自身免疫性多发内分泌腺病综合征1型1例

doi:10.11852/zgetbjzz2024-1394

中国儿童保健杂志 ›› 2025, Vol. 33 ›› Issue (12): 1397-1400.DOI: 10.11852/zgetbjzz2024-1394

• 个案报道 • 上一篇

自身免疫性多发内分泌腺病综合征1型1例

迪拉热依·达吾列提汉, 罗燕飞, 玛依拉·阿不都热依木, 米热古丽·买买提

新疆医科大学第一附属医院儿内四科,新疆乌鲁木齐 830054

收稿日期:2024-11-19 修回日期:2025-04-03 发布日期:2025-12-02 出版日期:2025-12-10
通讯作者: 米热古丽·买买提,E-mail:milikita17@aliyun.com
作者简介:迪拉热依·达吾列提汉(1999—),女,硕士学位,主要研究方向为儿童内分泌、遗传代谢病。
基金资助:
卫生健康发展促进项目-生长激素生物活性检测支持科研项目(KM-SZJS-01)

A case of autoimmune polyendocrine syndrome type 1

Dilareyi·Dawulietihan¹, Luo Yanfei¹, Mayila·Abudureyimu¹, Mireguli·Maimaiti¹

Received:2024-11-19 Revised:2025-04-03 Online:2025-12-10 Published:2025-12-02

摘要/Abstract

关键词: AIRE基因, 自身免疫性多发内分泌腺病综合征1型, 自身免疫性多内分泌病-念珠菌病-外胚层营养不良

中图分类号:

R179

迪拉热依·达吾列提汉, 罗燕飞, 玛依拉·阿不都热依木, 米热古丽·买买提. 自身免疫性多发内分泌腺病综合征1型1例[J]. 中国儿童保健杂志, 2025, 33(12): 1397-1400.

Dilareyi·Dawulietihan, Luo Yanfei, Mayila·Abudureyimu, Mireguli·Maimaiti. A case of autoimmune polyendocrine syndrome type 1[J]. Chinese Journal of Child Health Care, 2025, 33(12): 1397-1400.

