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自身免疫性多内分泌腺病综合征二例并文献复习 被引量：4

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摘要 目的探讨自身免疫性多内分泌腺病综合征(autoimmune polyendocrinopathy syndrome,APS)的诊断要点及治疗原则。方法对我院收治的APS 2例的临床资料进行回顾性分析,并复习相关文献。结果 2例发病年龄小,起病隐匿,多器官受累,受累内分泌腺自身抗体阳性,功能低下者予激素替代治疗,反之抑制靶腺激素分泌,尽量使激素水平正常,治疗后患者日常生活均可自理。结论 APS以自身免疫破坏所致腺体功能减退为主,提示临床凡遇到2个或以上腺体功能减退者,需警惕该病,可评估腺体功能并行相关免疫指标检测,以尽早明确诊断。
作者 张志华 母义明 汪寅章 窦京涛 巴建明 吕朝辉 欧阳金枝 杜锦
机构地区 解放军 解放军总医院内分泌科
出处 《临床误诊误治》 2012年第6期23-25,共3页 Clinical Misdiagnosis & Mistherapy
关键词 多内分泌腺疾病 自身免疫性 腺体功能 免疫测定
分类号 R593.2 [医药卫生—内科学]
  • 相关文献

参考文献12

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  • 3赵彦.儿童自身免疫性多内分泌腺病综合征7例[J].广东医学,2011,32(12):1635-1635. 被引量：4
  • 4邵琦,任颖.自身免疫多内分泌腺病综合征与成人隐匿性自身免疫性糖尿病[J].上海交通大学学报（医学版）,2007,27(7):891-893. 被引量：1
  • 5Sato K, Nakajima K, Imamura H, et al. A novel missense mutation of AIRE gene in a patient with autoimmune poly- endocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atro- phy : case report and review of the literature in Japan [ J ]. Endocr J, 2002,49 ( 6 ) : 625-633.
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二级参考文献41

  • 1周智广.LADA研究之路何在?[J].中华内分泌代谢杂志,2005,21(4):301-303. 被引量：13
  • 2项坤三.糖尿病的病因异质性及分型[J].中华内分泌代谢杂志,2005,21(4):397-401. 被引量：21
  • 3Wolff AS, Erichen MM, Meager A, et al. Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene [J]. Clin Endocrinol Metab, 2007,92(2):595-603.
  • 4Pearce SH, Cheetham T, Imrie H, et al. A Common and Recurrent 13bp deletion in the autoimmune regulator gene in British Kindreds with autoimmune polyendocrinopathy type 1 [J]. Am J Hum Genet,1998,63 (6): 1675-1684.
  • 5Ward L, Paquette J, Seidman E, et al. Severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: response to immunosuppressive therapy [J]. Clin Endocrinol Metab,1999,84(3):833-852.
  • 6Bjorses P, Halonen M, Palvimo JJ, et al. Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy [J]. Clin Endocrinol Metab,2000,85 (8):2922-2926.
  • 7Sato K, Nakajima K, Imamura H, et al. A novel missense mutation oi AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan [J]. Endocrine Journal,2002,49(6):625-633.
  • 8Kogawa K, Kudoh J, Nagafuchi S, et al. Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations [J]. Clin Immunol,2002,103(3):277-283.
  • 9Harris M, Kecha O, Deal C, et al. Reversible metaphyseal dysplasia, a novel bone phenotype, in two unrelated children with autoimmune polyendocrinopathy~andidiasis-ectodermal dystrophy:, clinical and molecularstudies[J].Clin Endocrinol Metab,2003,88(10):4576-4585.
  • 10Sato U, Horikawa R, Katsumata N, et al. Novel compound heterozygous AIRE mutations in a Japanese patient with APECED[J]. Pediatr Endocrinol Met ab,2004,17(6):917-921.

共引文献17

同被引文献27

引证文献4

二级引证文献9

临床误诊误治
2012年 第6期

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