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
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
1. Urbanová Z. Prevence a léčba hyperlipoproteinémií u dětí a dorostu. Pediatrie po Promoci 2004: 32–37.
2. Urbanová Z, Šamánek M. Co nového je v diagnostice a léčbě dyslipidémií v dětství a dospívání. Vnitř. Lék. 2007; 53(12): 15.
3. Freiberger T, Soška V, Kuhrová V, Stejskal J. Program vyhledávání a léčby nemocných s familiární hypercholesterolémií (MedPed FH) v České republice. Čas. Lék. čes. 2000; 139(7): 195–196.
4. Freiberger T, Češka R. Je familiární hypercholesterolémie v České republice pod kontrolou? Vnitř. Lék. 2007;; 53(6): 703–708.
5. Grundy SM, Cleeman JI, Merz CN, Brewer HB Jr, Clark LT, et al. Implications of recent clinical trials for the national cholesterol education. Circulation 2004;;110: 227–239.
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2010 Issue 7-8
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