背景和目的:脯氨酸酶缺乏症(PD)是一种罕见的,危及生命,遗传决定的疾病,每100万出生1-2例。这种疾病抑制胶原蛋白合成,导致器官和系统衰竭,包括肝和脾肿大,免疫疾病,慢性溃疡性伤口,呼吸道感染,和肺纤维化。与这种疾病相关的问题的复杂性需要全面的方法和跨学科团队的参与。目的是提出治疗和护理计划,以及PD的并发症,一名年轻女子入住重症监护病房(ICU)后。材料与方法:回顾性单病例观察研究。结果:一名26岁的PD患者因急性呼吸衰竭在ICU住院。难以治愈的广泛腿部溃疡的存在和患者的免疫功能低下的状况导致败血症的发展与多器官衰竭(呼吸和循环,肝和肾衰竭)。复杂的专门治疗包括伤口准备,截肢,神经性疼痛的最小化,机械通气,肾脏替代疗法,循环稳定,并应用了预防疾病并发症和治疗方法。在住院的第83天,病人过期了。结论:尽管使用了复杂的治疗和护理,由于疾病的先进性和缺乏有效的治疗方法,治疗不成功。需要进行循证研究以制定有效的PD治疗指南。
Background and Objectives: Prolidase deficiency (PD) is a rare, life-threatening, genetically determined disease with an incidence of 1-2 cases per 1 million births. The disease inhibits collagen synthesis, which leads to organ and systems failure, including hepato- and splenomegaly, immune disorders, chronic ulcerative wounds, respiratory infections, and pulmonary fibrosis. The complexity of the problems associated with this disease necessitates a comprehensive approach and the involvement of an interdisciplinary team. The objective was to present the treatment and care plan, as well as complications of PD, in a young woman following admission to an intensive care unit (ICU). Materials and Methods: A retrospective observational single-
case study. Results: A 26-year-old woman with PD was hospitalized in the ICU for acute respiratory failure. The presence of difficult-to-heal extensive leg ulcers and the patient\'s immunocompromised condition resulted in the development of sepsis with multiple organ failure (respiratory and circulatory, liver and kidney failure). Complex specialized treatment consisting of wound preparation, limb amputation, the minimization of neuropathic
pain, mechanical ventilation, renal replacement therapy, circulatory stabilization, and the prevention of complications of the disease and of therapy were applied. On the 83rd day of hospitalization, the patient expired. Conclusions: Despite the use of complex treatment and care, due to the advanced nature of the disease and the lack of therapies with proven efficacy, treatment was unsuccessful. There is a need for evidence-based research to develop effective treatment guidelines for PD.