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一例由外源性骨化三醇介导的表现为高钙血症的人为障碍罕见病例。

An Unusual Case of Factitious Disorder Manifesting as Hypercalcemia Mediated by Exogenous Calcitriol.

作者信息

Godasi Bramara N, Schade David S

机构信息

Department of Endocrinology and Metabolism, University of New Mexico Health Sciences, Albuquerque, NM 87131, USA.

出版信息

JCEM Case Rep. 2025 Mar 19;3(4):luaf050. doi: 10.1210/jcemcr/luaf050. eCollection 2025 Apr.

DOI:10.1210/jcemcr/luaf050
PMID:40110571
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11920696/
Abstract

Excessive 1, 25-dihydroxy vitamin D (calcitriol) is a pathophysiological cause of hypercalcemia. This form of hypercalcemia is seen in autoimmune conditions, fungal infections, lymphoma, and rare genetic diseases. A factious disorder manifesting as intentional ingestion of calcitriol leading to hypercalcemia has not been previously reported. We report a case of a female in the fourth decade with recurrent episodes of hypercalcemia seen at multiple clinics across the United States over a period of 20 years. Several extensive medical workups were unable to identify a specific cause of her non-PTH mediated hypercalcemia. We used a novel approach to determine that her hypercalcemia was secondary to exogenous calcitriol administration. When the patient realized that the etiology had been identified, she refused all further contact with the physician. It is not uncommon for patients with a factitious disorder to deny self-inflicting behavior or to seek care somewhere else. Ingestion of calcitriol should be considered when the etiology of recurrent hypercalcemia cannot be identified by traditional medical testing.

摘要

过量的1,25 - 二羟维生素D(骨化三醇)是高钙血症的病理生理原因。这种形式的高钙血症见于自身免疫性疾病、真菌感染、淋巴瘤和罕见的遗传疾病。此前尚未报道过一种伪装成故意摄入骨化三醇导致高钙血症的做作性障碍。我们报告一例40岁左右的女性病例,在20年的时间里,她在美国多家诊所反复出现高钙血症发作。多次广泛的医学检查未能确定她非甲状旁腺激素介导的高钙血症的具体病因。我们采用了一种新颖的方法来确定她的高钙血症是外源性骨化三醇给药所致。当患者意识到病因已被查明时,她拒绝与医生再有任何联系。做作性障碍患者否认自我伤害行为或去其他地方寻求治疗的情况并不少见。当传统医学检测无法确定反复性高钙血症的病因时,应考虑骨化三醇摄入的可能性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8b1/11920696/66e5fe9bb12b/luaf050f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8b1/11920696/66e5fe9bb12b/luaf050f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8b1/11920696/66e5fe9bb12b/luaf050f1.jpg

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本文引用的文献

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Severe Hypercalcemia due to Hypervitaminosis D in a Breastfed Infant.母乳喂养婴儿维生素D过多症导致的严重高钙血症
JCEM Case Rep. 2023 May 17;1(3):luad049. doi: 10.1210/jcemcr/luad049. eCollection 2023 May.
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Rare Causes of Hypercalcemia: 2021 Update.高钙血症的罕见病因:2021 年更新版。
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CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype.CYP24A1 和 SLC34A1 基因缺陷与特发性婴儿高钙血症相关:从基因型到表型。
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Factitious Cushing's Syndrome: A Diagnosis to Consider When Evaluating Hypercortisolism.假性库欣综合征:评估皮质醇增多症时需考虑的一种诊断。
Front Endocrinol (Lausanne). 2019 Mar 4;10:129. doi: 10.3389/fendo.2019.00129. eCollection 2019.
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