Autoimmune polyendocrine syndrome type 1
Autoimmune polyendocrine syndrome type 1 (pronounced as: aw-toh-ih-MYOON pol-ee-en-do-KREEN sind-rome type 1), also known as APS-1 or APECED (Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy), is a rare genetic disorder characterized by the malfunction of the immune system, leading to the attack on the body's own tissues and organs.
Etymology
The term "autoimmune" (from Greek auto meaning "self") refers to the immune system's response against the body's own cells. "Polyendocrine" (from Greek poly meaning "many" and endocrine referring to the hormone-secreting system) indicates that multiple endocrine glands are affected. "Syndrome" (from Greek syndrome meaning "running together") refers to the collection of signs and symptoms that occur together and characterize a particular abnormality or condition.
Symptoms
The symptoms of APS-1 may vary greatly among individuals. However, the most common manifestations include chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. Other symptoms may include ectodermal dystrophy, gastrointestinal dysfunction, and hepatic autoimmunity.
Causes
APS-1 is caused by mutations in the AIRE (Autoimmune Regulator) gene. This gene is responsible for producing a protein that plays a crucial role in the immune system by helping the body distinguish its own proteins from those made by foreign invaders such as viruses and bacteria.
Diagnosis
Diagnosis of APS-1 is based on clinical evaluation, detailed patient history, and a variety of specialized tests including genetic testing to detect mutations in the AIRE gene.
Treatment
Treatment of APS-1 is focused on managing the symptoms and preventing complications. This may include hormone replacement therapy, antifungal treatment for candidiasis, and immunosuppressive therapy.
See also
References
External links
- Medical encyclopedia article on Autoimmune polyendocrine syndrome type 1
- Wikipedia's article - Autoimmune polyendocrine syndrome type 1
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