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Case report


Autoimmune polyglandular syndrome type 1

Vedeswari C PonranjiniS JayachandranL KayalK Bakyalakshmi
Department of Oral Medicine and Radiology, Sri Ramachandra University, Chennai,Department of Oral Medicine and Radiology, Tamilnadu Government Dental College and Hospital, Chennai, Tamilnadu, India
Date of Submission: 11-Apr-2012, Date of Acceptance: 17-Jul-2012, Date of Web Publication: 31-Oct-2012.
Corresponding Author:
Corresponding Author

Vedeswari C. Ponranjini

Department of Oral Medicine and Radiology, Sri Ramachandra University, Porur, Chennai, Tamilnadu, India.
E-mail: vedeswari80@gmail.com

Corresponding Author:
Corresponding Author

Vedeswari C. Ponranjini

Department of Oral Medicine and Radiology, Sri Ramachandra University, Porur, Chennai, Tamilnadu, India.
E-mail: vedeswari80@gmail.com

DOI: 10.4103/2156-7514.103018 Facebook Twitter Google Linkedin

ABSTRACT


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.
Keywords: Autoimmune, Candidiasis, Ectodermal Dystrophy, Polyendocrinopathy

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  2. 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
  3. 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 Perspectives 9(3):252. doi: 10.1080/20009666.2019.1616523
  4. 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 Pediatría 82(1):e60. doi: 10.1016/j.anpedi.2014.01.012
  5. 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 Disease 92(3):226. doi: 10.1016/j.diagmicrobio.2018.05.024
  6. 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

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