[1] Bruserud Ø, Oftedal BE, Landegren N, et al. A longitudinal follow-up of autoimmune polyendocrine syndrome type 1[J]. J Clin Endocrinol Metab, 2016, 101(8):2975-2983.
[2] Kahaly GJ, Frommer L. Autoimmune polyglandular diseases[J]. Best Pract Res Clin Endocrinol Metab, 2019, 33(6):101344.
[3] Fierabracci A. Type 1 diabetes in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED): A "rare" manifestation in a "rare" disease[J]. Int J Mol Sci, 2016, 17(7):1106.
[4] Wu H, Mo Y, Yu S, et al. Novel homozygous mutations in AIRE leading to APS-1 and potential mechanisms based on bioinformatics analysis[J]. Heliyon, 2024, 10(6):e28037.
[5] 金雨, 杨涛. 自身免疫性多发性内分泌腺病综合征[J]. 内科急危重症杂志, 2015, 21(4):259-262.
Jin Y, Yang T. Autoimmune multiple endocrinopathies syndrome[J]. Journal of Acute and Critical Medicine, 2015, 21(4):259-262.(in Chinese)
[6] Brad GF, Nicoarǎ DM, Scutca AC, et al. Exploring chronic hypocalcemia: Insights into autoimmune polyglandular syndrome type 1—a case study and literature review[J]. J Clin Med, 2024, 13(8):2368.
[7] Cutolo M. Autoimmune polyendocrine syndromes[J]. Autoimmun Rev, 2014, 13(2):85-89.
[8] Philippot Q, Casanova J-L, Puel A. Candidiasis in patients with APS-1: Low IL-17, high IFN-γ, or both?[J]. Curr Opin Immunol, 2021, 72:318-323.
[9] Guo C-J, Leung PSC, Zhang W, et al. The immunobiology and clinical features of type 1 autoimmune polyglandular syndrome (APS-1)[J]. Autoimmun Rev, 2018, 17(1):78-85.
[10] Yukina M, Erofeeva T, Nurana N, et al. Novel gene mutations regulating immune responses in autoimmune polyglandular syndrome with an atypical course[J]. J Endocr Soc, 2021, 5(8):bvab077.
[11] YHH ek E, Simsek T, Cilingir O. Early-onset chronic keratitis as the first presenting component of autoimmune polyendocrinopathy syndrome type 1 (APS-1): A case report and review of the literature[J]. J Clin Res Pediatr Endocrinol, 2023,17(3):359-364.
[12] Stolarski B, Pronicka E, Korniszewski L, et al. Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: Novel AIRE mutations and an estimate of disease prevalence[J]. Clin Genet, 2006, 70(4):348-354.
[13] Fierabracci A, Lanzillotta M, Vorgučin I, et al. Report of two siblings with APECED in Serbia: Is there a founder effect of c.769C>T AIRE genotype?[J]. Ital J Pediatr, 2021, 47(1):126.
[14] 孙永香,何亚非,栗夏连.1例自身免疫性多内分泌腺病综合征Ⅰ型患者的临床及家系AIRE基因突变分析[J].中国当代儿科杂志,2016,18(2):147-151.
Sun YX, He YF, Li XL. Clinical and familial analysis of AIRE gene mutation in a patient with autoimmune polyendocrine syndrome type Ⅰ[J].Chin J Contemp Pediatr, 2016,18(2):147-151.(in Chinese)
[15] Bjørklund G, Pivin M, Hangan T, et al. Autoimmune polyendocrine syndrome type 1: Clinical manifestations, pathogenetic features, and management approach[J]. Autoimmun Rev, 2022, 21(8):103135.
[16] Radetti G, Puel A, Franceschi R, et al. A non-classical presentation of APECED in a family with heterozygous R203X AIRE gene mutation[J]. J Endocrinol Invest, 2022, 46(3):629-632.
[17] Kisand K, Peterson P. Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy[J]. J Clin Immunol, 2015, 35(5):463-478.
[18] 郑粼琳, 刘毅. 自身免疫多内分泌腺病综合征研究进展[J]. 临床误诊误治, 2019, 32(12):103-108.
Zheng LL, Liu YI. Research progress of autoimmune polyendocrine syndrome[J]. Clinical misdiagnosis and mistreatment, 2019, 32(12):103-108. (in Chinese)
[19] Tenório JR, Tuma MM, Andrade NS, et al. Oral manifestations of autoimmune polyglandular syndrome type 1[J]. Spec Care Dentist, 2022, 42(5):531-535.
[20] Zhan F, Cao L. Late-onset autoimmune polyendocrine syndrome type 1: A case report and literature review[J]. Immunol Res, 2021, 69(2):139-144.
[21] Belllo MO, Garla VV. Polyglandular autoimmune syndrome type Ⅰ[M]. Treasure Island(FL):StatPearls Publishing,2019.
[22] Mezgueldi E, Bertholet-Thomas A, Milazzo S, et al. Early-onset hypoparathyroidism and chronic keratitis revealing APECED[J]. Clin Case Rep, 2015, 3(10):809-813.
[23] 熊燕. 自身免疫性多内分泌腺病综合征一例[J]. 新医学, 2015, 46(4):268-272.
Xiong Y. A case of autoimmune polyendocrine syndrome[J]. New Medicine, 2015, 46(4):268-272. (in Chinese)
[24] Paldino G, Faienza MF, Cappa M, et al. Analysis of a series of Italian APECED patients with autoimmune hepatitis and gastro-enteropathies[J]. Front Immunol, 2023, 14:1172369.
[25] Orlova EM, Sozaeva LS, Kareva MA, et al. Expanding the phenotypic and genotypic landscape of autoimmune polyendocrine syndrome type 1[J]. J Clin Endocrinol Metab, 2017, 102(9):3546-3556.
[26] Mesbah Z, Tiwari N, Sacco K. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy-associated hepatitis[J]. ACG Case Rep J, 2023, 10(12):e01235.
[27] Lévy R, Escudier A, Bastard P, et al. Ruxolitinib rescues multiorgan clinical autoimmunity in patients with APS-1[J]. J Clin Immunol 2023, 44(1):5.
[28] Aytekin ES, Cagdas D. APECED and the place of AIRE in the puzzle of the immune network associated with autoimmunity[J]. Scand J Immunol, 2023, 98(2):e13299.
[29] Husebye ES, Ingelfinger JR, Anderson MS, et al. Autoimmune polyendocrine syndromes[J]. N Engl J Med, 2018, 378(12):1132-1141.
[30] Jacobson JD, Broussard JR, Marsh C, et al. Attenuation of autoimmune phenomena in a patient with autoimmune polyglandular syndrome type 1[J]. Case Rep Endocrinol, 2021, 2021:1-5.
[31] Borchers J, Pukkala E, Mäkitie O, et al. Patients with APECED have increased early mortality due to endocrine causes, malignancies and infections[J].J Clin Endocrinol Metab, 2020, 105(6):e2207-e2213.

自身免疫性多发内分泌腺病综合征1型1例

A case of autoimmune polyendocrine syndrome type 1

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