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Autoimmune polyglandular syndrome of type 1 (hypoparathyroidism, adrenal insufficiency): difficulties in determining the differential and true diagnosis
https://doi.org/10.21508/1027-4065-2023-68-6-137-143
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.
About the Authors
E. S. Keshishian
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University; Ilyinskaya Hospital
Russian Federation
Russian Federation
Krasnogorsk
E. V. Tozliyan
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University; Ilyinskaya Hospital
Russian Federation
Russian Federation
Krasnogorsk
A. V. Molokoedova
Ilyinskaya Hospital
Russian Federation
Russian Federation
Krasnogorsk
References
1. Volkova N.S., Aksu A. Rare diseases and legal regulation in Russia and abroad. Zhurnal zarubezhnogo zakonodatelstva I sravnitelnogo pravovedenia 2018; 71(4): 154–160. (in Russ.)
2. Chicherin L.P., Prokofjeva Ja.A. Modern problems of orfan diseases. Bulleten Natsionalnogo nauchno-issledovatelskogo instituta obshestvennogo zdorovya 2019; 1: 118–124. (in Russ.)
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
4. Novikov P.V. Problem of rare orfan genetic diseases in children in Russia and the way of its solution. Rossyskyi vestnik perinatologii i pediatrii 2012; 2: 4–8. (in Russ.)
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
6. Thorpe E.S., Handley H.E. Chronic tetany and chronic mycelial stomatitis in a child aged four-one-half years. Am J Dis Child 1929; 80: 1479–1480
7. Leonard M.F. Chronic idiopathic hypoparathyroidism with superimposed Addison’s disease in a child. J Clin Enocrinpl Metab 1946; 6: 493–495
8. Whitaker J., Landing B.H., Esselborn V.M., Williams R.R. The syndrome of familial juvenile hypoadrenocorticism, hypoparathyroidism and superficial moniliasis. J Endocrinol 1956; 16: 1374–1387. DOI: 10.1210/jcem-16–10–1374
9. Neufeld M., Maclaren N.K., Blizzard R.M. Two types of autoimmune Addison’s disease associated with different polyglandular autoimmune (PGA) syndromes. Medicine (Baltimore) 1981; 60: 355–362. DOI: 10.1097/00005792–198109000–00003
10. Betterle C., Greggio N.A., Volpato M. Clinical review 93: Autoimmune polyglandular syndrome type 1. J Clin Endocrinol Metab 1998; 83(4): 1049–1055. DOI: 10.1210/jcem.83.4.4682
Review
For citations:
Keshishian E.S., Tozliyan E.V., Molokoedova A.V. Autoimmune polyglandular syndrome of type 1 (hypoparathyroidism, adrenal insufficiency): difficulties in determining the differential and true diagnosis. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2023;68(6):137-143. (In Russ.) https://doi.org/10.21508/1027-4065-2023-68-6-137-143
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