Autoimmune polyendocrine syndrome
APEDED type 1 is a subtype of autoimmune polyendocrine syndrome.
It causes the dysfunction of multiple endocrine glands due to an autoimmune process.
It is a genetic disorder, inherited in autosomal recessive fashion.
It Is due to a defect in the AIRE gene (autoimmune regulator), which is located on chromosome 21.
The AIRE gene may be affected by any of at least 90 mutations.
Different mutations are seen in different geographic regions.
Mutations may be inherited in an autosomal recessive manner.
The AIRE gene confers immune tolerance.
APS-1 tends to cause severe symptoms present from early in life, usually around 3.5 years of age.
Common symptoms of APS-1 include:
Chronic mucocutaneous candidiasis.
Hypoparathyroidism.
Addison’s disease.
Ectodermal dystrophy of skin, dental enamel, and nails.
APS-1 may be associated with
Autoimmune hepatitis.
Hypogonadism.
Vitiligo.
Alopecia.
Malabsorption.
Pernicious anemia.
Cataract.
Cerebellar ataxia.
APS-1 causes reactions with both interferon omega, interferon alpha. And interleukin 22, leading to damage to endocrine organs.
Common problems include hypercalcemis, nephrocalcinosis pituitary problems, and hypoparathyroidism.
Diagnosis of APS-1 is based on endoscopy, a CT scan, a biopsy and serum endocrine autoantibody screening.
Treatment
Autoimmune polyendocrine syndrome type 1 treatment is based on the symptoms.
Treatments may involve hormone therapy,systemic antifungal treatments,and immunosuppression.