合并维生素D缺乏儿童原发性甲状旁腺功能亢进症一例循证病例报告

摘要

Primary hyperparathyroidism (PHPT) in children is a rare condition,co-existing with vitamin D deficiency can lead to more diagnostic uncertainty.Here we report a case of a boy with PHPT complicated with vitamin D deficient rickets.The diagnosis and treatment of this patient was analyzed against literature review to summarize evidence-based clinical features of PHPT in children.We found that compared with adult PHPT,PHPT in children is associated with severer symptoms,higher serum calcium level,lower parathyroid hormone,preponderance of single adenoma in pathology,and higher cure rate of surgery.Co-existence of osteomalacia may induce reduction of the serum calcium level to the normal range,but cause more severe bone lesions.%儿童原发性甲状旁腺功能亢进症为罕见疾病,合并维生素D缺乏时更增加了诊治难度.本文结合国内外相关文献检索和复习,总结基于循证的临床特点,报告1例以维生素D缺乏性佝偻病表现就诊的原发性甲状旁腺功能亢进症男童,发现儿童甲状旁腺功能亢进症症状比成人严重,血钙水平更高,甲状旁腺激素偏低,病理与成人相似,以单个腺瘤最多,手术治愈率高.合并骨软化时可使血钙降至正常范围,但临床表现骨骼病变更严重.