ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 1 Year: 2024
Forms

Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Autoimmune Polyglandular Syndrome Type 3c with Ectodermal Dysplasia, Immune Deficiency and Hemolytic-Uremic Syndrome [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2014; 6(1): 47-50 | DOI: 10.4274/Jcrpe.1128

Autoimmune Polyglandular Syndrome Type 3c with Ectodermal Dysplasia, Immune Deficiency and Hemolytic-Uremic Syndrome

Mithat Büyükçelik1, Mehmet Keskin2, Özlem Keskin3, Ali Bay4, Beltinge Demircioğlu Kılıç1, Yılmaz Kor2, M. Arda Kılınç5, Ayşe Balat1
1Gaziantep University Faculty Of Medicine, Department Of Pediatric Nephrology, Gaziantep, Turkey
2Gaziantep University Faculty Of Medicine, Department Of Pediatric Endocrinology And Metabolism, Gaziantep, Turkey
3Gaziantep University Faculty Of Medicine, Department Of Pediatric Allergy And Immunology, Gaziantep, Turkey
4Gaziantep University Faculty Of Medicine, Department Of Pediatric Hematology, Gaziantep, Turkey
5Gaziantep University Faculty Of Medicine, Department Of Pediatrics, Gaziantep, Turkey

Autoimmune polyglandular syndrome (APS) is a disorder which is associated with multiple endocrine gland insufficiency and also with non-endocrine manifestations. The pathophysiology of APS is poorly understood, but the hallmark evidence of APS is development of autoantibodies against multiple endocrine and non-endocrine organs. These autoantibodies are responsible for the dysfunction of the affected organs and sometimes may also cause non-endocrine organ dysfunction. The hemolytic-uremic syndrome (HUS) is a serious and life-threatening disease which develops due to many etiological factors including autoimmune disorders. Here, we present an unusual case of APS. Ectodermal dysplasia with immune deficiency and HUS occurred concomitantly in the same patient with APS type 3c. Once the autoantibody generation was initiated in the human body, development of multiple disorders due to organ dysfunction and also autoantibody-related diseases may have occurred.

Keywords: Polyglandular syndrome,ectodermal dysplasia,immune deficiency,Hemolytic uremic syndrome

Mithat Büyükçelik, Mehmet Keskin, Özlem Keskin, Ali Bay, Beltinge Demircioğlu Kılıç, Yılmaz Kor, M. Arda Kılınç, Ayşe Balat. Autoimmune Polyglandular Syndrome Type 3c with Ectodermal Dysplasia, Immune Deficiency and Hemolytic-Uremic Syndrome. J Clin Res Pediatr Endocrinol. 2014; 6(1): 47-50
Manuscript Language: English
LookUs & Online Makale