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甲状腺髓样癌、多发性嗜铬细胞瘤、黏膜神经瘤、类马方体型及其他异常(西普尔综合征)。

Medullary carcinoma of the thyroid, multiple phaeochromocytomas, mucosal neuromas, marfanoid habitus and other abnormalities (Sipple's syndrome).

作者信息

Bartley P C, Lloyd H M, Aitken R E

出版信息

Med J Aust. 1976 Jul 31;2(5):173-6. doi: 10.5694/j.1326-5377.1976.tb134453.x.

Abstract

A case of Sipple's syndrome is reported, in which the full phenotype was expressed. The patient had the typical marfanoid habitus, with thickened lips and alae nasi, neuromas on lips and tongue, medullary carcinoma of the thyroid gland, phaeochromocytomas, and medullated corneal nerve fibres. The plasma calcitonin level was initially elevated, rose on calcium infusion before thyroidectomy, and was undetectably after thyroidectomy. The urinary catecholamine excretion was elevated. The plasma parathyroid hormone, adrenocorticotrophin and growth hormone levels and the serum calcium level were normal.

摘要

报告了一例表达出完整表型的西普尔综合征病例。患者具有典型的马方样体型,嘴唇和鼻翼增厚,嘴唇和舌部有神经瘤,甲状腺髓样癌,嗜铬细胞瘤,以及有髓鞘的角膜神经纤维。血浆降钙素水平最初升高,在甲状腺切除术前静脉输注钙剂时升高,而在甲状腺切除术后检测不到。尿儿茶酚胺排泄量升高。血浆甲状旁腺激素、促肾上腺皮质激素和生长激素水平以及血清钙水平均正常。

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