质量评估的患者经验的原发性高氧化类型1:一个观察性研究
David Danese1, Diana Goss2, Carla Romano2
1Alnylam Pharmaceuticals, 675 West Kendall St, Cambridge, MA, 02142, USA. ddanese@alnylam.com.
BMC nephrology
|October 26, 2023
概括
一次性高氧化尿1型 (PH1) 严重影响患者和护理人员,导致难以诊断的旅程和相当大的生命负担. 管理挑战,特别是透析,是显著的,突出需要更好的PH1干预措施.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學專業.
- 罕见疾病 罕见疾病
- 遗传学 遗传学 是一个
背景情况:
- 初级高氧化尿1型 (PH1) 是一种罕见的遗传性疾病,会导致逐渐的损伤和全身并发症.
- 有效的干预措施是有限的,患者和护理人员所经历的经验是不充分记录的.
- PH1对生活质量造成重大负担.
研究的目的:
- 描述PH1患者的诊断过程.
- 描述患者和护理人员在整个疾病过程中自我报告的经历.
- 确定PH1管理中的挑战和所需利益.
主要方法:
- 使用深入的,半结构化的电话采访进行的观察性研究.
- 持续进行比较分析,以确定患者和护理人员体验中占主导地位的主题.
- 符合条件的参与者包括12岁以上的个人和6至17岁的儿童的照顾者,他们的遗传确诊PH1.
主要成果:
- 长时间的诊断旅程被报告,通常是由于疾病意识低.
- PH1诊断经常出现症状表现,包括结石和外表现.
- 青少年经历了焦虑和社会障碍;成年人面临身体功能受损;照顾者报告了各种影响. 晚期PH1的透析非常繁重,COVID-19大流行加剧了这种情况.
- 预期的管理效益包括氧酸盐水平降低,结石减少,尿道症状和皮肤减少.
结论:
- 由于疾病的表现和管理挑战,PH1严重影响患者和护理人员.
- 情绪,身体和实际影响是相当大的.
- 晚期疾病管理,特别是透析,带来了巨大的负担,需要进一步关注和支持.
相关概念视频
01:17Assessment of the Gastrointestinal System I: Subjective Data
202
Assessing the gastrointestinal (GI) system is a complex process that begins with collecting subjective data. This data, collected through patient interviews, provides crucial insights into the patient's health history, perception patterns, and lifestyle habits, all contributing significantly to GI health.
Health History
The initial step in assessing the GI system is obtaining a comprehensive health history. This includes inquiring about the patient's history or presence of problems...
Health History
The initial step in assessing the GI system is obtaining a comprehensive health history. This includes inquiring about the patient's history or presence of problems...
202
01:29Assessment of the Gastrointestinal System II: Health Perception Pattern
122
Assessing the gastrointestinal (GI) system is a complex process that begins with collecting subjective data. This data, collected through patient interviews, provides crucial insights into the patient's health history, perception patterns, and lifestyle habits, all contributing significantly to GI health.
Health Perception Patterns
Health perception patterns offer valuable insights into a patient's lifestyle habits and how they may impact their GI health. These patterns include:
Health Perception Patterns
Health perception patterns offer valuable insights into a patient's lifestyle habits and how they may impact their GI health. These patterns include:
122
01:24Chronic Kidney Disease II: Clinical Manifestations
12
Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
12
01:21Nursing Assessment of the Genitourinary System I: Health History
26
The genitourinary system is critical to maintaining fluid balance, waste elimination, and reproductive function. Nurses play a vital role in assessing this system, beginning with a thorough health history. This process involves gathering patient information, identifying risk factors, and recognizing symptoms of genitourinary disorders. Early detection is vital for timely interventions and management.1. Gathering Patient InformationA complete health history includes the patient’s personal,...
26
01:29Urine Studies I: Urinalysis
21
Urinalysis is a widely used diagnostic test that analyzes urine's physical, chemical, and microscopic characteristics. Healthcare providers use it to detect and monitor various health conditions, including renal disease, urinary tract infections (UTIs), diabetes, and metabolic or systemic disorders.Components of UrinalysisUrinalysis consists of three primary components: physical, chemical, and microscopic examination. Each provides unique insights into the urine sample and, by extension, the...
21
01:26Nursing Assessment of the Genitourinary System II: Inspection and Palpation
127
The nursing assessment of the genitourinary (GU) system involves a systematic inspection and palpation to identify abnormalities in the kidneys, bladder, and surrounding structures.InspectionMouth: Inspect for signs of kidney dysfunction, such as stomatitis (inflammation of the mouth) and ammonia breath, which may occur in advanced kidney disease due to the buildup of urea, breaking down into ammonia.Skin: Check for pallor, which could indicate anemia caused by kidney disease. Look for...
127