Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population

J Pediatr Endocrinol Metab. 2006 Nov;19(11):1343-52. doi: 10.1515/jpem.2006.19.11.1343.

Abstract

Objective: To determine the Irish prevalence of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), the AIRE mutations involved and clinical features of this population.

Methods: All patients were identified through paediatricians and endocrinologists in Ireland. Patients were invited to attend a multidisciplinary clinic.

Results: Thirty-one patients (2-56 years), 18 female, were identified from 19 families giving an Irish prevalence of 1:130,000. Twenty-six patients had hypoparathyroidism, 21 had adrenal insufficiency (AI) and 10 of 16 had ovarian failure. Three affected patients have died. Many with hypoparathyroidism were resistant to 1-alpha-vitamin D. Two needed daily PTH injections. Mineralocorticoid deficiency as the first manifestation of AI was common. Chronic intra-oral candidiasis affected 25 patients and three had leukoplakia. Two had keratoconjuntivitis. Of 22 with AIRE gene analysis, three different mutations were identified, one of which is novel.

Conclusion: APECED is rare in Ireland. We saw a significant amount of non-endocrine disease but no ectodermal dystrophy. AIRE gene analysis reassured many siblings and identified individuals with APECED prior to any symptoms.

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Child
  • Child, Preschool
  • Female
  • Genetic Testing
  • Humans
  • Ireland / epidemiology
  • Male
  • Middle Aged
  • Mutation
  • Polyendocrinopathies, Autoimmune / epidemiology*
  • Polyendocrinopathies, Autoimmune / ethnology
  • Polyendocrinopathies, Autoimmune / genetics*
  • Polyendocrinopathies, Autoimmune / pathology
  • Prevalence
  • Transcription Factors / genetics

Substances

  • APECED protein
  • Transcription Factors