吉特曼综合征表现为急性低血压:一个病例报告
Rahul Gunde1, Jayashankar Ca2, Nuthan Bhat2
1Neurology, Vydehi Institute of Medical Sciences and Research Centre, Bangalore, IND.
Cureus
|October 30, 2023
概括
吉特曼综合征 (GS) 是一种罕见的脏疾病,可以呈现为模仿吉兰-巴雷综合征 (GBS) 的急性. 在这种情况下,早期的电解质校正导致了症状的快速改善.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學專業.
- 神经学 神经学
- 遗传学 是一个遗传学.
背景情况:
- 吉特曼综合征 (GS) 是一种罕见的遗传性管病变.
- 它通常呈现出轻微的症状,如盐浪费和代谢性.
- 急性松性是一种异常罕见的GS的表现.
研究的目的:
- 报告一种独特的吉特曼综合征病例,呈现为急性低血压性.
- 为了强调当GS模仿吉林巴雷综合征 (GBS) 时的诊断挑战.
- 强调需要更多关于印度次大陆GS表现的数据.
主要方法:
- 一个中年男性的病例报告,肢体疲软和麻醉症进展.
- 临床诊断最初被认为是吉兰-巴雷综合征 (GBS).
- 实验室调查发现低血,低磁性血,代谢性,低血,肌酸激酶升高,脏损耗,证实了吉特曼综合征 (GS).
主要成果:
- 患者出现了模仿吉兰-巴雷综合征 (GBS) 的症状,包括低血压,全身反弹症和四肢虚弱.
- 实验室发现是吉特曼综合征 (GS) 的特征:低血,低血,代谢性,低血和脏耗.
- 患者经历了电解质校正的快速症状改善.
结论:
- 吉特曼综合征 (GS) 可以异常表现为急性松性,构成诊断挑战.
- 这一案例强调了在病呈现时考虑电解质失衡的重要性,即使怀疑GBS.
- 需要对吉特曼综合征 (GS) 在印度次大陆等多元人口中的表现进行进一步的研究.
相关概念视频
Disorders of the Skeletal Muscle
968
The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
968
Chronic 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
Inborn Errors of Metabolism
167
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...
167
Overview of Protein Metabolism
1.3K
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...
1.3K
Depolarizing Blockers: Mechanism of Action
1.6K
Depolarizing blockers act on skeletal muscle fibers' membranes and induce their depolarization. Most depolarizing blockers have two quaternary N+ atoms that bind the nicotinic acetylcholine receptors and cause neuromuscular blockade within minutes.
Succinylcholine is the most commonly used depolarizing blocker. Chemically, it constitutes two molecules of acetylcholine joined together by an acetate methyl group. They act on the receptors in the same way as acetylcholine. Because...
Succinylcholine is the most commonly used depolarizing blocker. Chemically, it constitutes two molecules of acetylcholine joined together by an acetate methyl group. They act on the receptors in the same way as acetylcholine. Because...
1.6K
Antiepileptic Drugs: Potassium Channel Activators
192
Ezocgabine or retigabine, an antiepileptic drug of remarkable efficacy, has revolutionized the management of seizures. It is a potassium channel activator, explicitly targeting the family of Q subtype potassium channels. It enhances the transmembrane potassium currents, regulating neuronal excitability. This action stabilizes the resting membrane potential, a pivotal factor in mitigating the hyperexcitability that characterizes epilepsy.
Ezogabine has gained approval as an adjunctive treatment...
Ezogabine has gained approval as an adjunctive treatment...
192


