在患有基尿症的儿科患者中改善神经精神功能
Mitzie L Grant1, Elaina R Jurecki2, Shawn E McCandless3
1Drexel University College of Medicine, Philadelphia, PA.
The Journal of pediatrics
|June 1, 2023
概括
萨普罗二化物有效降低了患有基尿症 (PKU) 的儿童和青少年的血液氨 (Phe) 水平. 治疗还改善了家长报告的注意力不集中,过度活跃和执行功能症状.
科学领域:
- 生物化学 生物化学
- 儿科医学 儿科医学
- 神经科学是一个神经科学.
背景情况:
- 基尿症 (PKU) 是一种遗传性疾病,其特点是无法代谢氨酸 (Phe).
- 升高的Phe水平可能导致显著的神经精神障碍,包括注意力缺陷和执行功能障碍.
- 目前的PKU管理通常涉及严格的饮食限制,对神经精神病症状的治疗选择有限.
研究的目的:
- 研究沙普丁二化在降低儿科PKU患者血液Phe水平方面的疗效.
- 评估沙普二对神经精神病症状的影响,包括注意力不集中,过度活跃/冲动和执行功能.
- 评估萨普丁二化在这个人群中的安全性和耐受性.
主要方法:
- 一项随机,双盲,安慰剂对照试验,涉及86名患有PKU的儿童和青少年 (8-17岁).
- 参与者接受了13周的萨普特林或安慰剂治疗,随后又接受了13周的开放式萨普特林治疗阶段.
- 评估包括血液中的Phe水平,注意力缺陷/多动障碍评级尺度IV (ADHD RS-IV),执行功能的行为评级清单 (BRIEF),抑郁症的汉密尔顿评级尺度和焦虑症的汉密尔顿评级尺度.
主要成果:
- 与安慰剂 (+2.9%) 相比,萨普罗治疗导致血液Phe水平的平均显著降低 (-20.9%).
- 在沙普特林组与安慰剂组的ADHDRS-IV分数 (总,不注意,过度活跃/冲动) 中观察到显著改善.
- 森林地块表明萨普特林在ADHDRS-IV和BRIEF指数上优于安慰剂;在焦虑或抑郁症得分上没有显著差异.
结论:
- 萨普罗二化物有效地降低了儿科PKU患者的血液Phe水平.
- 治疗与父母报告的注意力不集中,多动/冲动和执行功能症状的显著改善有关.
- 萨普罗丁显示出良好的安全性概况,并且在研究群体中耐受良好.
相关概念视频
01:20Inborn Errors of Metabolism
207
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
207
01:21Overview of Protein Metabolism
1.4K
Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
1.4K
01:23Nonlinear Pharmacokinetics: Dependence of Elimination Half-Life and Dose Clearance
215
The elimination half-life and drug clearance of drugs following nonlinear kinetics can vary with dosage. The Michaelis-Menten parameters and drug concentration influence these factors. As the dose increases, the elimination half-life tends to lengthen, resulting in a reduction in clearance and a disproportionately larger area under the curve. The total clearance can be derived from the Michaelis-Menten equation for drugs following a one-compartment model.
A study on guinea pigs examined the...
A study on guinea pigs examined the...
215
01:28Chronic Kidney Disease III: Interprofessional Care
51
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...
51
01:26Psychosis: Goals of Pharmacotherapy
172
Antipsychotic drugs are a crucial treatment method for acute and chronic psychoses, bipolar illness, and behavioral disorders. The selection of these drugs depends on several factors, including the state of the disease, clinical judgment, possible drug interactions, and the patient's sensitivity to adverse effects. In immediate scenarios, such as delirium and dementia, short-term treatment with low doses of high-potency typical or atypical agents can effectively manage symptom exacerbation.
172
01:21Factors Affecting Drug Response: Overview
2.0K
When it comes to infants and young children, they are typically administered smaller doses of medication in comparison to adults. This is primarily because their organ functions still need to fully develop, meaning their bodies are not as efficient at metabolizing or eliminating drugs. Additionally, their blood-brain barrier is more permeable than in adults. As a result, high concentrations of drugs can easily penetrate the central nervous system (CNS), potentially leading to neurological...
2.0K