Autoimmune polyglandular syndrome of type 1 (hypoparathyroidism, adrenal insufficiency): difficulties in determining the differential and true diagnosis

Author:

Keshishian E. S.1ORCID,Tozliyan E. V.1ORCID,Molokoedova A. V.2

Affiliation:

1. Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University; Ilyinskaya Hospital

2. Ilyinskaya Hospital

Abstract

The paper gives the data available in the literature, diagnostic issues and current treatments a rare genetic syndrome in children — autoimmune polyglandular syndrome type 1. Emphasis is laid on major difficulties in the differential and true diagnosis of this disease. The author describes a clinical case. The article presents the importance of the interdisciplinary approach.

Publisher

The National Academy of Pediatric Science and Innovation

Reference10 articles.

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3. Berry S.A., Coughlin C.R. 2-nd, McCandless S., McCarter R., Seminara J., Yudkoff M., LeMons C. Developing interactions with industry in rare diseases: lessons learned and continuing challenges. Genet Med 2020; 22(1): 219–226. DOI: 10.1038/ s41436–019–0616–9

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5. Neufeld M., Blizzard R.M. Polyglandular autoimmune disease. In: Symposium on autoimmune aspects of endocrine disorders. Editors A. Pinchera, D. Doniach, G.F. Fenzi, L. Bachieri New York: Academic Press, 1980; 357–326

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