1. Autoimmune polyglandular syndrome type 1 with diabetes insipidus: a case report.
- Author
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Chen, JiaQi, Lu, Ting, Liu, ChenXiao, Zhao, Yun, Huang, AiJie, Hu, XingNa, Li, Min, Xiang, Rong, Feng, Min, and Lu, HongHong
- Subjects
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GENETICS of autoimmune diseases , *POLYDIPSIA , *GENETIC mutation , *SEQUENCE analysis , *DIABETES insipidus , *AUTOIMMUNE diseases , *ALLELES , *POLYURIA , *DISEASE complications , *ADULTS - Abstract
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. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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