13 三体综合征、家庭保健和多学科方法:病例报告。

IF 2
Patrícia Zschaber Anacleto, Virginia Araújo de Sousa, Julliane V Joviano-Santos
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引用次数: 0

摘要

目的:通过介绍接受家庭护理服务的 2 岁患者的病例研究,认识并解决帕陶氏综合征这一罕见且预期寿命短的疾病:尽管帕陶氏综合征十分罕见且预期寿命较短,但我们仍希望通过对一名接受家庭护理服务的 2 岁患者的病例研究,认识并解决帕陶氏综合征问题:我们介绍了一名女患者,她不畏艰险,延长了存活时间,这可能归功于家庭护理服务。由于子宫发育受限,她在 31 周+4 天时通过剖腹产分娩。产妇 36 岁,接受过适当的产前护理,健康状况良好。出生后通过核型检查确诊为帕陶氏综合征。尽管该病例的临床性质非常严重,但患者现在已经两岁了,在气管造口术和胃造口术的支持下,接受专门的家庭护理。一名 24 小时专职护理技师确保对患者进行持续监测,患者还受益于定期体检、每周五次的物理治疗、每周一次的言语治疗、每月一次的营养师咨询以及家人持续的心理支持:评论:这种多学科治疗方法使患者的运动反应略有改善,凸显了综合护理对患者整体健康的积极影响。为面临类似挑战的家庭建立一个强大的支持网络至关重要,多学科护理可以有效预防这种影响巨大的综合征所带来的并发症。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Trisomy 13, home health-care and multidisciplinary approach: Case report.

Objective: To recognize and address Patau's syndrome, despite its rarity and associated low life expectancy, through the presentation of a case study of a 2-year-old patient receiving Home Care services.

Case description: We present a female patient who defied the odds with a prolonged survival, possible due to Home Care. She was delivered via cesarean section at 31 weeks + 4 days due to restricted uterine growth. The mother, aged 36, had received proper prenatal care and was in good health. The diagnosis of Patau's syndrome was confirmed through karyotyping after birth. Despite the severe clinical nature of the case, the patient, now with two years old, receives specialized home-based care, supported by a tracheostomy and gastrostomy. A dedicated 24-hour nursing technician ensures continuous monitoring, and the patient benefits from regular medical check-ups, physiotherapy five times a week, weekly speech therapy sessions, monthly consultations with a nutritionist, and ongoing psychological support for her family members.

Comments: This multidisciplinary approach has resulted in a slight motor response, highlighting the positive impact of comprehensive care on her overall well-being. The existence of a robust support network for families facing similar challenges is crucial, and a multidisciplinary care can effectively prevent complications associated with this impactful syndrome.

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