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遗传性血色素沉着症:铁过载疾病的诊断与治疗。

Genetic haemochromatosis: diagnosis and treatment of an iron overload disorder.

机构信息

School of Health and Society Nursing, University of Salford, Salford, England.

School of Nursing and Midwifery, University of Derby, Derby, England.

出版信息

Nurs Stand. 2022 Nov 2;37(11):77-82. doi: 10.7748/ns.2022.e11896. Epub 2022 Sep 20.

Abstract

Genetic haemochromatosis is a potentially serious iron overload disorder, yet there is a lack of awareness of the condition among the public and many healthcare professionals. In the UK, around one in 150 people have the genetic mutations that cause the condition, meaning that they are at increased risk of developing iron overload. If undiagnosed, prolonged iron overload can lead to liver, heart and endocrine failure and may be fatal; however, early diagnosis, treatment and maintenance can enable patients to have a normal lifespan. This article provides an overview of genetic haemochromatosis, including its types, origins, signs and symptoms, diagnosis, screening and treatment.

摘要

遗传性血色素沉着症是一种潜在的严重铁过载疾病,但公众和许多医疗保健专业人员对此病缺乏认识。在英国,大约每 150 人中就有一人携带导致该病的基因突变,这意味着他们患铁过载的风险增加。如果未经诊断,长期铁过载可导致肝、心和内分泌功能衰竭,甚至可能致命;然而,早期诊断、治疗和维持可以使患者拥有正常的寿命。本文概述了遗传性血色素沉着症,包括其类型、起源、体征和症状、诊断、筛查和治疗。

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