在一个7周大的婴儿中,发育不良,代谢性化和腹
Nikki R Lawson1, Joseph Angelo2, Eric Chiou3
1Divisions of Critical Care, Medicine.
Pediatrics
|August 1, 2024
概括
一种严重的婴儿代谢障碍导致了发育不良,电解质问题和呼吸衰竭. 治疗反应导致了排除的诊断,强调了在罕见的儿科病例中临床观察的重要性.
科学领域:
- 儿科 儿科 儿科
- 新生儿科学 新生儿科学
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 一个7周大的婴儿出现了严重的症状,包括代谢性酸性疾病,低血糖,乳酸水平升高和超氨血.
- 婴儿还表现出不成长,营养不良,贫血和维生素D缺乏.
研究的目的:
- 调查新生儿严重代谢障碍和不成长的原因.
- 根据临床表现和对治疗干预的反应来确定诊断.
主要方法:
- 在急诊室进行临床评估和复苏.
- 对代谢,营养和电解质异常进行广泛的实验室检查.
- 重症监护室 (ICU) 的管理,包括静脉注射液体和电解质替换,肠休息和呼吸支持.
- 肠道养试验和临床反应的观察.
主要成果:
- 最初的复苏和支持性护理导致了稳定.
- 重复出现严重的症状,包括松散的便和电解质异常,在重新引入肠道料后.
- 症状的耐药性与标准的肠道补充剂有关.
- 基于患者的临床过程和对治疗的反应,达成了排除的诊断.
结论:
- 婴儿的表现模仿了严重的代谢和营养缺陷.
- 对治疗的临床反应,特别是肠道养后症状的复发,对于诊断至关重要.
- 排除的诊断强调了罕见的儿科代谢障碍的复杂性和综合临床和实验室发现的重要性.
相关概念视频
Overview of Protein Metabolism
921
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...
921
Acute Respiratory Failure-III
167
Hypercapnic respiratory failure, also known as Type 2 or ventilatory respiratory failure, is a severe condition characterized by the body's inability to effectively remove carbon dioxide (CO2) from the bloodstream. It leads to an arterial CO2 pressure (PaCO2) exceeding 45 mmHg and a blood pH above 7.35. This situation indicates that the body's ventilatory demand, or the ventilation needed to maintain normal PaCO2 levels, surpasses its supply or the maximum gas flow achievable without...
167
Disorders of Acid-Base Balance
171
The human body maintains a precise pH range of arterial blood between 7.35 and 7.45. Deviations result in either acidosis (pH < 7.35) or alkalosis (pH > 7.45). These conditions are further classified as respiratory or metabolic disorders based on their underlying cause.
Respiratory Acidosis and Alkalosis
Respiratory acidosis occurs due to an increase in the partial pressure of carbon dioxide PCO2 in the blood. It often arises from shallow breathing or impaired gas exchange caused by...
Respiratory Acidosis and Alkalosis
Respiratory acidosis occurs due to an increase in the partial pressure of carbon dioxide PCO2 in the blood. It often arises from shallow breathing or impaired gas exchange caused by...
171
Acute Respiratory Failure-I
184
Acute respiratory failure is a condition characterized by the inability of the lungs to perform their primary function: gas exchange. This failure leads to insufficient oxygen levels (hypoxemia) in the blood, elevated carbon dioxide levels (hypercapnia), or both, causing critical impairment in organ function.
Definition: It is defined by specific criteria based on blood gas measurements. Hypoxemia happens when the partial pressure of oxygen (PaO2) falls below 60 mmHg. At the same time,...
Definition: It is defined by specific criteria based on blood gas measurements. Hypoxemia happens when the partial pressure of oxygen (PaO2) falls below 60 mmHg. At the same time,...
184
Pathophysiology of Diabetes
913
Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
913
Diagnosing Acidosis and Alkalosis
179
Diagnosing acid-base imbalances involves systematically analyzing arterial blood samples, focusing on three key measurements: pH, bicarbonate (HCO3−) concentration, and carbon dioxide partial pressure (PCO2). This analysis follows a four-step process that helps identify the imbalance's underlying cause and nature.
First, the pH level is assessed to determine whether the blood pH is normal (7.35–7.45), low (acidosis), or high (alkalosis).
Next, the PCO2 and...
First, the pH level is assessed to determine whether the blood pH is normal (7.35–7.45), low (acidosis), or high (alkalosis).
Next, the PCO2 and...
179


