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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. Yablokova
Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation

Moscow



A. M. Rimskaya
Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation

Moscow



Yu. P. Grintsevich
Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation

Moscow



A. V. Vitebskaya
Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation

Moscow



E. V. Borisova
Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation

Moscow



A. A. Shavrov
Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation

Moscow



S. I. Ibragimov
Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation

Moscow



E. M. Orlova
National Medical Research Center of Endocrinology
Russian Federation

Moscow



L. S. Sozaeva
National Medical Research Center of Endocrinology
Russian Federation

Moscow



M. I. Grammatopulo
Medical Center-Childhood LLC
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

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ISSN 1027-4065 (Print)
ISSN 2500-2228 (Online)