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基因检测的重要性:一个三兄弟姐妹家庭中两名兄弟姐妹患威尔逊氏病的病例报告

The Importance of Genetic Testing: A Case Report of Wilson's Disease in Two Siblings of a Three-Sibling Family.

作者信息

Govindan Siva, Santhanam Jennie, S N Meenakshi Sundari, U Jeyapriya, Shanmukha Sai Bolisetty

机构信息

General Medicine, Sri Ramaswamy Memorial Medical College Hospital and Research Centre, Kattankulathur, IND.

出版信息

Cureus. 2025 Jan 23;17(1):e77891. doi: 10.7759/cureus.77891. eCollection 2025 Jan.

Abstract

Mutations in the adenosine triphosphatase (ATPase) copper transporting beta (ATP7B) gene result in Wilson's disease (WD), a rare autosomal recessive condition that affects copper metabolism, leading to its accumulation in multiple tissues, including the liver and the brain. This case report details the clinical presentation of three siblings born out of a consanguineous marriage, each displaying different manifestations. The youngest sibling exhibited significant hepatic and neurological symptoms, the middle sibling experienced neuropsychiatric issues, and the eldest one initially showed psychological distress without classic symptoms of WD. Genetic testing confirmed WD in the symptomatic siblings and ruled it out in the eldest, guiding their personalized treatment plans and reducing psychological stress. This case emphasizes the critical role of genetic testing in the early diagnosis, management, and familial risk assessment of WD. Additionally, it highlights the necessity of a comprehensive approach that includes medical, psychological, and social support to enhance the prognosis of the illness.

摘要

三磷酸腺苷酶(ATP酶)铜转运β(ATP7B)基因突变会导致威尔逊病(WD),这是一种罕见的常染色体隐性疾病,会影响铜代谢,导致铜在包括肝脏和大脑在内的多个组织中蓄积。本病例报告详细介绍了一对近亲结婚所生的三个兄弟姐妹的临床表现,他们每个人都表现出不同的症状。最小的兄弟姐妹表现出明显的肝脏和神经症状,中间的兄弟姐妹有神经精神问题,最大的最初表现为心理困扰,没有WD的典型症状。基因检测证实有症状的兄弟姐妹患有WD,排除了最大的那个兄弟姐妹患病的可能,为他们制定了个性化的治疗方案,并减轻了心理压力。本病例强调了基因检测在WD的早期诊断、管理和家族风险评估中的关键作用。此外,它还强调了采取综合方法的必要性,这种方法包括医疗、心理和社会支持,以改善疾病的预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/62fe/11848242/257c543b57a9/cureus-0017-00000077891-i01.jpg

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