Autoimmune polyglandular syndrome type 1: literature data and description of a clinical case
DOI:
https://doi.org/10.15574/SP.2024.139.129Keywords:
autoimmune polyendocrine syndromes, hypoparathyroidism, adrenal insufficiency, candidiasis, hypogonadism, ectodermal dystrophy, childrenAbstract
Autoimmune polyglandular syndrome with or without candidiasis and ectodermal dystrophy or APECED - autoimmune polyglandular-candidiasis-ectodermal dystrophy (APS-1, OMIM: 240300; synonyms: Whitaker syndrome, Blizzard syndrome is a rare (orphan) disease. In this pathological condition’s pathogenesis lie autoimmune disorders with the antibodies’ formation against endocrine glands, which causes pathological damage of their insufficiency, at the same time, APS-1 belongs to hereditary monogenic diseases.
Aim - considering the lack of awareness of a wide range of practicing doctors regarding this rare (orphan) pathology, and the creation of network of Orphan Pathology Centers in Ukraine, a brief review of literary sources and the description of a clinical case with an emphasis on modern approaches to diagnostics, differential diagnostics and treatment of APS-1 is provided.
Clinical case. A 15-year and 11-month old patient was admitted to hospital treatment at Regional Children's Clinical Hospital with newly diagnosed diabetes in a ketoacidosis state. While gathering anamnesis and performing examination it was also revealed that the other endocrine glands were damaged: hypoparathyroidism, hypogonadism, and signs of ectodermal dysplasia and persistent candidiasis. All this together made it possible to establish the diagnosis of APS-1 type, but not its classic form. Considering the absence of adrenal gland damage and relatively mild manifestations of candidiasis the child is recommended to undergo a molecular genetic examination and determination of organ-specific antibodies against the affected endocrine glands. The girl receives replacement therapy according to the spectrum of endocrine organs’ damage, and is under the multidisciplinary specialists’ team supervision of the Regional Children Clinical Hospital’s Orphan Center.
Conclusions. APS-1 is a rare (orphan) disease, the pathogenesis of which is characterized by a combination of genetic (AIRE gene mutations) and autoimmune mechanisms of disease development. The clinical feature of this disease is multiple manifestations of endocrine gland insufficiency in various combinations, which usually appear in childhood, but individual components of the syndrome can manifest at any age. To timely identify, determine and improve the prognosis of APS-1, a wide range of doctors need to be aware of the disease diagnosing and monitoring of this patient group.
The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of the clinical base. The informed consent of the patient was obtained for conducting the studies.
The authors declare that they have no conflict of interest.
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