医学
门1
肾钙质沉着症
恶性肿瘤
甲状旁腺功能亢进
原发性甲状旁腺功能亢进
西那卡塞特
甲状旁腺
纵隔
甲状旁腺腺瘤
甲状旁腺切除术
内科学
继发性甲状旁腺功能亢进
病理
内分泌学
甲状旁腺激素
外科
钙
内分泌系统
激素
肾
作者
Giulia Sapuppo,Maria Ausilia Giusti,Demetrio Aricò,Romilda Masucci,Martina Tavarelli,Marco Russo,Gabriella Pellegriti
标识
DOI:10.3389/fendo.2023.1108278
摘要
Parathyromatosis is a rare cause of primitive hyperparathyroidism characterized by the presence of numerous parathyroid tissue foci in the neck/mediastinum, due to hyperplasia of parathyroid embryologic residues (primary-form) or to local parathyroid tissue implantation (secondary-form). 63 cases have been described in the literature. In our patient parathyromatosis was due to a combination of two mutations.A 36-years-old woman was diagnosed with osteoporosis secondary to primary hyperparathyroidism. Subsequent right parathyroidectomy showed a parathyroid adenoma. The follow-up was negative but after 10 years she had a relapse. The genetic screening showed a rare intronic mutation of the MEN1 gene and a heterozygous mutation never described in exon 8 of the CASR gene, coding for the calcium receptor. Calcemia and PTH increased over the years with the onset of nephrocalcinosis and the worsening of osteoporosis despite the therapy with Cinacalcet, bisphosphonates and Vitamin D. She had therefore two additional surgical procedures (parathyroid tissue without malignancy). At follow-up she showed elevated levels of PTH (>1000 pg/ml) and calcium (11.2 mg/dl) and CT scans multiple subcentimetric nodules in the neck/upper mediastinum. Since the 68Ga-DOTATATE showed an increased uptake in the neck/mediastinum, lanreotide was added. After two months there was a significant biochemical response but, unfortunately, after six months, the patient showed a new worsening.a rare case of parathyromatosis due to a combination of two genetic alterations never described. The main issues concern the diagnosis and the radical treatment. Somatostatin analogues may have a useful role in both diagnosis and therapy.
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