Pierson综合征表现为Alport综合征:1例报告

Bangabandhu Sheikh Mujib Medical University Journal Pub Date : 2023-09-27 DOI:10.3329/bsmmuj.v16i3.68478

Samina Masud Santa, Tahmina Akter Diba, Abdullah Al Mamun, Afroza Begum, Syed Saimul Haque

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引用次数: 0

摘要

我们报告一个3岁10个月大的女孩皮尔森综合征。肾活检显示提示Alport综合征的特征。遗传研究报告显示LAMB2突变被认为是(肾病综合征，伴有或不伴有眼部异常的5型和Pierson综合征)，TRIM8突变被认为是(FSGS和神经发育综合征)。病人正在接受支持性治疗。Bangabandhu Sheikh Mujib医科大学学报;2023;16(3):178-181

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Pierson syndrome presenting as Alport syndrome: A case report

We report a 3 year 10 month old girl with Pierson syndrome. Kidney biopsy showed features suggestive of Alport syndrome. Genetic study report showed LAMB2 mutation which are considered to (Nephrotic syndrome, type 5 with or without ocular abnormalities and Pierson syndrome), TRIM8 mutation which are considered to (FSGS and neurodevelopmental syndrome). The patient is getting supportive therapy. Bangabandhu Sheikh Mujib Medical University Journal 2023;16(3): 178-181

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Bangabandhu Sheikh Mujib Medical University Journal

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审稿时长

12 weeks