一例原因不明的溶血性贫血成人病例被晚期诊断为 sitosterolemia。

IF 2.2 4区 医学 Q3 HEMATOLOGY
Rebeca Jurado Tapiador, P. González, I. Hernandez-Rodriguez
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引用次数: 0

摘要

Sitosterolemia 是一种罕见的常染色体隐性遗传病,会导致植物固醇的肠道吸收增加和胆汁排泄减少。它是由编码固醇素-1 和固醇素-2 蛋白的 ABCG5 和 ABCG8 基因突变引起的。主要临床表现为黄疽、过早动脉粥样硬化、关节痛,值得注意的是血液学改变。与许多其他系统性疾病一样,血液学表现可能是唯一值得注意的发现,因此,我们希望强调多学科工作的重要性,并提高人们对这种罕见疾病的认识。在此,我们介绍一例这种疾病的病例,以及从简单的分析改变发展而来的整个诊断过程。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Late diagnosis of sitosterolemia in an adult case with unexplained hemolytic anemia

Sitosterolemia is a rare autosomal recessive disease that lead to an increase in the intestinal absorption and decreased biliary excretion plant sterols. It is caused by mutations in ABCG5 and ABCG8 genes, encoring sterolin-1 and sterolin-2 protein. The main clinical manifestations are xanthomas, premature atherosclerosis, arthralgia and, of note, hematological alterations. As in many other systemic diseases, hematological manifestations may be the only notable finding, for this reason we want to highlight the importance of multidisciplinary work and raise awareness of this rare disease that can lead to serious consequences if not treated prematurely. Here we present a case of this disease as well as its entire diagnostic process developed from a simple analytical alteration.

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来源期刊
CiteScore
4.50
自引率
6.70%
发文量
211
审稿时长
6-12 weeks
期刊介绍: The International Journal of Laboratory Hematology provides a forum for the communication of new developments, research topics and the practice of laboratory haematology. The journal publishes invited reviews, full length original articles, and correspondence. The International Journal of Laboratory Hematology is the official journal of the International Society for Laboratory Hematology, which addresses the following sub-disciplines: cellular analysis, flow cytometry, haemostasis and thrombosis, molecular diagnostics, haematology informatics, haemoglobinopathies, point of care testing, standards and guidelines. The journal was launched in 2006 as the successor to Clinical and Laboratory Hematology, which was first published in 1979. An active and positive editorial policy ensures that work of a high scientific standard is reported, in order to bridge the gap between practical and academic aspects of laboratory haematology.
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