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甲状旁腺功能亢进颌骨肿瘤综合征,一种意想不到的诊断。

Hyperparathyroidism Jaw Tumor Syndrome, an Unforeseen Diagnosis.

作者信息

Zama Asande, Kruger Elsie C, Zemlin Annalise E, Conradie Magda

机构信息

Division of Chemical Pathology, National Health Laboratory Service, Tygerberg Hospital, Cape Town 7505, South Africa.

Division of Chemical Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town 7505, South Africa.

出版信息

JCEM Case Rep. 2024 Mar 4;2(3):luae020. doi: 10.1210/jcemcr/luae020. eCollection 2024 Mar.

Abstract

Asymptomatic primary hyperparathyroidism (PHPT) is often missed in developing nations due to limited formal healthcare exposure and biochemical screening programs. Many patients are thus only diagnosed once symptomatic. We present a 32-year-old female who developed bony protrusions in her jaw during pregnancy, resulting in a stillbirth. Three months later, during a dental consultation for worsening toothache, jaw abnormalities were detected. Radiological studies revealed bilateral mandibular radiolucent lesions, and bone biopsy confirmed histological features consistent with a brown tumor. These findings raised concerns about underlying PHPT, which was confirmed with a markedly elevated parathyroid hormone level in the presence of significant hypercalcemia. Further examination revealed impaired renal function, normal urine calcium excretion, and bilateral nephrocalcinosis. Low bone mineral density was measured with dual-energy X-ray absorptiometry, and conventional radiology identified additional low-density bony lesions in keeping with brown tumors. A parathyroid MIBI confirmed the presence of a singular parathyroid adenoma. A vague but possible family history, the patient's young age, and the severe renal and skeletal involvement prompted genetic testing. A cell division cycle 73 () pathogenic variant, in keeping with primary hyperparathyroidism jaw tumor syndrome, was identified.

摘要

由于正规医疗接触和生化筛查项目有限,无症状原发性甲状旁腺功能亢进症(PHPT)在发展中国家常常被漏诊。因此,许多患者直到出现症状才被诊断出来。我们报告一名32岁女性,她在怀孕期间下颌出现骨质突出,导致死产。三个月后,在因牙痛加剧进行牙科咨询时,发现了下颌异常。放射学研究显示双侧下颌放射性透亮病变,骨活检证实组织学特征与棕色瘤一致。这些发现引发了对潜在PHPT的担忧,在存在明显高钙血症的情况下,甲状旁腺激素水平显著升高证实了这一点。进一步检查发现肾功能受损、尿钙排泄正常以及双侧肾钙质沉着症。通过双能X线吸收法测量发现骨密度低,传统放射学检查发现了与棕色瘤相符的其他低密度骨病变。甲状旁腺MIBI证实存在单个甲状旁腺腺瘤。模糊但可能存在的家族病史、患者的年轻年龄以及严重的肾脏和骨骼受累促使进行基因检测。发现了一个与原发性甲状旁腺功能亢进症颌骨肿瘤综合征相符致病的细胞分裂周期73()变异。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/97ee/10911221/24d572926990/luae020f1.jpg

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