| Autor: |
Taieb Ach, Ben Yamna Hadami, Nadia Ghariani, Randa Said ElMabrouk, Asma Ben Abdelkrim, Maha Kacem, Mohamed Denguezli, Koussay Ach |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
|
| Zdroj: |
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-5 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2052-0573 |
| DOI: |
10.1530/EDM-22-0352 |
| Popis: |
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive inherited syndrome caused by mutations in autoimmune regulator (AIRE) gene. The three clinical components of this syndrome are mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. In addition to these frequent symptoms, many other components have been reported including gastrointestinal manifestations. We report a case of a 17-year-old Caucasian female patient diagnosed with APECED who presented with acute abdominal pain. Her medical history revealed chronic digestive discomfort without bowel movement disorders. The patient needed a significant increase in doses of calcium supplementation and hydrocortisone which appeared to be partially inefficient. Investigation with esophagogastroduodenoscopy and biopsy showed autoimmune atrophic gastritis. The patient eventually needed increasing doses of treatment received in order to achieve desired clinical and biological therapeutic goals. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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