遗传性球形红细胞增多症与 SPTB P.Trp1150 基因变异和 Gilbert 综合征并存:病例报告和文献综述。

IF 1.7 4区 生物学 Q3 BIOLOGY
Open Life Sciences Pub Date : 2024-06-27 eCollection Date: 2024-01-01 DOI:10.1515/biol-2022-0904
Changwei Chi, Shenghao Wu, Wenjin Zhou, Yingying Hu, Yanwei Lu, Shanshan Weng
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引用次数: 0

摘要

红细胞膜骨架中的先天性蛋白质异常会导致遗传性溶血性疾病,即遗传性球形红细胞增多症(HS)。遗传性球形红细胞增多症的主要特征是外周血中微小球形红细胞数量增多。遗传性球形红细胞增多症的主要临床特征包括贫血、黄疸、脾肿大、血液中球形红细胞增多、慢性贫血伴溶血和反复急性发作。大多数患者都有家族史;有些是常染色体隐性遗传,而大多数是常染色体显性遗传。如果严重的高胆红素血症与溶血不成比例,则应考虑导致高胆红素血症的其他原因。吉尔伯特综合征(GS)是一种常染色体显性遗传病,由二磷酸尿苷-葡萄糖醛酸转移酶 lAl 活性降低引起,其特征是间歇性高胆红素血症,但无任何其他肝病症状或体征。HS 和 GS 同时存在的可能性非常有限。在此,我们介绍了一例老年男性病例,患者皮肤和巩膜发黄,反复贫血,最终诊断为 HS 和 GS 并存。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Coexistence of hereditary spherocytosis with SPTB P.Trp1150 gene variant and Gilbert syndrome: A case report and literature review.

A congenital protein anomaly in the erythrocyte membrane skeleton causes a hereditary haemolytic illness known as hereditary spherocytosis (HS). The primary characteristic of HS is an increase in the number of tiny spherical red blood cells in the peripheral blood. The chief clinical features of HS include anaemia, jaundice, splenomegaly, spherical erythrocytosis in the blood, chronic anaemia with haemolysis, and recurrent acute attacks. Most patients have a family history; some have autosomal recessive inheritance, whereas most have autosomal dominant inheritance. In cases of severe hyperbilirubinemia disproportionate to haemolysis, other causes of hyperbilirubinemia should be considered. Gilbert syndrome (GS) is an autosomal dominant illness caused by the reduced activity of uridine diphosphate-glucuronosyl transferase lAl and is characterised by intermittent hyperbilirubinemia without any other signs or symptoms of liver disease. The possibility of the coexistence of HS and GS is very limited. Here we present the case of an elderly man with yellow skin and sclera recurring anaemia, and a final diagnosis of coexisting HS and GS.

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来源期刊
CiteScore
2.50
自引率
4.50%
发文量
131
审稿时长
43 weeks
期刊介绍: Open Life Sciences (previously Central European Journal of Biology) is a fast growing peer-reviewed journal, devoted to scholarly research in all areas of life sciences, such as molecular biology, plant science, biotechnology, cell biology, biochemistry, biophysics, microbiology and virology, ecology, differentiation and development, genetics and many others. Open Life Sciences assures top quality of published data through critical peer review and editorial involvement throughout the whole publication process. Thanks to the Open Access model of publishing, it also offers unrestricted access to published articles for all users.
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