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SM ISO690:2012 ANDRUŞCA, Diana, ŢURCAN, Laura, CHIRIAC, Mihai, VESELOVSKAIA, Ana, VIŞNEVSCHI, Anatolie. Diagnosis of family hypercholesterolemia - LDL receptor deficiency. In: Cercetarea în biomedicină și sănătate: calitate, excelență și performanță, Ed. 1, 20-22 octombrie 2021, Chişinău. Chișinău, Republica Moldova: 2021, p. 51. ISBN 978-9975-82-223-7 (PDF).. |
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Cercetarea în biomedicină și sănătate: calitate, excelență și performanță 2021 | ||||||
Conferința "Cercetarea în biomedicină și sănătate: calitate, excelență și performanță" 1, Chişinău, Moldova, 20-22 octombrie 2021 | ||||||
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Pag. 51-51 | ||||||
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Rezumat | ||||||
Background. Family hypercholesterolemia (FH) is an autosomal dominant genetic disease. Despite the scientific progress made in the recent years, FH tends to remain a challenge in terms of obtaining a clear diagnosis, a complete and lasting response to treatment. Objective of the study. We have studied the role of the gene involved and the consequences of its mutations. Material and Methods. The information was analyzed using the PubMed, Medscape and MEDLINE search engines. Results. One of the causative mutations is located in the LDL-cholesterol receptor gene. Affected subjects have high values of total serum cholesterol (> 7.8 mmol / L) and LDL-cholesterol (> 4.94 mmol / L). FH is present from childhood, being asymptomatic, but if left untreated, 50% of men will suffer a heart attack by the age of 50 and women by the age of 60. The gold standard for FH patients would be Real-time PCR genotyping, using TaqMan probes or new-generation sequencing. The diagnosis of the early mutation is paramount because FH is associated with an increased risk for premature coronary heart disease. Conclusion. Although difficult, the molecular diagnosis of FH has a positive impact leading to an increase in the proportion of patients who start or intensify cholesterol-lowering therapy, thus preventing and slowing the progression of atherosclerosis. |
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Cuvinte-cheie family hypercholesterolemia, LDL-cholesterol, LDL-receptor, hipercolesterolemia familială, LDL-colesterol, receptor-LDL |
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