Pediatric autoimmune polyendocrine syndrome
Autoimmune polyendocrine syndrome (au·to·im·mune poly·en·do·crine syn·drome), also known as polyglandular autoimmune syndrome (PGAS), is a rare disease in which the body’s immune system attacks its own tissues and endocrine glands.
What is pediatric autoimmune polyendocrine syndrome?
Autoimmune polyendocrine syndrome is a term used to describe when a child has at least two of these three specific autoimmune disorders.
These may develop over time during childhood:
Addison’s disease - A condition in which the adrenal glands are unable to produce enough of the hormones cortisol (regulates metabolism) and aldosterone (regulates blood pressure).
Chronic mucocutaneous candidiasis (CMC) - A fungal infection of the skin, nails and mucous membranes.
Hypoparathyroidism - A condition in which the parathyroid glands do not make enough parathyroid hormone (PTH), which regulates calcium and phosphorous levels in the blood.
What are the signs and symptoms of pediatric autoimmune polyendocrine syndrome?
Symptoms of autoimmune polyendocrine syndrome depend on which glands are affected and which types of autoimmune disorders the child develops.
Symptoms of Addison’s disease include:
Craving salt or salty foods
Decreased appetite
Extreme fatigue (tiredness)
Fainting
Hyperkalemia (high potassium)
Hyperpigmentation (darkening of the skin)
Hyponatremia (low sodium)
Irritability
Muscle or joint pain
Pain in the abdomen, lower back or legs
Symptoms of chronic mucocutaneous candidiasis (CMC) include:
Chronic diaper rash in infants
Recurring skin, scalp and nail infections
Recurring vaginal yeast infections
Thick, cracked and discolored nails
Symptoms of hypoparathyroidism include:
Brittle nails
Extremely dry skin
Extreme fatigue (tiredness)
Leg cramps
Muscle aches
Muscle spasms around the mouth, throat, arms and hands
Tingling in fingertips, toes and lips
What are the causes of pediatric autoimmune polyendocrine syndrome?
Autoimmune polyendocrine syndrome is a rare genetic disorder that happens when both parents carry a mutated autoimmune regulator gene, called the AIRE gene, and pass it on to their child.