of the gene for LDL receptor or the gene for Apo B-100 was detected in 62% of 74 tested patients in the cohort of familialhypercholesterolemia (FH)/familial defect of apolipoprotein B-100 (FDB). The LDL receptor mutations are usually family specific. There were 2,5 patients with FH per family and 2,6 patients with FDB per family. This is higher than the country average.

Key words:
dyslipidemias, atherosclerosis, familial hypercholesterolemia, DNA analysis, MedPed, childhood

Sources

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Labels

Neonatology Paediatrics General practitioner for children and adolescents

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Article was published in

Czech-Slovak Pediatrics

2010 Issue 7-8