Familial hypercholesterolaemia in a two-year-old child
Тhе article presents a clinical case of a child with familial hypercholesterolaemia - а депейс disorder of lipid metabolism. Disease started at 6 months, but the diagnosis was made only when the girl was 2. ТІге patient had cholesterol depositions in the skin, lipid metabolism disorder - higher levels of total cholesterol - was found. A differential diagnosis of nephrotic syndrome, diseases of the thyroid gland was made. Molecular-genetic examination found a genetic mutation in exon 11 of the АВСG8 gene, leading to amino acid replacement in position 572 of the protein (pLeu 572Рго, NM_ 022437.2), which allowed to make a final clinical diagnosis. Diet therapy, plasmapheresis and medication therapy permitted to obtain lower cholesterol levels and to improve the quality of life of the patient.