Université de Paris-APHP.Centre, Service de Rhumatologie, Hôpital Cochin, Centre de Référence des Maladies Rares du Métabolisme Phospho-calcique, Paris, France.
INSERM UMR 1163, Imagine Institute, Paris, France.
Osteoporos Int. 2024 Jan;35(1):195-199. doi: 10.1007/s00198-023-06878-5. Epub 2023 Aug 29.
Bone lytic lesions are a possible complication of pseudohypoparathyroidism type 1B, in undertreated adult patients. Whole body [18F] F-fluorocholine PET/CT is a useful imaging tool to assess brown tumor progression in this context. We describe the case of a 33-year-old woman, referred for the diagnostic evaluation of lytic bone lesions of the lower limbs, in the context of asymptomatic pseudohypoparathyroidism. She had been treated with alfacalcidol and calcium during her childhood. Treatment was discontinued at the age of 18 years old because of the lack of symptoms. A femur biopsy revealed a lesion rich in giant cells, without malignancy, consistent with a brown tumor. Laboratory tests showed a parathyroid level at 1387 pg/ml (14-50). Whole-body Fluorocholine PET/CT revealed hypermetabolism of bone lesions. The final diagnosis was brown tumors related to hyperparathyroidism complicating an untreated pseudohypoparathyroidism. Genetic testing confirmed PHP type 1B. Pseudohypoparathyroidism with radiographic evidence of hyperparathyroid bone disease, is a very rare condition due to parathyroid hormone resistance in target organs, i.e., kidney resistance, but with conserved bone cell sensitivity. It has been reported in only a few cases of pseudohypoparathyroidism type Ib. Long-term vitamin D treatment was required to correct bone hyperparathyroidism. With this rationale, the patient was treated with calcium, alfacalcidol, and cholecalciferol. One-year follow-up showed complete resolution of pain, improvement in serum calcium, and regression of bone lesions on [18F]F-fluorocholine PET/CT. This case illustrates the usefulness of [18F]F-fluorocholine PET/CT for the imaging of brown tumors in pseudohypoparathyroidism type 1B, and emphasizes the importance of calcium and vitamin D treatment in adult patients, to avoid the deleterious effects of high parathyroid hormone on skeletal integrity.
骨溶骨性病变是 1B 型假性甲状旁腺功能减退症未治疗的成年患者的一种可能并发症。全身 [18F]F-氟胆碱 PET/CT 是评估这种情况下棕色肿瘤进展的有用成像工具。我们描述了一名 33 岁女性的病例，她因下肢溶骨性骨病变就诊，伴有无症状假性甲状旁腺功能减退症。她在儿童时期接受了阿尔法骨化醇和钙的治疗。由于没有症状，她在 18 岁时停止了治疗。股骨活检显示病变富含巨细胞，但无恶性，符合棕色肿瘤。实验室检查显示甲状旁腺水平为 1387pg/ml（14-50）。全身氟胆碱 PET/CT 显示骨病变代谢活跃。最终诊断为与未治疗的假性甲状旁腺功能减退症相关的棕色肿瘤，并发甲状旁腺功能亢进症。基因检测证实为 1B 型 PHP。假性甲状旁腺功能减退症伴放射性证据表明甲状旁腺骨病是一种非常罕见的疾病，由于靶器官（即肾脏）对甲状旁腺激素的抵抗，但骨细胞敏感性保留，导致甲状旁腺激素抵抗。仅在少数 1B 型假性甲状旁腺功能减退症病例中报道过。需要长期维生素 D 治疗来纠正骨高甲状旁腺素血症。基于这一原理，对患者进行了钙、阿尔法骨化醇和胆钙化醇治疗。一年的随访显示疼痛完全缓解，血清钙改善，[18F]F-氟胆碱 PET/CT 上骨病变消退。该病例说明了 [18F]F-氟胆碱 PET/CT 在 1B 型假性甲状旁腺功能减退症棕色肿瘤成像中的作用，强调了在成年患者中进行钙和维生素 D 治疗的重要性，以避免高甲状旁腺激素对骨骼完整性的有害影响。
