Homozygous Form of Familial Defect of Apo B-100 (FDB) in a 7-Year Girl
Hyánek J.1, Freiberger T.2, Grombiříková H.2, Kuhrová V.3, Martiníková V.1, Dubská L.1, Dvořáková J.1, Loučka M.4, Přindišová H.5, Janatová D.6, Jenčová H.1
Metabolická ambulance, Oddělení klinické biochemie, Nemocnice Na Homolce, Praha1 přednosta prim. MUDr. M. Průcha, PhD. Centrum kardiovaskulární a transplantační chirurgie, Brno2 ředitel prof. MUDr. J. Černý, CSc. FN Brno – Centrum molekulární biologie a genové terapie3 vedoucí ing. D. Dvořáková, CSc. Ústav matematiky a statistiky VŠCHT, Praha4 vedoucí ing. M. Loučka, CSc. Radiodiagnostické oddělení, Nemocnice Na Homolce, Praha5 |
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Summary:
The authors describe a child patient with a homozygous form of familial hypercholesterolemia
due to the deficit of gene for Apo B-100 (Familial Defective Apolipoprotein B-100) found for the
first time in the Czech cardiovascular population at risk. Both parents are typical heterozygotes
with high cardiovascular risk in familial anamnesis, treated with statins for the high level of cholesterol.
The female proband lacks any clinical symptoms with the exception of high level of total
cholesterol of 11.7 mmol/l (LDL-C 10.6 mmol/l), which was efficiently decreased only after the statin
therapy, which was started even in the pre-pubertal period for the high cardiovascular risk.
Key words:
familial defect of apolipoprotein B-100 (FDB), child dyslipidemia, statins in children
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