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Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy from the pediatric perspective.

D Capalbo1, N Improda, A Esposito

  • 1Pediatric Endocrinology Unit, Department of Translational Medical Sciences, University "Federico II" of Naples, Naples, Italy.

Journal of Endocrinological Investigation
|June 1, 2013
PubMed
Summary
This summary is machine-generated.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare genetic disorder. Early recognition of APECED symptoms in children is crucial for timely diagnosis and preventing severe health issues.

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Area of Science:

  • Genetics and Immunology
  • Pediatric Endocrinology

Background:

  • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder.
  • Caused by mutations in the AutoImmune REgulator (AIRE) gene, it presents with diverse autoimmune endocrine and non-endocrine manifestations.

Purpose of the Study:

  • To review the clinical presentation, diagnosis, and management of APECED in children.
  • Emphasis on the endocrine features of this rare syndrome.

Main Methods:

  • Literature review focusing on APECED diagnosis and clinical manifestations.
  • Analysis of the typical disease progression and variability.

Main Results:

  • APECED diagnosis requires at least two of chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CH), and Addison's disease (AD).
  • Other common features include hypogonadism, alopecia, vitiligo, autoimmune hepatitis, Type 1 diabetes, and gastrointestinal issues.
  • Disease onset is typically in childhood, with CMC appearing first, followed by CH and AD, though presentation varies widely.

Conclusions:

  • Early diagnosis of APECED is challenging due to phenotypic heterogeneity, leading to diagnostic delays.
  • Awareness of even minor APECED components in children is vital for prompt investigation and management to prevent life-threatening events.