婴儿期高纳血症的具有挑战性的病例
Katherine Hawton1,2, Louise Galloway3, Matthew Harmer4,5
1University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK katherine.hawton@uhbw.nhs.uk.
Archives of disease in childhood. Education and practice edition
|August 29, 2024
概括
这一案例凸显了婴儿阿尔金因压素 (AVP) 疾病的诊断挑战. 提升的可佩和基因测试证实了AVP的耐药性,而不是缺乏.
科学领域:
- 儿科内分泌学 儿科内分泌学
- 腎臟病學 (nephrology) 是一種醫學專業.
- 遗传学 遗传学 是一个
背景情况:
- 发烧和休克的婴儿可能会表现出模仿脱水的症状,使初始诊断复杂化.
- 高尿量与不一致的血和尿液透性表明氨酸压缩素 (AVP) 的障碍,以前是无味糖尿病 (DI).
- 在适当的管理中,区分AVP缺乏 (头骨DI) 和AVP抗性 (神经性DI) 是至关重要的.
研究的目的:
- 为了在婴儿身上呈现一个X链接的血管压素耐药性的病例.
- 为了说明诊断在区分AVP缺乏与早期婴儿期的抵抗方面的困难.
- 强调可佩和基因测试在诊断AVP疾病中的有用性.
主要方法:
- 一个月大的男婴患有发烧,休克和电解质异常的临床表现.
- 内分泌检测包括血和尿液度,甲状腺功能测试,以及对德斯莫普林素的反应.
- 测量平素水平和基因查管病变,特别是AVP受体2基因.
主要成果:
- 婴儿呈现出高纳血症,高血症和休克症状,最初因败血症引起的脱水而接受治疗.
- 尽管剂量升级,但对德斯莫普林素的反应不佳表明AVP耐药性.
- 显著升高的可佩水平和AVP受体2基因中的病原性变异证实了X链接的血管压素耐药性.
结论:
- 在婴儿中区分AVP缺乏和耐药性可能是具有挑战性的.
- 平素作为一个有价值的替代标志物用于AVP水平.
- 基因检测对于确认遗传性AVP受体疾病的诊断和指导管理至关重要.
相关概念视频
01:25Regulation of Water Intake
486
Osmolality refers to the number of solute particles per kilogram of solvent in a solution. Plasma osmolality specifically indicates the total number of solute particles per kilogram of water in blood plasma. This value reflects the body's hydration status and is tightly regulated through mechanisms controlling water intake and output. While water consumption is a conscious decision, the body has intrinsic regulatory systems to maintain fluid balance. Dehydration, a state of water deficit...
486
01:29Disorder of Water Balance
320
Water balance disorders are medical conditions that occur when there is a deviation from the body's water volume or osmolarity, disrupting normal homeostasis and leading todehydration, hypotonic hydration, hyperhydration, edema, or water intoxication.
Dehydration
Dehydration occurs when the body loses fluids (particularly water).
Causes:
The major causes of dehydration include excessive sweating, fever, vomiting, diarrhea, and diuresis.
Signs and Symptoms:
Symptoms primarily include intense...
Dehydration
Dehydration occurs when the body loses fluids (particularly water).
Causes:
The major causes of dehydration include excessive sweating, fever, vomiting, diarrhea, and diuresis.
Signs and Symptoms:
Symptoms primarily include intense...
320
01:24Renal Tubule and Collecting Duct
864
The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
864
01:23Formation of Concentrated Urine
1.6K
There is a gradient of solutes in the interstitial fluid from the renal cortex through the medulla, known as the medullary osmotic gradient. The juxtamedullary nephrons establish and maintain this gradient using countercurrent mechanisms with loops extending deep into the medulla. These nephrons also use countercurrent mechanisms to regulate urine volume and concentration. The interaction between the descending and ascending limbs of the nephron loop creates an osmotic gradient through...
1.6K
01:20Formation of Dilute Urine
1.4K
The formation of dilute urine is a critical renal adaptation that maintains fluid balance, particularly during periods of high fluid intake. This process primarily involves the juxtamedullary nephrons. By adjusting the permeability of water and ions in response to physiological conditions, the kidneys can either conserve or excrete water, resulting in concentrated or dilute urine.
Filtrate Osmolarity in the PCT
Initially, as the filtrate passes through the proximal convoluted tubule (PCT), its...
Filtrate Osmolarity in the PCT
Initially, as the filtrate passes through the proximal convoluted tubule (PCT), its...
1.4K
01:26Regulation of Sodium and Potassium
451
The regulation of sodium and potassium ion concentrations in the human body is a complex process governed primarily by hormones such as aldosterone, antidiuretic hormone (ADH), and atrial natriuretic peptide (ANP).
Sodium Regulation
Sodium ions make up approximately 90% of extracellular cations, with a normal blood plasma concentration of 136–148 mEq/L. A decrease in blood volume and pressure triggers the release of renin from granular cells in the juxtaglomerular complex (JGC), primarily...
Sodium Regulation
Sodium ions make up approximately 90% of extracellular cations, with a normal blood plasma concentration of 136–148 mEq/L. A decrease in blood volume and pressure triggers the release of renin from granular cells in the juxtaglomerular complex (JGC), primarily...
451