Autoimmune Polyglandular Syndrome (APS) Type 1 is a rare hereditary disorder that damages organs in the body. This disease entity is the result of a mutation in the AIRE gene. It is characterized by three classic clinical features - hypoparathyroidism, Addison's disease, and chronic mucocutaneous candidiasis. For a patient to be diagnosed as having APS Type 1 syndrome at least two of these features needs to be present. The third entity may develop as the disease progresses. We report a case of a 35-year-old female patient with a history of seizure from the age of 11 years, who was managed with anticonvulsant drugs. With worsening of the seizure episodes, patient was diagnosed to have hypoparathyroidism together with the manifestations of oral candidiasis, nails dystrophy, enamel hypoplasia, and hypogonadism. A diagnosis of APS-1 was considered. The facility for genetic analysis of the AIRE gene mutation was not accessible, as the test costs were prohibitive and not affordable for the patient. Patient management was directed to treating individual disease components. However, cerebral and dental changes were irreversible.
Francisco A. Bonilla, David A. Khan, Zuhair K. Ballas, Javier Chinen, Michael M. Frank, Joyce T. Hsu, Michael Keller, Lisa J. Kobrynski, Hirsh D. Komarow, Bruce Mazer, Robert P. Nelson, Jordan S. Orange, John M. Routes, William T. Shearer, Ricardo U. Sorensen, James W. Verbsky, David I. Bernstein, Joann Blessing-Moore, David Lang, Richard A. Nicklas, John Oppenheimer, Jay M. Portnoy, Christopher R. Randolph, Diane Schuller, Sheldon L. Spector, Stephen Tilles, Dana Wallace, Francisco A. Bonilla, David A. Khan, David I. Bernstein, Joann Blessing-Moore, David Khan, David Lang, Richard A. Nicklas, John Oppenheimer, Jay M. Portnoy, Christopher R. Randolph, Diane Schuller, Sheldon L. Spector, Stephen Tilles, Dana Wallace, Francisco A. Bonilla, Zuhair K. Ballas, Javier Chinen, Michael M. Frank, Joyce T. Hsu, Michael Keller, Lisa J. Kobrynski, Hirsh D. Komarow, Bruce Mazer, Robert P. Nelson, Jordan S. Orange, John M. Routes, William T. Shearer, Ricardo U. Sorensen and James W. Verbsky (2015) Practice parameter for the diagnosis and management of primary immunodeficiency. Journal of Allergy and Clinical Immunology136(5):1186. doi: 10.1016/j.jaci.2015.04.049
Gilbert G.G. Donders, Katerina S. Ruban, Gert Bellen and Sivtrigaile Grinceviciene (2018) Diagnostics to Pathogenomics of Sexually Transmitted Infections. 293. doi: 10.1002/9781119380924.ch15
Ifeanyi Nwosu, Oreoluwa Oladiran, Chinyere Ogbonna-Nwosu and Anulika Anyata (2019) Autoimmune polyglandular syndrome type 1: a case report and brief review. Journal of Community Hospital Internal Medicine Perspectives9(3):252. doi: 10.1080/20009666.2019.1616523
P. Roncalés-Samanes, A. de Arriba Muñoz, G.M. Lou Francés, M. Ferrer Lozano, M.L. Justa Roldán and J.I. Labarta Aizpun (2015) Síndrome poliglandular autoinmune tipo 1 y mutación C322fsX372. Anales de Pediatría82(1):e60. doi: 10.1016/j.anpedi.2014.01.012
Gilbert G.G. Donders, Svitrigaile Grinceviciene, Gert Bellen and Kateryna Ruban (2018) Is multiple-site colonization with Candida spp. related to inadequate response to individualized fluconazole maintenance therapy in women with recurrent Candida vulvovaginitis?. Diagnostic Microbiology and Infectious Disease92(3):226. doi: 10.1016/j.diagmicrobio.2018.05.024
Jane Hejlesen, Line Underbjerg, Hans Gjørup, Agnes Bloch-Zupan, Tanja Sikjaer, Lars Rejnmark and Dorte Haubek (2018) Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic Review. Front. Physiol.9:. doi: 10.3389/fphys.2018.00701
This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-Share Alike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.