威尔逊氏病病例报告

Sandeep Goud Mitta, A. Divya, K. Bhumika, Md. Sania Mahek, S. Rohini
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摘要

铜在肝脏、大脑、角膜和肾脏中的蓄积是威尔逊氏病的特征,这是一种不常见的常染色体隐性遗传病。关于威尔逊氏病在印度的流行率和发病率,目前还没有基于社区的研究;本研究以医院为基础。病例概述:一名 10 岁女孩因排尿灼热、头晕、大便稀烂、便血、皮肤和巩膜变黄、全身酸痛、发烧和胃痛伴腹胀等严重症状被送到儿科就诊。通过腹部 USG,利用尿铜、全血图片、肝功能检查和血清电解质水平的升高以及脑磷脂水平的降低,确定了威尔逊氏病。在青少年中较少见的突出特征是 Kayser Fleisher 环。其特征是角膜边缘变色,呈绿褐色,治疗后最终会消失。在治疗过程中,她使用了益生菌、抗生素、保肝药和铜螯合剂(D-青霉胺和锌)。她的临床症状和低密度脂蛋白胆固醇水平逐渐得到改善。
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A Case Report on Wilson’s Disease
The accumulation of copper in the liver, brain, cornea, and kidneys is the hallmark of Wilson's disease, an uncommon autosomal recessive condition. There is no community-based research on the prevalence and incidence of Wilson's disease in India; this study is hospital-based. Overview of the Case: A 10-year-old girl with serious complaints of burning micturition, giddiness, loose stools and blood in stools, yellowish discolouration of skin and sclera, generalized body aches, fever and stomach pain with distension was brought to the paediatric department. Wilson's illness was established by abdominal USG using the increased levels of urine copper, whole blood picture, liver function tests, and serum electrolytes and decreased levels of ceruloplasmin. The prominent characteristic, which is less common in youngsters, is the Kayser Fleisher ring. It is identified by a discoloration of the corneal edge that is greenish-brown in colour and eventually goes away with treatment. Probiotics, an antibiotic, a hepatoprotective drug, and copper chelators (D-penicillamine and zinc) were used in her treatment. Gradually she showed improvement in clinical signs and LFT levels.
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