在儿科肝病威尔逊病的挑战和困境
Upasana Ghosh1, Moinak Sen Sarma2, Arghya Samanta3
1Department of Pediatric Gastroenterology, Sanjay Gandhi Post graduate Institute of Medical Sciences, Lucknow 226014, Uttar Pradesh, India.
World journal of hepatology
|November 16, 2023
概括
威尔逊病的诊断和治疗在发展中国家存在重大挑战,原因是遗传突变报告不足和药物获取问题. 这篇评论强调了临床困境,并提出可交换的尿铜作为一种关键的诊断工具.
科学领域:
- 遗传学 遗传学 是一个
- 肝病学 肝病学是一种肝病学.
- 神经学 神经学
背景情况:
- 威尔逊病是一种由ATP7B基因突变引起的自体逆向性疾病,导致肝脏和大脑中的铜过载.
- 遗传突变在西方人群中得到了很好的记录,但在发展中国家却不太了解,这使得诊断复杂化.
- 诊断依赖于临床和实验室发现,经常与其他肝脏疾病重叠,造成诊断困境.
研究的目的:
- 审查发展中国家对威尔逊病管理的临床挑战和诊断困境.
- 突出与遗传突变文档,诊断工具和治疗可访问性相关的问题.
- 讨论在资源有限的环境中克服临床障碍的战略.
主要方法:
- 审查关于威尔逊病诊断和管理的现有文献.
- 分析发展中国家面临的具体挑战,包括遗传多样性和药物可用性.
- 讨论诊断评分系统,化疗法和新兴工具,如可交换的尿铜.
主要成果:
- 诊断评分系统不是最终的,临床表现可以模仿其他肝脏疾病.
- 像D-penicillamine和trientine这样的化剂的可用性和负担能力是主要问题,影响患者的遵守.
- 区分药物副作用与疾病进展是很困难的,特别是肝硬化和缩症等并发症.
结论:
- 发展中国家有效的威尔逊病管理需要解决诊断的不确定性和治疗的可访问性.
- 可更换的尿铜显示出作为诊断和预后工具的前景.
- 创新的方法和改进的资源配置对于更好的患者结果至关重要.
更多相关视频
07:35Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
Published on: June 23, 2015
11.5K
11:04Ion Mobility-Mass Spectrometry Techniques for Determining the Structure and Mechanisms of Metal Ion Recognition and Redox Activity of Metal Binding Oligopeptides
Published on: September 7, 2019
9.2K
相关概念视频
01:24Chronic Kidney Disease II: Clinical Manifestations
10
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...
10
01:25Peritoneal Dialysis III: Nursing Management
28
Peritoneal dialysis, or PD, utilizes the peritoneal membrane as a filter to eliminate excess fluid and waste products. Effective nursing management is essential for ensuring patient safety, preventing complications, and promoting optimal function of the peritoneal dialysis process.Assessment and MonitoringNurses must thoroughly assess the patient before, during, and after each dialysis session. Regular monitoring includes vital signs, daily weight, fluid intake and output, and laboratory values...
28
01:28Chronic Kidney Disease III: Interprofessional Care
13
Chronic kidney disease (CKD) requires collaborative and comprehensive management. CKD progresses through stages and can lead to end-stage kidney disease (ESKD) if untreated. Interprofessional collaboration and patient education are crucial, enabling patients to manage their health and improve their quality of life.Diagnostic approach for chronic kidney diseaseThe diagnosis of CKD primarily focuses on the glomerular filtration rate (GFR), which assesses kidney function by measuring how well...
13
01:25Chronic Kidney Disease I: Introduction
16
Chronic Kidney Disease (CKD) arises when the kidneys progressively lose their ability to function, ultimately leading to end-stage kidney disease (ESKD). At this advanced stage, the kidneys can no longer filter waste or maintain essential body functions, requiring renal replacement therapy (RRT) through dialysis or a kidney transplant for survival.Early-stage chronic kidney disease and detection challengesIn CKD's early stages, symptoms often remain absent because healthy nephrons compensate...
16
01:17Ethical Dilemmas I
925
Ethical dilemmas in nursing are of utmost importance, as they often arise from the tension between adhering to core ethical principles and the practical realities of healthcare delivery. These dilemmas require nurses to navigate complex situations where competing ethical considerations pull them in different directions.
Let us explore some examples to understand the potentially complex moral decisions nurses face.
Take the case of caring for minors, particularly in areas related to reproductive...
Let us explore some examples to understand the potentially complex moral decisions nurses face.
Take the case of caring for minors, particularly in areas related to reproductive...
925
01:18Chronic Kidney Disease IV: Nursing Management
9
Nursing management is essential for preventing complications, maintaining stability, and improving patients' quality of life in chronic kidney disease (CKD). By using a structured approach, nurses help slow CKD progression and support effective patient care.1. Comprehensive patient assessmentEffective management begins with nurses reviewing the patient’s medical history, and identifying key risk factors like diabetes, hypertension, and nephrotoxic drug use. Nurses assess signs of...
9