Autoimmune hepatitis as the first manifestation of autoimmune polyendocrine syndrome type 1 in a 5-year-old girl
https://doi.org/10.21508/1027-4065-2021-66-4-101-108
Abstract
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.
About the Authors
E. A. YablokovaRussian Federation
Moscow
A. M. Rimskaya
Russian Federation
Moscow
Yu. P. Grintsevich
Russian Federation
Moscow
A. V. Vitebskaya
Russian Federation
Moscow
E. V. Borisova
Russian Federation
Moscow
A. A. Shavrov
Russian Federation
Moscow
S. I. Ibragimov
Russian Federation
Moscow
E. M. Orlova
Russian Federation
Moscow
L. S. Sozaeva
Russian Federation
Moscow
M. I. Grammatopulo
Russian Federation
Moscow
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Review
For citations:
Yablokova E.A., Rimskaya A.M., Grintsevich Yu.P., Vitebskaya A.V., Borisova E.V., Shavrov A.A., Ibragimov S.I., Orlova E.M., Sozaeva L.S., Grammatopulo M.I. Autoimmune hepatitis as the first manifestation of autoimmune polyendocrine syndrome type 1 in a 5-year-old girl. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2021;66(4):101-108. (In Russ.) https://doi.org/10.21508/1027-4065-2021-66-4-101-108