支气管-耳-肾综合征(Melnick-Fraser综合征)患儿支气管瘘1例临床报告

S. Yakovlev, T. Bakshi, A. Beglaryan, O. Topolnitskiy, A. Zhuravleva, D. A. Lezhnev
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摘要

的相关性。Branchio-oto-renal syndrome(又称Melnick-Fraser综合征)是一种罕见的以听力丧失、肾脏畸形和鳃裂囊肿(瘘管)合并为特征的综合征。本文描述了一个临床病例的男孩与非典型临床表现的支耳肾综合征。材料和方法。患者因急性炎症,听力损失和右侧下颌后区瘘道而入院。在急性炎症消退和必要的检查后,患者接受了瘘管切除术以确诊。我们分析了患者的路线,从第一次介绍到病人的全科医生,最后诊断在我们的诊所。通过对临床病例结果的分析,为Melnick-Fraser综合征患者提供最佳的诊断和治疗策略。正确诊断支耳肾综合征需要仔细的病史记录、临床检查和多学科团队的参与。这种方法将允许患者接受全方位的治疗,并保持生活质量。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Branchial fstula in children with branchio-oto-renal syndrome (Melnick-Fraser syndrome): a clinical case report
Relevance. Branchio-oto-renal syndrome (also known as Melnick-Fraser syndrome) is a rare syndrome characterized by hearing loss, renal malformations and branchial cyst (fistula) association. The article describes a clinical case of a boy with an atypical clinical picture of branchio-oto-renal syndrome.Material and methods. The patient was admitted to our clinic with acute inflammation, complaints of hearing loss and a fistulous tract in the right retromandibular region.Results. After the acute inflammation resolution and necessary investigations, the patient underwent a fistulectomy for diagnosis verification. We analyzed the patient routing from the first presentation to the patient's GP to the final diagnosis in our clinic. Based on this clinical case result analysis, we offered optimal diagnosis and treatment tactics for patients with Melnick-Fraser syndrome.Conclusion. Correct branchio-oto-renal syndrome diagnosis requires careful history taking, clinical examination and multidisciplinary team involvement. This approach will allow the patient to receive a full range of treatments with quality-of-life preservation.
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