| Autor: |
Troshina VV; Endocrinology Research Center., Romanova NY; Endocrinology Research Centre., Sozaeva LS; Endocrinology Research Centre., Troshina EA; Endocrinology Research Centre. |
| Jazyk: |
ruština |
| Zdroj: |
Problemy endokrinologii [Probl Endokrinol (Mosk)] 2019 Nov 23; Vol. 65 (5), pp. 362-366. Date of Electronic Publication: 2019 Nov 23. |
| DOI: |
10.14341/probl10295 |
| Abstrakt: |
Autoimmune polyglandular syndrome type 1 (APS-1) is a rare disease with autosomal recessive inheritance and it caused by mutations in the autoimmune regulator (AIRE) gene. This disease has clinical polymorphism that including besides endocrinopathies other organ-specific manifestations and that complicates to diagnose of this condition on time. However, most often APS-1 has a characteristic debut and a certain stage of clinical symptom manifestation. This article describes a case report of an 18-year-old patient with confirmed APS-1, in which the course of disease was erased over a long period of life and didnt meet of clinical criteria for the diagnosis in this syndrome. A high quality of life for such patients is possible with timely, individually selected replacement therapy with subsequent follow-up. It is important to remember the need for screening in risk groups for the formation of clinical forms of APS among the subjects presenting with a single endocrine pathology. The continuity of medical supervision by pediatric and adult endocrinological service physicians must be respected that can be traced on the example of the case from our practice. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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