Autoimmune polyglandular syndrome type 1 with diabetes insipidus: a case report

被引：3

作者：

Chen, JiaQi ^{[1
]}

Lu, Ting ^{[1
]}

Liu, ChenXiao ^{[1
]}

Zhao, Yun ^{[1
]}

Huang, AiJie ^{[1
]}

Hu, XingNa ^{[1
]}

Li, Min ^{[1
]}

Xiang, Rong ^{[1
]}

Feng, Min ^{[1
]}

Lu, HongHong ^{[1
]}

机构：

[1] Nanjing Med Univ, Suzhou Municipal Hosp, Affiliated Suzhou Hosp, Dept Endocrinol & Metab, Suzhou, Jiangsu, Peoples R China

来源：

BMC ENDOCRINE DISORDERS | 2021年 / 21卷 / 01期

关键词：

Autoimmune polyendocrine syndrome type 1; Diabetes insipidus; Autoimmune regulator gene; POLYENDOCRINE SYNDROME TYPE-1; REGULATOR AIRE; CANDIDIASIS; MUTATIONS; GENE; CHILDREN;

D O I：

10.1186/s12902-021-00822-6

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Background Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic inherited disease caused by mutations of the autoimmune regulator gene (AIRE). The three major components of this syndrome are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical insufficiency. Case presentation We report a 20-year-old male who was clinically diagnosed with APS-1 at the age of 15. He was admitted to our department this time for suffering from polyuria and polydipsia for 6 months and was finally diagnosed with diabetes insipidus. Whole-exome sequencing (WES) revealed a novel compound heterozygous mutation of the AIRE gene -the c.239 T > G (p.Val80Gly) variant on one allele and the copy number variant (CNV) of 21q22.3(chr21:45,670,150-45,706,528)*1 on the other. Conclusions This case suggests that diabetes insipidus is a rare component of APS-1 and expands the variety of mutations on AIRE gene.

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页数：5

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