Pediatric Autoimmune Polyendocrine Syndrome

Pediatric Autoimmune Polyendocrine Syndrome

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Summary

Autoimmune polyendocrine syndrome is a rare disease in which the body’s immune system attacks its own tissues and endocrine glands. 

Expanded Overview

Autoimmune polyendocrine syndrome is a term used to describe when a child has at least two of these three specific autoimmune disorders, which 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. 

Causes

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. 

Symptoms

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:

Symptoms of chronic mucocutaneous candidiasis (CMC) include:

Symptoms of hypoparathyroidism include:

  • Brittle nails
  • Extremely dry skin
  • Extreme fatigue (tiredness)
  • Hair loss
  • Leg cramps
  • Muscle aches
  • Muscle spasms around the mouth, throat, arms and hands
  • Tingling in fingertips, toes and lips
     

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