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Autoimmune polyglandular syndrome type 1 with end stage renal disease; rare presentation with novel allelic variant: a case report
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Health Sciences
Abstract:
Autoimmune polyendocrinopathy syndrome type 1 is a rare disease caused by mutations in the autoimmune regulator gene (AIRE) leading to immune injury of multiple organs (mainly endocrine). We describe a case with autoimmune polyendocrinopathy syndrome type 1 presented with features of chronic mucocutaneous candidiasis and hypoparathyroidism. End stage renal disease was found and the renal biopsy confirmed tubulo-interstitial nephritis which is very rarelyencountered in these patients. Molecular genetic analysis of AIRE gene showed homozygous variant c.274C>T p. (Arg92Trp) which is classified as pathogenic.
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