Abstract
Hypoparathyroidism is the most common endocrine disorder detected in patients with autoimmune polyendocrine syndrome type 1 (APS-1); however, a parathyroid-specific autoantibody has not yet been identified. Alimohammadi et al. have screened a human parathyroid complementary DNA library with serum samples from patients with APS-1 and detected NACHT leucine-rich-repeat protein 5 (NALP5) immunoreactivity in 49% of patients with APS-1-associated hypoparathyroidism. When measured with a novel fluid-phase radioimmunoassay, these autoantibodies were found to be highly specific for the hypoparathyroid component of APS-1. In addition, NALP5 was predominantly expressed in the parathyroid gland. In this Practice Point commentary, I discuss the mechanistic and diagnostic implications of this finding for patients with APS-1. The natural history of NALP5 autoantibody expression in relation to the development of hypoparathyroidism is currently unclear. Furthermore, the positive and negative predictive value of NALP5 autoantibodies for the prediction of hypoparathyroidism among patients with APS-1 still needs to be defined.
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