4型遗传性血色素沉着症SLC40A1突变引起的铁超载。

IF 1.2 4区医学 Q3 PATHOLOGY

Medical Molecular Morphology Pub Date : 2023-09-01 Epub Date: 2023-06-29 DOI:10.1007/s00795-023-00359-8

Jing Hu, Yuan Li, Li Zhang, Guangxin Peng, Fengkui Zhang, Xin Zhao

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引用次数: 1

摘要

遗传性血色素沉着症4型是一种常染色体显性遗传性疾病，其特征是编码铁转运蛋白的SLC40A1基因发生突变。这种情况可以进一步细分为4A型(功能丧失突变)和4B型(功能获得突变)。迄今为止，仅报道了少数4B型病例，并且没有明确提到治疗方法。在这里，我们报告了一种涉及杂合突变c.997的遗传性血色素沉着病4B型基因型T > C (p. Tyr333His)。患者每月进行红细胞分离治疗，连续1年，随后口服去铁铁，联合治疗有效。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Iron overload due to SLC40A1 mutation of type 4 hereditary hemochromatosis.

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Iron overload due to SLC40A1 mutation of type 4 hereditary hemochromatosis.

Hereditary hemochromatosis type 4 is an autosomal-dominant inherited disease characterized by a mutation in the SLC40A1 gene encoding ferroportin. This condition can be further subdivided into types 4A (loss-of-function mutations) and 4B (gain-of-function mutations). To date, only a few cases of type 4B cases have been reported, and the treatment has not been clearly mentioned. Here, we report a genotype of hereditary hemochromatosis type 4B involving the heterozygous mutation c.997 T > C (p. Tyr333His) in SLC40A1. The patient was treated with red blood cell apheresis every month for 1 year, followed by oral deferasirox, and the combined therapy was found to be effective.

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来源期刊

Medical Molecular Morphology 医学-病理学

CiteScore

2.90

自引率

5.60%

发文量

审稿时长

>12 weeks

期刊介绍： Medical Molecular Morphology is an international forum for researchers in both basic and clinical medicine to present and discuss new research on the structural mechanisms and the processes of health and disease at the molecular level. The structures of molecules, organelles, cells, tissues, and organs determine their normal function. Disease is thus best understood in terms of structural changes in these different levels of biological organization, especially in molecules and molecular interactions as well as the cellular localization of chemical components. Medical Molecular Morphology welcomes articles on basic or clinical research in the fields of cell biology, molecular biology, and medical, veterinary, and dental sciences using techniques for structural research such as electron microscopy, confocal laser scanning microscopy, enzyme histochemistry, immunohistochemistry, radioautography, X-ray microanalysis, and in situ hybridization. Manuscripts submitted for publication must contain a statement to the effect that all human studies have been reviewed by the appropriate ethics committee and have therefore been performed in accordance with the ethical standards laid down in an appropriate version of the 1964 Declaration of Helsinki. It should also be stated clearly in the text that all persons gave their informed consent prior to their inclusion in the study. Details that might disclose the identity of the subjects under study should be omitted.