A Case of Autoimmune Polyglandular Syndrome Type 1 Presenting with Hypocalcemia

Objective & Hypothesis:Autoimmune polyglandular syndrome type 1 is a very rare monogenic autosomal recessive disease, defined by the presence of at least two of three major diseases: Chronic mucocutanenous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

📊

Key Findings & Data:In this paper, we presented a case of autoimmune polyglandular syndrome type 1 whose initial diagnosis was hypoparathyroidism presenting with hypocalcemia.

💡

Conclusion & Impact:Therefore, young patients with hypocalcemia should be followed on regüler basis for related other autoimmune disease that may occur over time.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:hipoparatiroidi · otoimmun tiroidit · Otoimmun poliglandüler sendrom tip1

Abstract

Autoimmune polyglandular syndrome type 1 is a very rare monogenic autosomal recessive disease, defined by the presence of at least two of three major diseases: Chronic mucocutanenous candidiasis, hypoparathyroidism and autoimmune adrenal failure. The range of these secondary autoimmune disorder is broad and variable. In this paper, we presented a case of autoimmune polyglandular syndrome type 1 whose initial diagnosis was hypoparathyroidism presenting with hypocalcemia. A 14 year old girl presented with hypocalcemia and hypoparathyroidism at the age of 8, and chronic mucocutanenous candidiasis, thyroiditis and hypergonadotropic hypogonadism was detected at follow-up. Autoimmune hypoparathyroidism may a first sign of OPS type 1. Therefore, young patients with hypocalcemia should be followed on regüler basis for related other autoimmune disease that may occur over time.

Özet

Otoimmun poliglandüler sendrom tip 1 (OPS tip 1) oldukça nadir görülen monogenik, otozomal resesif geçişli bir hastalıktır. Kronik mukokutanöz kandidiyazis, hipoparatiroidizm ve otoimmun adrenal yetmezlikten oluşan major bulguların ikisinin varlığı ile tanımlanır. Sekonder otoimmun bozukluklar farklı şekillerde ve geniş bir spektrumda ortaya çıkabilir. Bu yazıda ilk olarak başvurusunda hipokalsemi saptanması üzerine hipoparatiroidizm tanısı alan ve izleminde otoimmun poliglandüler sendrom tip 1 olarak değerlendirilen bir olgu sunulmuştur. 14 yaşında kız hastada ilk olarak 8 yaşında iken hipokalsemi ve hipoparatiroidi tespit edilmiş, izlemde kronik mukokutanoz kandidiazis, tiroidit ve hipergonadotropik hipogonadizm saptanmıştır. Otoimmün hipoparatiroidizm OPS tip 1’in başlangıç bulgusu olabilir. Bu nedenle erken yaşlarda hipokalsemi ile başvuran olgular zaman içerisinde ortaya çıkabilecek eşlik eden diğer otoimmun hastalıklar açısından düzenli aralıklarla kontrol edilmelidir.

Keywords

hipoparatiroidi otoimmun tiroidit Otoimmun poliglandüler sendrom tip1 hypoparathyoidism autoimmune thyroiditis Autoimmune polyglandular syndrome type 1

🔖

Cite This Article

KORKMAZ, Ö., ÖZEN, S., GÖKŞEN, D., DARCAN, Ş. (2019). A Case of Autoimmune Polyglandular Syndrome Type 1 Presenting with Hypocalcemia. Kırıkkale Üniversitesi Tıp Fakültesi Dergisi, Cilt: 21 - Sayı: 1, 109–114. https://ajindex.com/articles/209268

📄 Full Text PDF Viewer

Open in New Tab ↗

↗New Tab

📄

PDF görüntüleyici hazırlanıyor...

References (15)

Perheentupa J. APS-I/APECED: the clinical disease and therapy. Endocrinol Metab Clin N Am. 2002;31(2):295-320
Buzi F, Badolato R, Mazza C, Giliani S, Notarangelo LD, Radetti G et al. Autoimmune Polyendocrinopathy-Candidosis-Ectodermal Dystrophy Syndrome: Time to review diagnostic criteria? J Clin Endocrinol Metab. 2003;88(7):3146-8
Meloni A, Willcox N, Meager A, Atzeni M, Wolff AS, Husebye ES et al. Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. J Clin Endocrinol Metab. 2012;97(4):1114-24
Bruserud O, Oftedal BE, Landegren N. A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1. J Clin Endocrinol Metab. 2016;101(8):2975-83
Owen CJ, Cheetham TD, Pearce SHS. Polyglandular Syndromes. Brook CGD, Clayton PE, Brown RS, eds. Brook's Clinical Pediatric Endocrinology 6th ed. West Sussex, UK: Wiley-Blackwell. 2009:327-42
Brun JM. Juvenile autoimmune polyendocrinopathy. Horm Res. 1982;16(5):308-16
Husebye SE, Anderson MS, Kämpe O. Autoimmune Polyendocrine Syndromes. N Engl J Med. 2018;378:1132-41. Doi: 10.1056/NEJMra1713301
Alimohammadi M, Björklund P, Hallgren A, Pöntynen N, Szinnai G, Shikama N et al. Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. N Engl J Med. 2008;358(10):1018-28
Puel A, Doffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C et al. Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med. 2010; 207(2): 291-7
Betterle C, Zancbetta R. Update on autoimmune polyendocrine syndromes. Acta Biomed. 2003;74(1):9-33
Dilek E, Iscan B, Ekuklu G, Tutunculer F. Retrospective evaluation of the cases diagnosed as Hashimoto’s Thyroiditis. J Child. 2000;11(2):73-7
Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab. 2006;91(8):2843-50
Maclaren N, Chen QY, Kukreja A, Marker J, Zhang CH, Sun ZS. Autoimmune hypogonadism as part of an autoimmune polyglandular syndrome. J Soc Gynecol Investig. 2001;8(1):52-4
Betterle C, Dal Pra C, Mantero F, Zanchetta R. Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: Autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction. Endocr Rev. 2002;23:327-64
Bakalov VK, Vanderhoof VH, Bondy CA, Nelson LM. Adrenal antibodies detect asymptomatic auto-immune adrenal insu