《无法形容的疾病:两个兄弟姐妹的故事

Jones Jones, Dipak Ram, Ally Shaw
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引用次数: 0

摘要

ARSA基因突变导致芳基硫酸酯酶A缺乏是一种罕见的遗传性溶酶体贮积病的病因,导致中枢神经系统(CNS)和周围神经系统(PNS)中硫脂质的积累。这反过来又导致进行性脱髓鞘、神经炎症和神经退行性变,以及在内脏器官的积累。受影响的幼儿逐渐丧失行走、站立、说话和吞咽的能力;他们失去了独立性,表现出身体和认知能力的稳步衰退,最终导致他们在更年轻的时候过早死亡。这种情况不仅摧毁了年轻患者,而且在心理和经济上也深深地影响了他们的家庭和照顾者。在这次采访中,Simon Jones,曼彻斯特圣玛丽医院儿科遗传代谢性疾病顾问,曼彻斯特名誉学术健康科学中心(MAHSC),英国曼彻斯特大学儿科教授和高级讲师;Dipak Ram,皇家儿科和儿童健康学院(RCPCH)和英国儿科神经病学协会(BPNA)国家儿科神经病学培训顾问,英国皇家曼彻斯特儿童医院儿科神经病学顾问;和Ally Shaw,这篇文章中提到的病人的主要照顾者,探讨了这种疾病如何影响主要是年轻病人的正常发育;想想它微妙的演变;看看奥德赛家庭正在经历的压力诊断,往往导致错误的诊断,而缺乏全国性的新生儿筛查又加剧了这种情况。琼斯和拉姆直接谈到了这些患者的诊断和管理。这篇文章还包括一位母亲的经历,她有两个患病的孩子,其中一个孩子的诊断要归功于他们患病的姐姐,她给了年幼的孩子及时接受治疗的机会。在这种疾病中,时间是至关重要的;不幸的是,患者往往诊断得太晚,注定要接受姑息治疗和过早死亡。希望这次采访和证词将有助于提高对这种疾病的认识,并为未来的患者及其家属提供机会。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The Unspeakable Disease: A Tale of Two Siblings
The deficiency of arylsulfatase A due to the mutations in the ARSA gene is the cause of a rare inherited lysosomal storage disease, resulting in the accumulation of sulfatides in the central nervous system (CNS) and peripheral nervous system (PNS). This, in turn, leads to progressive demyelination, neuro-inflammation, and neurodegeneration, and the accumulation in visceral organs. Affected young children gradually lose the ability to walk, stand, talk, and swallow; they lose their independence and show a steady physical and cognitive regression resulting, ultimately, in their premature death at a younger age. This condition not only devastates young patients, but it also deeply affects their families and carers, both psychologically and economically. In this interview, Simon Jones, Consultant in Paediatric Inherited Metabolic Disease at St Mary’s Hospital, Manchester, Honorary Manchester Academic Health Science Centre (MAHSC), and Professor in Paediatrics and Senior Lecturer at the University of Manchester, UK; Dipak Ram, Royal College of Paediatrics and Child Health (RCPCH) and British Paediatric Neurology Association (BPNA) National Training Advisor for Paediatric Neurology, and Consultant Paediatric Neurologist at the Royal Manchester Children’s Hospital, UK; and Ally Shaw, primary caregiver of the patients mentioned in this article, explore how the disease impacts the normal development of predominantly young patients; consider its subtle evolution; and witness the stressful diagnostic odyssey families are experiencing, often leading to the wrong diagnosis, which is compounded by the lack of a national newborn screening. Jones and Ram speak directly about the diagnosis and management of these patients. This article also includes the experience of a mother of two affected children, one of whom was diagnosed thanks to their affected older sister, who gave the younger child the chance of receiving a timely treatment. In this disease, time is of the essence; often, patients are sadly diagnosed too late, and are destined to palliative care and premature death. It is hoped that this interview and testimony will help raise awareness on this disease, and give a chance to future patients and their families.
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