[Assessment of autoantibodies against 21-hydroxylase in the diagnosis of primary autoimmune adrenal insufficiency].

Primary adrenal insufficiency is manifested by a deficiency of adrenal cortex hormones and can lead to a life-threatening condition. Early diagnosis is key to patient survival. Auto-antibodies to one of the adrenal steroidogenesis enzymes, 21-hydroxylase, are an immunological marker of autoimmune adrenal insufficiency. On the one hand, the study of antibodies to 21-hydroxylase is a method that helps establish the etiology of the disease – the autoimmune genesis of adrenal gland damage. On the other hand, the determination of autoantibodies to 21-hydroxylase is the only prognostic factor of the risk of adrenal insufficiency, which makes it possible to prevent the development of acute adrenal crisis. The article provides a brief literature review on autoantibodies to 21-hydroxylase and the pathogenesis of autoimmune adrenal insufficiency, and a series of clinical cases that illustrates the significant role of autoantibodies to 21-hydroxylase in diagnosis of adrenal insufficiency.

[Instrumental and laboratory parameters of myocardial function in adult patients with autoimmune polyglandular syndrome type 2, 3].

BACKGRAUND: Аutoimmune polyglandular syndrome (APS) it is characterized by damage to two or more endocrine glands, which eventually results in the hormonal failure. Some clinical studies describe the development of myocardial lesion in the setting of combined autoimmune endocrine pathology. In Russia the myocardial condition in adult patients with APS types 2 and 3 was examined for the first time. AIM: To evaluate the structure and functional state of the myocardium according to magnetic resonance imaging (MRI), to analyze changes in the spectrum of specific antiheart autoantibodies and markers of heart lesion in patients with APS types 2 and 3. MATERIALS AND METHODS: 50 patients with APS types 2, 3 were studied. 45 of them were performed with delayed contrast heart MRI. All 50 patients were tested for IgG antibodies to heart muscle antigens by indirect enzymatic immunoassay (EIA), for troponin I and natriuretic peptide by chemiluminescence immunoassay (CLIA), for creatine phosphokinase (CPK) by NAC (N - acetyl-L-cysteine), and for C-reactive protein (CRP) by immunoturbidimetry. RESULTS: According to the results of heart MRI (n=45), 91% showed signs of functional changes in the left ventricular (LV) myocardium without any signs of myocarditis. 38 of 45 examined patients had deviation of 2 or more indicants of the LV functional state, MEF 68.9±6.6%, IUMm - 86 [75; 99] g, IUSV - 60.9 [50; 66] ml, IUEDVi - 52 [44; 59] ml/m2 , IUESVi - 17 [15.3; 18] ml/m2 , IUESV - 26 [23; 31] ml, IUEDV - 85 [70; 92] ml. 1 patient (2%) had positive result according to the determination of antibodies (AB) to heart muscle antigens (AG). Troponin 1 indicants did not exceed the reference values. The level of CPK exceeded the reference values in 3 patients (6%), an increase of CRP, NT-proBNP was observed in 7 patients (14%), and a combined increase was observed in 1 case. CONCLUSIONS: We obtained MRI data indicating functional changes in the myocardium in patients with APS types 2 and 3. The autoimmune cause of these changes according to the results of determining of antiheart antibodies was not confirmed in most of the examined patients, the indicants of «damage¼ to the myocardium (troponin 1 and NT-proBNP) did not deviate from the reference range.