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棕色瘤:现实环境中原发性和肾性甲状旁腺功能亢进的隐匿面貌。

Brown Tumors: The Hidden Face of Primary and Renal Hyperparathyroidism Amid Real-Life Settings.

作者信息

Carsote Mara, Ciobica Mihai-Lucian, Sima Oana-Claudia, Valea Ana, Bondor Cosmina Ioana, Geleriu Andreea, Ticolea Madalina, Nistor Claudiu, Rusu Crina Claudia

机构信息

Department of Endocrinology, "Carol Davila" University of Medicine and Pharmacy, 050474 Bucharest, Romania.

Department of Clinical Endocrinology V, C.I. Parhon National Institute of Endocrinology, 011863 Bucharest, Romania.

出版信息

J Clin Med. 2024 Jun 29;13(13):3847. doi: 10.3390/jcm13133847.

Abstract

Brown tumors, an exceptional bone complication of severe primary (PHP) or renal (secondary) hyperparathyroidism (RHP), are caused by long-standing, elevated parathormone (PTH)-induced osteoclast activation causing multinucleated giant cell conglomerates with hemosiderin deposits in addition to the local production of cytokines and growth factors. We aim to present an adult case series including two females displaying this complication as part of a multidisciplinary complex panel in high PTH-related ailments. The approach was different since they had distinct medical backgrounds and posed a wide area of challenges amid real-life settings, namely, a 38-year-old lady with PHP and long-term uncontrolled hypercalcemia (with a history of pregnancy-associated PHP, the removal of a cystic jaw tumor, as well as a family and personal positive diagnosis of polycystic kidney disease, probably a PHP-jaw tumor syndrome), as well as, a 26-year-old woman with congenital single kidney and chronic renal disease-associated RHP who was poorly controlled under dialysis and developed severe anemia and episodes of metabolic acidosis (including one presentation that required emergency hemodialysis and was complicated with convulsive seizures, followed by resuscitated respiratory arrest). Both subjects displayed a severe picture of PHP/RHP with PTH levels of >1000 pg/mL and >2000 pg/mL and elevated serum bone turnover markers. Additionally, they had multiple brown tumors at the level of the ribs and pelvis (asymptomatically) and the spine, skull, and pelvis (complicated with a spontaneous cervical fracture). As an endocrine approach, the control of the underlying parathyroid disease was provided via surgery in PHP (for the postparathyroidectomy hungry bone syndrome) via medical intervention (with vitamin D analogs) in RHP. Additionally, in this case, since the diagnosis was not clear, a multidisciplinary decision to perform a biopsy was taken (which proved inconclusive), and the resection of the skull tumor to confirm the histological traits. This series highlights the importance of addressing the entire multidisciplinary panel of co-morbidities for a better outcome in patients with PHP/RHP-related brown tumors. However, in the instance of real-life medicine, poor compliance and reduced adherence to recommendations might impair the overall health status. Thus, sometimes, a direct approach at the level of cystic lesion is taken into consideration; this stands for a narrow frame of decision, and it is a matter of personalized decision. As seen here, brown tumors represent the hidden face of PHP/RHP, primarily the complex and severe forms, and awareness is essential even in the modern era.

摘要

棕色瘤是严重原发性(PHP)或肾性(继发性)甲状旁腺功能亢进症(RHP)罕见的骨骼并发症,由长期升高的甲状旁腺激素(PTH)诱导破骨细胞活化所致,可导致多核巨细胞聚集并伴有含铁血黄素沉积,同时局部还会产生细胞因子和生长因子。我们旨在呈现一个成人病例系列,其中包括两名女性,她们表现出这种并发症,作为高PTH相关疾病多学科综合诊疗小组的一部分。由于她们有着不同的医学背景,且在现实生活场景中带来了广泛的挑战,因此诊疗方法有所不同。具体来说,一名38岁患有PHP且长期高钙血症未得到控制的女性(有妊娠相关PHP病史、颌骨囊性肿瘤切除史,以及家族和个人多囊肾病阳性诊断,可能为PHP-颌骨肿瘤综合征),还有一名26岁患有先天性单肾和慢性肾病相关RHP的女性,她在透析治疗下控制不佳,出现了严重贫血和代谢性酸中毒发作(包括一次需要紧急血液透析且并发惊厥发作、随后出现复苏后呼吸骤停的情况)。两名患者均表现出严重的PHP/RHP症状,PTH水平分别>1000 pg/mL和>2000 pg/mL,血清骨转换标志物升高。此外,她们在肋骨和骨盆部位(无症状)以及脊柱、颅骨和骨盆部位(并发自发性颈椎骨折)有多个棕色瘤。作为一种内分泌治疗方法,对于PHP患者通过手术控制潜在的甲状旁腺疾病(针对甲状旁腺切除术后饥饿骨综合征),对于RHP患者则通过药物干预(使用维生素D类似物)。此外,在本病例中,由于诊断不明确,做出了多学科决定进行活检(结果未得出结论),并切除颅骨肿瘤以确认组织学特征。本病例系列强调了应对PHP/RHP相关棕色瘤患者所有共病的多学科综合诊疗小组对于取得更好治疗效果的重要性。然而,在现实医疗中,依从性差和对建议的遵循度降低可能会损害整体健康状况。因此,有时会考虑对囊性病变采取直接治疗方法;这代表了一个狭窄的决策框架,是一个个性化决策的问题。如此处所见,棕色瘤代表了PHP/RHP的隐匿面,主要是复杂和严重的形式,即使在现代,提高认识也至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/665c/11242279/60ed156183f3/jcm-13-03847-g001a.jpg

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