小儿甲状旁腺瘤误诊的长期后果。

IF 0.5 Q4 PEDIATRICS
Case Reports in Pediatrics Pub Date : 2025-07-08 eCollection Date: 2025-01-01 DOI:10.1155/crpe/2390925
Dorota Roztoczyńska, Aleksander Konturek, Anna Wędrychowicz, Magdalena Ossowska, Alicja Kapusta, Anna Taczanowska-Niemczuk, Jerzy B Starzyk
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引用次数: 0

摘要

原发性甲状旁腺功能亢进(PHPT)在儿童中很少见,但表现出比成人更动态的过程,如果诊断延迟,通常会导致多器官并发症。本文旨在强调儿童甲状旁腺瘤的诊断挑战,并讨论延迟诊断的相关并发症。对3名年龄分别为15.5岁、10岁和16岁的男孩进行高钙血症回顾性分析。诊断是基于生化和激素测试,以及成像研究(超声、闪烁成像和密度测定)。平均诊断延迟20个月(9-35)。所有男孩都出现了食欲不振和骨骼症状。患者1最初被误诊为股骨头骨骺滑动(SCFE),在没有意识到严重高钙血症的情况下进行了骨科手术。患者2在胫骨骨折后被误诊为抗利尿激素缺乏。三号病人的症状是由于压力所致。所有患者均有甲状旁腺瘤,但患者2和3有异位胸腺。腺瘤切除后,患者2和3出现低钙血症,其持久后果包括肾钙沉着症和低骨量;患者3也出现高血压和抑郁症。结论:(1)任何出现食欲不振、腹痛、体重减轻、抑郁或骨骼异常等症状的儿童都必须紧急评估血清钙水平,以排除PHPT。(2)儿童PHPT的延迟诊断是危险的,因为它会导致不可逆的器官损害,包括严重的骨质流失、肾钙质沉着症和高血压。(3)术前全面的激素和遗传学评估是必要的,同时及时纠正低钙血症,以减少并发症,提高治疗效果。(4)甲状旁腺瘤切除后,需要大量补充钙和维生素D,以预防饥饿骨综合征,支持骨的正常恢复。(5)由于PHPT患儿的疾病复发风险较大,需要长期的内分泌随访和彻底的基因检测,以便及早发现复发,及时干预。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Long-Term Consequences of Misdiagnosis of Parathyroid Adenomas in Pediatric Patients.

Long-Term Consequences of Misdiagnosis of Parathyroid Adenomas in Pediatric Patients.

Long-Term Consequences of Misdiagnosis of Parathyroid Adenomas in Pediatric Patients.

Long-Term Consequences of Misdiagnosis of Parathyroid Adenomas in Pediatric Patients.

Primary hyperparathyroidism (PHPT) is rare in children but exhibits a more dynamic course than in adults, often leading to multiorgan complications if diagnosis is delayed. This article aims to highlight diagnostic challenges of parathyroid adenomas in children and discuss associated complications from delayed diagnosis. Three boys, aged 15.5, 10, and 16 years, were retrospectively analyzed for hypercalcemia. The diagnosis was based on biochemical and hormonal tests, as well as imaging studies (ultrasound, scintigraphy, and densitometry). The mean diagnosis delay was 20 months (9-35). All boys experienced appetite loss and bone symptoms. Patient 1 was initially misdiagnosed with slipped capital femoral epiphysis (SCFE) and underwent orthopedic surgery without recognition of severe hypercalcemia. Patient 2 was misdiagnosed with vasopressin deficiency following a tibia fracture. Patient 3's symptoms were attributed to stress. All patients had parathyroid adenomas, but Patients 2 and 3 had an ectopic thymus location. Following adenoma excision, Patients 2 and 3 developed hypocalcemia, the lasting consequences of which included nephrocalcinosis and low bone mass; Patient 3 also developed hypertension and depression. Conclusions: (1) any child presenting symptoms such as loss of appetite, abdominal pain, weight loss, depression, or bone abnormalities must urgently have serum calcium levels assessed to exclude PHPT. (2) Delayed diagnosis of PHPT in children is dangerous, as it leads to irreversible organ damage, including severe bone loss, nephrocalcinosis, and hypertension. (3) Comprehensive hormonal and genetic evaluation prior to surgery is essential, along with prompt correction of hypocalcemia to minimize complications and improve treatment outcomes. (4) After parathyroid adenoma removal, intensive calcium and vitamin D supplementation is required to prevent hungry bone syndrome and support proper bone recovery. (5) Due to the significant risk of disease recurrence, children with PHPT require long-term endocrine follow-up and thorough genetic testing, enabling early detection of relapse and timely intervention.

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