38岁时被诊断出迪乔治综合征:在低资源环境中的挑战和错误诊断的影响
William Kuenstner1, Suthee Rapisuwon2, Leila Shobab3
1Division of Endocrinology, Department of Medicine, MedStar Georgetown University Hospital, Washington, DC 20007, USA.
JCEM case reports
|July 25, 2024
概括
本案例研究详细介绍了一名38岁的妇女,被诊断患有22q11.2删除综合征 (22.q11.2 DS),强调了诊断挑战和延迟检测这种遗传疾病.
科学领域:
- 遗传学 遗传学 是一个
- 内分泌学 在内分泌学.
- 儿科 儿科 儿科
背景情况:
- 22q11.2删除综合征 (22.q11.2 DS) 是一种具有多种表现的遗传疾病,通常在儿童时期被诊断出来.
- 延迟诊断可能会使管理复杂化,并影响患者的治疗结果.
研究的目的:
- 要呈现一个晚年诊断的成年发病的22q11.2 DS病例.
- 为了说明诊断挑战和延迟诊断的影响.
主要方法:
- 一个38岁的女性的临床病例介绍.
- 审查患者的病史,包括内分泌,发育和感染问题.
- 基因检测证实22.q11.2 DS具有2.6Mb删除,包括TBX1基因.
主要成果:
- 在一个患有甲状腺功能低下症,低血症,口腔裂,面部异常,复发性感染,矮身和动脉节律缺陷的成年患者中诊断22.q11.2 DS.
- 在染色体22q11.2.2.上鉴定了TBX1的异体全基因删除和2.6Mb微删除段的鉴定.
结论:
- 这一案例强调了在成年人中考虑22.q11.2 DS的重要性,这些成年人有一系列无法解释的症状.
- 22.q11.2 DS的延迟诊断可能导致长期未被诊断的发病率,并带来重大管理挑战.
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