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自身免疫多发性内分泌腺病综合征Ⅰ型的相关研究阐述 被引量:2

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摘要 自身免疫多发性内分泌腺病综合征(APS)是2个及以上内分泌腺出现功能障碍,因免疫耐受不良导致多种内分泌腺功能受损,多数患者表现为机体内分泌功能减退,少数表现为内分泌功能亢进。本文就APSⅠ型的流行病学、发病机制、临床表现及治疗做一综述。
出处 《临床合理用药杂志》 2019年第6期178-179,共2页 Chinese Journal of Clinical Rational Drug Use
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  • 1Hidekatsu Yanai,Seiko Okamoto,Junwa Kunimatsu.Autoimmune polyglandular syndrome type 3 complicated by mineralocorticoid-responsive hyponatremia of the elderly[J].World Journal of Diabetes,2010,1(4):135-136. 被引量:2
  • 2Neufeld M, Maclaren NK, Blizzard RM. Two types of autoimmune Addison ' s disease associated with different polyglandular autoimmune (PGA) syndromes. Medicine, 1981, 60:355-362.
  • 3Nagamine K, Peterson P, Scott HS, et al. Positional cloning of theAPECEDgene. Nat Genet, 1997, 17: 393-398.
  • 4Ishii T, Suzuki Y, Ando N, et al. Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy eandidiasis-ectodermal dystrophy. J Clin Endocrinol Metab, 2000, 85: 2922 -2926.
  • 5Sato K, Nakajima K, Imamura H, et al. A novel missense mutation of 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. Endocr J, 2002, 49: 625-633.
  • 6Kogawa 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. Clin Immunol, 2002, 103: 277-283.
  • 7Sato U, Horikawa R, Katsumata N, et al. Novel compound heterozygous AIRE mutations in a Japanese patient with APECED. J Pediatr Endocrinol Metab, 2004, 17:917-921.
  • 8Wolff AS, Erichsen MM, Meager A, et al. Autoimmune polyendocrine syndrome type 1 in Norway: phenotypie variation, autoantibodies, and novel mutations in the autoimmune regulator gene. J Clin Endocrinol Metab, 2007, 92: 595 -603.
  • 9史长宏 廖培元.自身免疫多腺体综合征Ⅰ型1例[J].中国实用儿科杂志,2000,15:326-326.
  • 10Bjorses P, Halonen M, Palvimo JJ, et al. Mutations in the AIRE gene: effects on subcellular location and transaetivation function of the autoimmune polyendoerinopathy-eandidiasis- ectodermal dystrophy protein. Am J Hum Genet, 2000, 66 : 378- 392.

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