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家族性高胆固醇血症的基因检测的重要性:儿科试点研究。

The Importance of Genetic Testing for Familial Hypercholesterolemia: A Pediatric Pilot Study.

机构信息

Faculty of Medicine, University of Medicine and Pharmacy "Carol Davila", 020021 Bucharest, Romania.

Pediatrics Department, National Institute for Mother and Child Health "Alessandrescu-Rusescu", 020395 Bucharest, Romania.

出版信息

Medicina (Kaunas). 2024 Sep 29;60(10):1602. doi: 10.3390/medicina60101602.


DOI:10.3390/medicina60101602
PMID:39459389
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11509574/
Abstract

Familial hypercholesterolemia (FH) is a genetic disease that is massively underdiagnosed worldwide. Affected patients are at high risk of cardiovascular events at young ages. Early intervention in childhood could help prevent heart attacks and cerebral strokes in these patients. We conducted an interventional study including 10 patients that previously underwent genetic testing for familial hypercholesterolemia. These patients received lifestyle and diet recommendations that they followed for a year before being reevaluated. Patients with negative genetic testing were able to achieve lower levels in their lipid panel values compared to the patients with positive genetic testing, with lifestyle changes alone. LDL-cholesterol levels decreased by 18.5% in patients without FH while patients genetically confirmed with FH failed to achieve lower LDL-cholesterol levels without medication. Genetic testing for FH is not always part of screening algorithms for FH. Some studies even advise against it. Our study proved the importance of genetic testing for FH when suspecting this disorder and choosing the treatment course for patients.

摘要

家族性高胆固醇血症(FH)是一种在全球范围内严重漏诊的遗传性疾病。受影响的患者在年轻时患心血管事件的风险很高。在儿童时期进行早期干预可以帮助预防这些患者的心脏病发作和中风。我们进行了一项干预性研究,纳入了 10 名先前接受家族性高胆固醇血症基因检测的患者。这些患者接受了生活方式和饮食建议,并在重新评估前遵循了一年。与基因检测阳性的患者相比,阴性的患者仅通过生活方式改变就能达到更低的血脂谱值。无 FH 的患者 LDL-胆固醇水平下降了 18.5%,而基因确诊 FH 的患者在没有药物治疗的情况下未能降低 LDL-胆固醇水平。FH 的基因检测并非 FH 筛查算法的一部分。一些研究甚至建议不要进行检测。我们的研究证明了在怀疑这种疾病并为患者选择治疗方案时进行 FH 基因检测的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1248/11509574/f910ccfd9501/medicina-60-01602-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1248/11509574/02a6cdf0a7f6/medicina-60-01602-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1248/11509574/1891d12482ca/medicina-60-01602-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1248/11509574/2062a122f6c9/medicina-60-01602-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1248/11509574/f910ccfd9501/medicina-60-01602-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1248/11509574/02a6cdf0a7f6/medicina-60-01602-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1248/11509574/1891d12482ca/medicina-60-01602-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1248/11509574/2062a122f6c9/medicina-60-01602-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1248/11509574/f910ccfd9501/medicina-60-01602-g004.jpg

相似文献

[1]
The Importance of Genetic Testing for Familial Hypercholesterolemia: A Pediatric Pilot Study.

Medicina (Kaunas). 2024-9-29

[2]
Enhanced identification of familial hypercholesterolemia using central laboratory algorithms.

Atherosclerosis. 2024-6

[3]
Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome.

J Am Coll Cardiol. 2017-10-3

[4]
The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Dan Med Bull. 2002-11

[5]
Genetic testing for familial hypercholesterolemia: Impact on diagnosis, treatment and cardiovascular risk.

Eur J Prev Cardiol. 2019-2-12

[6]
Universal screening for familial hypercholesterolemia in children: The Slovenian model and literature review.

Atherosclerosis. 2018-10

[7]
Improved Efficiency of the Clinical Diagnostic Criteria for Familial Hypercholesterolemia in Children: A Comparison of the Japan Atherosclerosis Society Guidelines of 2017 and 2022.

J Atheroscler Thromb. 2024-7-1

[8]
Health related quality of life in individuals at high risk for familial hypercholesterolemia undergoing genetic cascade screening in Brazil.

Atherosclerosis. 2018-10

[9]
Neonatal diagnosis of familial hypercholesterolemia in newborns born to a parent with a molecularly defined heterozygous familial hypercholesterolemia.

Arterioscler Thromb Vasc Biol. 1997-11

[10]
Efficacy of therapeutic lifestyle changes on lipid profiles assessed by NMR in children with familial and non-familial hypercholesterolemia.

Clin Investig Arterioscler. 2020

本文引用的文献

[1]
Consensus document on diagnosis and management of familial hypercholesterolemia from the Italian Society for the Study of Atherosclerosis (SISA).

Nutr Metab Cardiovasc Dis. 2024-8

[2]
Current treatments for the management of homozygous familial hypercholesterolaemia: a systematic review and commentary.

Eur J Prev Cardiol. 2024-11-11

[3]
Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia.

Genes (Basel). 2024-2-26

[4]
Physical signs and atherosclerotic cardiovascular disease in familial hypercholesterolemia: the HELLAS-FH Registry.

J Cardiovasc Med (Hagerstown). 2024-5-1

[5]
Universal lipid screening in adolescents to identify familial hypercholesterolemia in a large healthcare system.

J Clin Lipidol. 2024

[6]
Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype.

J Lipid Res. 2024-2

[7]
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.

Circ Genom Precis Med. 2023-10

[8]
Algorithms for Treating Dyslipidemia in Youth.

Curr Atheroscler Rep. 2023-8

[9]
Genetic Testing for Familial Hypercholesterolemia in a Pediatric Group: A Romanian Showcase.

Diagnostics (Basel). 2023-6-7

[10]
Guidelines for the Diagnosis and Treatment of Pediatric Familial Hypercholesterolemia 2022.

J Atheroscler Thromb. 2023-5-1

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