ESPE Abstracts

Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy(APECED) is a rare autoimmune disease caused by a loss-of-function mutation in the autoimmune regulator gene(AIRE). AIRE gene mutation disrupts the negative selection of self-reactive T cells in the thymus, causing autoimmune reactions in endocrine and non-endocrine tissues. Impairment in T cell function is also associated with susceptibility to specific infections along with autoimmune diseases. Here, two cases who were diagnosed with APECED after COVID-19 infection and died with COVID-19 MIS-C while diagnosed with APECED will be presented.

Case 1: 5.5-year-old female patient was consulted to our clinic because of the detection of hyponatremia, hypoglycemia and hyperkalemia in the tests taken during the follow-up of the pediatric in-patient clinicdue to urinary tract infection. It was learned that she had an infection, had hyponatremia, hyperkalemia and hypoglycemia during the infection, and it was associated with vomiting during the infection. In physical examination; anthropometric values were normal. In the laboratory examination; glucose:62mg/dl, sodium:129mEq/L, potassium:5.53mEq/L, ACTH:942pg/mL and cortisol:5.3µg/dL. With the diagnosis of primary adrenal insufficiency, hydrocortisone treatment and fludrocortisone treatment was started. Other autoimmune diseases (celiac, autoimmune thyroiditis, diabetes autoantibodies, autoimmune hepatitis and hypoparathyroidism) were screened for autoimmune adrenalitis and it was negative. CES analysis result: AIRE, NM_004006.2, c.133-127_ c.539-182del, Exon 2-4 deletion was found to be homozygous.

Case 2: 12.5-year-old male patient who was diagnosed with hypoparathyroidism in another center and had a previously unidentified IVS3-3C>G(c.464-3C>G) homozygous mutation in AIRE gene was referred to our clinic. From his history, when he applied with the complaints of thrush in the mouth, weakness, at the age of eight; ıt was learned that calcitriol treatment was started with the diagnosis of hypoparathyroidism. In physical examination; body weight 35.9kg(-1.86SDS), height 140cm(-2.65SDS), diffuse vitiligo, photophobia, 8ml testicles. The case was admitted for further screening. Hashimoto's thyroiditis-euthyroidism phase (no goiter/nodules), primary adrenal insufficiency (Cortisol:8.1µg/dl ACTH:568pg/ml), autoimmune hemolytic anemia (Coombs positive), autoimmune asplenia (spleen not observed on USG, non-marking on scintigraphy, functioning spleen), autoimmune hypophysitis (infundibulum thick/pituitary heterogeneous) and growth hormone deficiency were detected. Hydrocortisone, growth hormone therapy, penicillin prophylaxis, and a preventive vaccination program were started. During his follow-up, he died with COVID -19 infection and MISC.

Conclusion: Here, two cases with APECED Syndrome, one of whom had a COVID-19 infection and one recovered without any problems and the other died, are presented to draw attention to the precautions to be taken in terms of the follow-up of these cases.