Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome
Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome
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DOI：
10.1530/eje-10-1206
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发表时间：
2011-08-01
影响因子：
5.8
通讯作者：
Folling, Ivar
中科院分区：
文献类型：
--
作者：
Lima, Kari;Abrahamsen, Tore G.;Folling, Ivar
目的：描述22q11.2缺失综合征患者的内分泌和自身免疫紊乱，重点是甲状旁腺功能障碍（22q11.2 DS）设计：在这项全国性调查中，59名患者通过挪威的所有遗传研究所招募了86名22q11.2 DS的受试者（年龄1-54岁）。数据收集来自血液测试，医疗记录，体格检查和半结构化访谈。我们登记的自身免疫性疾病和测量自身抗体，激素水平和HLA type.Results：28例（47%）患者有甲状旁腺功能减退症或新生儿或短暂性低钙血症的历史。新生儿低钙血症15例。14例患者有永久性甲状旁腺功能减退，其中7例（54%）年龄在15岁以上。新生儿低钙血症史不能预测以后发生甲状旁腺功能减退。甲状旁腺激素水平普遍较低，表明储备能力较低。28例患者自身抗体阳性。6例（10%）患者发生自身免疫性疾病，均为女性（P
Objective: To characterize the endocrine and autoimmune disturbances with emphasis on parathyroid dysfunction in patients with 22q11.2 deletion syndrome (22q11.2 DS).Design: In this nationwide survey; 59 patients (age 1-54 years) out of 86 invited with a 22q11.2 DS were recruited through all the genetic institutes in Norway.Methods: Data was collected from blood tests, medical records, a physical examination and a semi-structured interview. We registered autoimmune diseases and measured autoantibodies, hormone levels and HLA types.Results: Twenty-eight (47%) patients had hypoparathyroidism or a history of neonatal or transient hypocalcemia. Fifteen patients had neonatal hypocalcemia. Fourteen patients had permanent hypoparathyroidism including seven (54%) of those above age 15 years. A history of neonatal hypocalcemia did not predict later occurring hypoparathyroidism. Parathyroid hormone levels were generally low indicating a low reserve capacity. Twenty-eight patients were positive for autoantibodies. Six (10%) persons had developed an autoimmune disease, and all were females (P