Clinical case report: history of diagnosis and clinical features of type autoimmune polyglandular syndrome 1

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Abstract


Autoimmune polyglandular syndrome type 1 (APS-1) is a rare disease with autosomal recessive inheritance and it caused by mutations in the autoimmune regulator (AIRE) gene. This disease has clinical polymorphism that including besides endocrinopathies other organ-specific manifestations and that complicates to diagnose of this condition on time. However, most often APS-1 has a characteristic debut and a certain stage of clinical symptom manifestation. This article describes a case report of an 18-year-old patient with confirmed APS-1, in which the course of disease was erased over a long period of life and didn’t meet of clinical criteria for the diagnosis in this syndrome. A high quality of life for such patients is possible with timely, individually selected replacement therapy with subsequent follow-up. It is important to remember the need for screening in risk groups for the formation of clinical forms of APS among the subjects presenting with a single endocrine pathology. The continuity of medical supervision by pediatric and adult endocrinological service physicians must be respected that can be traced on the example of the case from our practice.


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About the authors

Viktoriya V. Troshina

Endocrinology Research Center

Author for correspondence.
Email: for.troshina@gmail.com
ORCID iD: 0000-0001-8330-0495
SPIN-code: 9143-1571

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036

resident

Natalia Yu. Romanova

Endocrinology Research Centre

Email: oktreotid8@gmail.com
ORCID iD: 0000-0002-9117-4908
SPIN-code: 5288-2968

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036

MD

Leila S. Sozaeva

Endocrinology Research Centre

Email: leila.sozaeva@gmail.com
ORCID iD: 0000-0002-5650-1440
SPIN-code: 9983-5662

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036

MD, PhD

Ekaterina A. Troshina

Endocrinology Research Centre

Email: troshina@imbox.ru
ORCID iD: 0000-0002-8520-8702
SPIN-code: 8821-8990
Scopus Author ID: 24081800800

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036

MD, PhD, professor, corresponding member of the RAS

References

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Supplementary files

Supplementary Files Action
1.
Fig. 1. Appearance of the patient.

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Fig. 2. Hyperpegmentation of palmar lines.

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Fig. 3. Hyperpigmentation of elbows and knees.

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Fig. 4. Candidiasis mucous language.

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Copyright (c) 2020 Troshina V.V., Romanova N.Y., Sozaeva L.S., Troshina E.A.

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