Allgrove syndrome: how to suspect the problem? Endocrinologists experience

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Abstract


Allgrove syndrome (Alacrimia, Achalasia, Adrenal insufficiency, AAAS) is a rare autosomal recessive multisystem disease characterized by chronic adrenal insufficiency, alacrimia and achalasia of the cardia. This disease is often associated with various neurological disorders, amyotrophy, in such cases, it is named 4A and 5A syndrome, but sometimes there is also 2A syndrom. The occurrence of the disease is due to a mutation in the gene AAAS (12q13), which encodes the protein ALADIN. Here is a clinical observation of a patient with Allgrove syndrome. The patient had a typical clinic: alacrimia, achalasia, adrenal insufficiency, convulsive syndrome. However, a neurological disorder, manifested by convulsive syndrome, passed with time. Despite the full clinical picture, the diagnosis was made only after 14 years. Allgrove syndrome was verified through genetic analysis revealed a pathogenic mutation c.43C>T gene AAAS. Progression of the severity of alacrimia and need of glucocorticoids over time was noted. We shown the difficulty of diagnosis is due to the lack of awareness of clinicians about the disease, the importance of interdisciplinary interaction, as well as the need for follow-up of such patients.


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About the authors

Natalya I. Volkova

Rostov State Medical University

Email: volkova_ni@rostgmu.ru
ORCID iD: 0000-0003-4874-7835
SPIN-code: 3146-8337
Scopus Author ID: 71018489438943
ResearcherId: U-1230-2019

Russian Federation, 344022, Rostov-on-Don, Nahichevansky av., 29

Ph.D., professor of medicine, vice rector for scientific work, chief of the department of internal diseases No. 3, chief of the department of therapy (endocrinologic profile)

Ilya Y. Davidenko

Rostov State Medical University

Email: davidenko.iu@gmail.com
ORCID iD: 0000-0002-8690-681X
SPIN-code: 4532-0724
Scopus Author ID: 55342181200
ResearcherId: L-3096-2016

Russian Federation, 344022, Rostov-on-Don, Nahichevansky av., 29

candidate of medical Sciences, associate professors of department of internal diseases №3

Igor B. Reshetnikov

Rostov State Medical University

Author for correspondence.
Email: Reshetnikov_ib@rostgmu.ru
ORCID iD: 0000-0003-3445-322X
SPIN-code: 4320-2716

Russian Federation, 344022, Rostov-on-Don, Nahichevansky av., 29

assistant of department of internal diseases №3

Snezhana S. Brovkina

Rostov State Medical University

Email: snegka12345@ya.ru
ORCID iD: 0000-0002-2486-5223
SPIN-code: 3059-0330

Russian Federation, 344022, Rostov-on-Don, Nahichevansky av., 29

resident of department of internal diseases №3

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Supplementary files

Supplementary Files Action
1.
Fig. 1. Patient A., 18 years old: Allgrove syndrome

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2.
Fig. 2. Patient A., 25 years old: Allgrove syndrome

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Copyright (c) 2020 Volkova N.I., Davidenko I.Y., Reshetnikov I.B., Brovkina S.S.

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