Allgrove syndrome: how to suspect the problem? Endocrinologists experience
https://doi.org/10.14341/probl10296
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.
About the Authors
Natalya I. Volkova
Rostov State Medical University
Russian Federation
Russian Federation
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
Russian Federation
Russian Federation
candidate of medical Sciences, associate professors of department of internal diseases №3
Igor B. Reshetnikov
Rostov State Medical University
Russian Federation
Russian Federation
assistant of department of internal diseases №3
Snezhana S. Brovkina
Rostov State Medical University
Russian Federation
Russian Federation
resident of department of internal diseases №3
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Supplementary files
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2. Fig. 2. Patient A., 25 years old: Allgrove syndrome | |
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Review
For citations:
Volkova N.I., Davidenko I.Y., Reshetnikov I.B., Brovkina S.S. Allgrove syndrome: how to suspect the problem? Endocrinologists experience. Problems of Endocrinology. 2020;66(1):64-69. (In Russ.) https://doi.org/10.14341/probl10296
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