先天性代谢错误的遗传咨询

Komal Uppal, Richa Nijhawan, Seema Thakur
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引用次数: 0

摘要

先天性代谢异常(IEM)疾病是导致新生儿发病和死亡的重要因素,需要独特的多学科医疗保健,包括遗传咨询,以减轻这些疾病的负担,提高患者的生活质量。遗传咨询除了其基本要素、临床遗传学方面和 IEMs 的管理外,还有助于了解家人对该疾病的认识和态度,促使他们接受和适应这种情况。通过本文,我们将分享为代谢紊乱患者提供遗传咨询的经验,并强调咨询在提供正确的指导性护理中的作用,以及找到面对严峻挑战的可行方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic counselling for inborn error of metabolism
Inborn error of metabolic (IEM) disorders being an important contributor for neonatal morbidity and mortality require unique and multidisciplinary health care including genetic counselling to reduce the burden of these disorders and to improve the quality of life of the patient. Genetic counselling, besides its basic elements, clinical genetic aspects and management of IEMs; also helps to understand family's knowledge and attitude towards the disorder, to motivate them to accept and adapt to the situation. Through this paper we are sharing our experience of providing genetic counselling to patients of metabolic disorders and emphasizing the role of counselling in imparting right directive care and to find possible ways to face the formidable challenges.
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