Autoimmune hepatitis as the first manifestation of autoimmune polyendocrine syndrome type 1 in a 5-year-old girl
| Autor: | E. A. Yablokova, A. M. Rimskaya, Yu. P. Grintsevich, A. V. Vitebskaya, E. V. Borisova, A. A. Shavrov, S. I. Ibragimov, E. M. Orlova, L. S. Sozaeva, M. I. Grammatopulo |
|---|---|
| Jazyk: | ruština |
| Rok vydání: | 2021 |
| Předmět: |
type 1 autoimmune polyendocrine syndrome
vitiligo autoimmune hepatitis treatment business.industry aire gene r257 * mutation chronic mucocutaneous candidiasis Vitiligo Endocrine Syndrome Autoimmune hepatitis Disease medicine.disease Pediatrics RJ1-570 Liver disease children Autoimmune polyendocrine syndrome Pediatrics Perinatology and Child Health Immunology Adrenal insufficiency p.q94* mutation Medicine Chronic mucocutaneous candidiasis business |
| Zdroj: | Rossijskij Vestnik Perinatologii i Pediatrii, Vol 66, Iss 4, Pp 101-108 (2021) |
| ISSN: | 2500-2228 1027-4065 |
| Popis: | Autoimmune hepatitis is a chronic inflammatory liver disease of unknown etiology; the prevalence of juvenile autoimmune hepatitis is unknown. Autoimmune hepatitis occurs in 10–20% of patients with type 1 autoimmune polyendocrine syndrome, a rare (orphan) disease, which is characterized by a clinical triad in 70–100% of cases: chronic mucocutaneous candidiasis, hypopara thy roidismand adrenal insufficiency, as well as more 25 possible autoimmune endocrine and non-endocrine manifestations.Thisstudy describes a case of a 5-year-old girl with autoimmune hepatitis as the first clinical manifestation of the disease. The symptoms of chronic mucocutaneous candidiasis enabled us to suggest and genetically confirm the diagnosis of autoimmune poly endocrine syndrome type 1 before the lesions of endocrine organs. The girl had nonsense mutations R257 * and p.Q94* of the AIRE gene in a compound heterozygous state. Later, there appeared another autoimmune disorder – common vitiligo.Timelydiagnosisoftype1autoimmunepolyendocrinesyndromeinachildwiththefirstnon-endocrine autoimmune manifestation, initiation of therapy and further medical management made it possible to preventseve recomplications and improve the patient’s quality of life. |
| Databáze: | OpenAIRE |
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