在Camurati-Engelmann疾病中,一个患有 papilledema 的病例被有效地用prednisolone治疗
Maho Asai1, Akira Gomi2, Nobuhiro Ibaraki3
1Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
概括
卡穆拉蒂-恩格尔曼病 (CED) 用普雷迪尼索隆治疗显示在减少骨头疼痛和乳头炎症方面具有有效性. 这种类固醇治疗也可以改善这种罕见遗传疾病的患者的视觉功能.
科学领域:
- 遗传学和分子生物学
- 内分泌学 在内分泌学.
- 眼科医生 眼科 眼科
背景情况:
- 卡穆拉蒂-恩格尔曼病 (CED) 是一种罕见的遗传性疾病,其特征是骨疼痛,肌肉衰弱和神经问题.
- 病理生理学涉及转化生长因子β1 (TGFB1) 基因中的功能增益变异.
- 眼科症状,如乳腺炎,往往源于内压力升高和视通道狭窄.
研究的目的:
- 举报一个病例,在Camurati-Engelmann病患者中,普雷迪尼索隆有效治疗了 papilledema.
- 评估普得尼索隆对CED骨疼痛和眼科症状的影响.
主要方法:
- 一个被诊断患有卡穆拉蒂-恩格尔曼病的病人的病例报告.
- 临床评估包括 funduscopy,骨疼痛评估,以及炎症标志物 (CRP,ALP).
- 用STIR序列进行脑磁共振成像 (MRI),以评估视神经胀.
主要成果:
- 患者表现出增加的骨疼痛,发烧,升高的CRP和ALP,以及双边乳头炎.
- 大脑MRI显示了眼神两部分的变化.
- 普雷尼索隆的使用导致骨头疼痛,发烧和乳头发的改善,右眼的视力略有改善.
结论:
- 普雷迪尼索隆在治疗卡穆拉蒂-恩格尔曼病患者的乳头炎和相关症状方面表现出有效性.
- 这些发现表明,普得尼索隆可能是CED眼科表现的治疗选择.
- 需要进一步的研究来证实类固醇在治疗CED相关视力障碍中的作用.
相关概念视频
01:28Angle Closure Glaucoma: Treatment
577
Angle-closure glaucoma, or closed-angle glaucoma, is an eye condition where the iris bulges out and blocks the iridocorneal angle, resulting in a buildup of aqueous humor and increased intraocular pressure. Immediate medical attention is necessary due to the sudden onset of symptoms. The treatment for angle-closure glaucoma includes short-term and long-term approaches. Short-term treatment involves using eye drops like pilocarpine to lower intraocular pressure by increasing aqueous humor...
577
01:27Open Angle Glaucoma: Treatment
481
In open-angle glaucoma, the iridocorneal angle remains open, but the trabecular meshwork becomes stiff, slowing down the outflow of aqueous humor. This causes a buildup of aqueous humor in the anterior chamber, leading to a sudden increase in intraocular pressure. The treatment for open-angle glaucoma focuses on reducing the elevated intraocular pressure by either decreasing the secretion of aqueous humor or increasing its outflow.
Drugs such as carbonic anhydrase inhibitors, α2- and...
Drugs such as carbonic anhydrase inhibitors, α2- and...
481
01:25Glaucoma: Overview
630
Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
630
01:26Nephrotic Syndrome II : Assessment and Medical Management
10
IntroductionNephrotic syndrome is a kidney disorder marked by excessive protein loss in the urine, leading to various systemic complications. This condition often results from damage to the glomeruli—the kidney's filtering units—causing proteinuria, low blood protein levels, and fluid retention. Understanding the assessment, diagnosis, and management of nephrotic syndrome is essential for effective treatment and prevention of further kidney damage.AssessmentPatient History: Document...
10
01:17Pericarditis III: Medical Management
16
The primary objectives of managing pericarditis are to determine the underlying cause, provide effective therapy for treatment and symptom relief, and promptly detect signs and symptoms of cardiac tamponade. The following outlines the essential aspects of medical management for pericarditis:ObjectivesDetermine the Cause: Identifying the underlying cause of pericarditis is crucial for targeted treatment. Causes include viral infections, autoimmune diseases, post-cardiac injury syndrome, and...
16