首例报告的澳大利亚原住民多发性内分泌肿瘤 1 型病例。

IF 0.7 Q4 ENDOCRINOLOGY & METABOLISM Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2024-09-27 Print Date: 2024-07-01 DOI:10.1530/EDM-24-0004
Edward Mignone, Kirsten Neal
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引用次数: 0

摘要

摘要:多发性内分泌瘤病 1 型(MEN1)需要高度怀疑,晚期诊断可能导致严重后果。遗传咨询是治疗的重要组成部分,但在澳大利亚原住民群体中,缺乏有关最佳方法的证据。我们的病例涉及一名居住在偏远地区的48岁澳大利亚土著女性,她于2020年因持续性高钙血症接受了内分泌住院团队的复查,其背景是2011年因原发性甲状旁腺功能亢进症(PHPT)接受了甲状旁腺切除术,当时她因急性慢性腹痛住进了当地医院。相关病史包括多次肺栓塞/深静脉血栓形成、心肌梗塞、心房颤动、慢性血栓栓塞性肺动脉高压、右心衰、人类T淋巴细胞病毒1、反复腹痛和胃食管反流病。2013年和2015年的胃镜检查显示,患者患有慢性胃炎,并伴有数百个胃息肉。随后的实验室检查、神经内分泌肿瘤(NET)筛查和CT成像显示,PHPT复发,新诊断为卓-艾综合征。68-gallium-DOTATATE PET/CT 符合转移性 NET 的诊断。垂体检查结果正常。基因检测证实,MEN1基因第2外显子中存在罕见的c.207dupC杂合变异。由于患有晚期并发症,治疗以对症为主。曾尝试进行遗传咨询,但由于文化和后勤方面的障碍,家人拒绝了进一步的检测。不幸的是,她于 2021 年死于多因素呼吸衰竭。本病例突出表明,需要为偏远地区的澳大利亚土著居民提供更好的遗传咨询系统,并强调了早期识别的重要性以及偏远地区在做出此类罕见诊断时所面临的挑战:学习要点:偏远地区的医疗系统往往缺乏足够的专科医疗服务,导致罕见疾病的诊断延迟,并导致发病率和死亡率。需要进一步开展研究和工作,为偏远地区的澳大利亚原住民提供文化上适宜的遗传咨询系统。诊断 MEN1 需要高度怀疑。任何被诊断患有原发性甲状旁腺功能亢进症的患者都应考虑MEN1,年龄
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First reported case of multiple endocrine neoplasia type 1 in an Australian Aboriginal.

Summary: Multiple endocrine neoplasia type 1 (MEN1) requires a high level of suspicion, and late diagnosis can lead to dire outcomes. Genetic counselling is an important part of management, with a lack of evidence surrounding an optimal approach in Aboriginal Australian populations. Our case surrounds a remote-dwelling 48-year-old Aboriginal Australian female who was reviewed by an inpatient endocrine team in 2020 for persistent hypercalcaemia on a background of a parathyroidectomy in 2011 for primary hyperparathyroidism (PHPT), while she was admitted to a local hospital for acute chronic abdominal pain. Relevant medical history included multiple pulmonary embolisms/deep vein thrombosis, myocardial infarction, atrial fibrillation, chronic thromboembolic pulmonary hypertension, right heart failure, human T-lymphotropic virus 1, recurrent abdominal pain, and gastro-oesophageal reflux disorder. Gastroscopies from 2013 and 2015 demonstrated chronic gastritis with hundreds of gastric polyps. Subsequent laboratory studies, neuroendocrine tumour (NET) screening, and CT imaging demonstrated a recurrence of PHPT and a new diagnosis of Zollinger-Ellison syndrome. A 68-gallium-DOTATATE PET/CT was in keeping with metastatic NET. Pituitary studies were normal. Genetic testing confirmed a rare heterozygous variant of c.207dupC in exon 2 of the MEN1 gene. Treatment was symptom based due to terminal comorbidities. Genetic counselling was attempted; however, cultural and logistical barriers were identified and the family declined further testing. Unfortunately, she died in 2021 from multifactorial respiratory failure. This case highlights the need for better approaches to genetic counselling systems for remote Aboriginal Australians and emphasizes the importance of early recognition and the challenges faced in remote areas in making such rare diagnoses.

Learning points: Remote healthcare systems often lack access to adequate specialist care, resulting in delayed diagnosis of rare conditions and leading to morbidity and mortality. Further research and work need to be done to provide culturally appropriate genetic counselling systems in remote Aboriginal Australians. A high index of suspicion is required to diagnose MEN1. Consider MEN1 in any patient diagnosed with primary hyperparathyroidism, with age <40, and/or with the presence of multiglandular disease or with the presence of Zollinger-Ellison syndrome. MEN1 may be under-recognized in Aboriginal Australians.

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来源期刊
CiteScore
1.50
自引率
0.00%
发文量
142
审稿时长
9 weeks
期刊介绍: Endocrinology, Diabetes & Metabolism Case Reports publishes case reports on common and rare conditions in all areas of clinical endocrinology, diabetes and metabolism. Articles should include clear learning points which readers can use to inform medical education or clinical practice. The types of cases of interest to Endocrinology, Diabetes & Metabolism Case Reports include: -Insight into disease pathogenesis or mechanism of therapy - Novel diagnostic procedure - Novel treatment - Unique/unexpected symptoms or presentations of a disease - New disease or syndrome: presentations/diagnosis/management - Unusual effects of medical treatment - Error in diagnosis/pitfalls and caveats
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