Background: Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Distrophy (APECED) is a rare autosomal recessive disease, caused by mutations of AIRE gene on chromosome 21. It is characterized by three main diseases: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (HP) and Addisons disease (AD).
Objective and hypotheses: In this paper we review the clinical phenotypes and the genotypes of pediatric Sicilian population affected by APECED in order to: i) describe the peculiarities of this population with respect to those described in the literature; ii) to give an overview on the genetic epidemiology of APECED in Sicily and iii) to report new mutations of AIRE gene.
Method: Fifteen Sicilian APECED patients were followed at our Department.
Results: presented CMC, 15/15 presented HP and 13/15 presented AD. One patient of our series presented the triad of the syndrome very early (2.4 years). 5/15 presented gastrointestinal disease with tryptophan hydroxylase antibodies positivity. R203X was the most common mutation in our population (30% of alleles), followed by R257X (20%); other mutations were A21V (13%) and W78R (7%), which are typical of Campania and Apulia, respectively. Two brothers presented a new mutation (IVS13+2T) on intron 13, never described in APECED populations.
Conclusion: On the basis of our experience we can infer that: i) the clinical manifestation that can be considered as connotative of APECED in Sicilian patient is HP (100% of cases); ii) the most frequent mutation in Sicilian APECED patient is R203X, that is peculiar of our population, but other mutation could be present as W78R, tipical of Apulian cases and A21V typical of Campania; iii) the triad of the syndrome may appear very early in the life as observed in one patient of our series; for this reason the clinicians should be vigilant of diagnosis in order to initiate treatment very early.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology