Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
- PubMed: 16684821
Abstract
CONTEXT: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is known as a rare hereditary disease with classic triad of mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical failure, two of which, diagnostic dyad, are required for the diagnosis. Evidently many patients suffer unrecognized because the condition is more variable and complex. OBJECTIVE: The objective of the study was to describe the variability of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy for promoting recognition and adequate follow-up of patients. SETTING: The Finnish series of patients is the largest internationally. PATIENTS: The study population was all 91 known Finnish patients. RESULTS: Besides the classical triad, a dozen autoimmune endocrine and other components occurred variably, several of them dangerous. The initial manifestation appeared within the age range of 0.2-18 yr, mucocutaneous candidiasis being part of it in 60% of the patients, hypoparathyroidism in 32%, and adrenocortical failure in 5%. But 23% of the patients had one to six other components before the diagnostic dyad: hepatitis, keratoconjunctivitis, chronic diarrhea, periodic rash with fever. The dyad appeared 0.2-20 yr later. Prevalence of most components increased with age, diabetes mellitus, hypothyroidism, and testicular failure becoming common toward middle age. Tubulointerstitial nephritis occurred in 9% of the patients, apparent mineralocorticoid excess in 9%, asplenia in 19% of adults, and oral or esophageal squamous cell carcinoma in 10% of patients older than 25 yr. CONCLUSIONS: Any child or young adult with one of the many disease components should be examined for others and consideration of AIRE mutation assay.
Author-supplied keywords
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
JAAKKO PERHEENTUPA
The Hospital for Children and Adolescents, Helsinki University Hospital, FIN-00029 Helsinki,
Finland
Abbreviated title: APECED
The author has no conflicts of interest
Key words: adrenocortical failure; alopecia; APECED; APS-I; AME; apparent
mineralocorticoid excess; asplenia; enamel hypoplasia; mucocutaneous; diabetes mellitus;
diarrhea, chronic; hepatitis; hypogonadism; hypoparathyroidism; hypothyroidism;
keratoconjunctivitis; nail dystrophy; squamous cell carcinoma, oral/ esophageal; ovarian
failure; T1DM; testicular failure; TIN; nephritis, tubulointerstitial; vitiligo.
Word count: 3597, abstract 232, no.of references 35, no.of tables 5, no. of figures 2
Address for the author: Merikatu 3A2, FIN-00140 Helsinki, Finland, phone +358 9 666
407(home); +358 41 545 7189 (mobile); fax + 358 9 471 80288;
Jaakko.Perheentupa@saunalahti.Fi
J Clin Endocrin Metab. First published ahead of print May 9, 2006 as doi:10.1210/jc.2005-2611
Copyright (C) 2006 by The Endocrine Society
Abbreviations: Ab, autoantibodies; AF, adrenocortical failure; AME, apparent
mineralocorticoid excess; APECED, autoimmune polyendocrinopathy-candidiasis-ectodermal
dystrophy; HP, hypoparathyroidism; HT, hypothyroidism; PA, pernicious anemia; PRA,
plasma renin activity; MC, mucocutaneous candidiasis, chronic/ recurrent; OF, ovarian failure;
TF, testicular failure; TIN, tubulointerstitial nephritis.
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