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Minerva Pediatrica 2016 June;68(3):226-9

Copyright © 2016 EDIZIONI MINERVA MEDICA

language: English

APECED syndrome in childhood: clinical spectrum is enlarging

Mariella VALENZISE, Luca ALESSI, Enrico BRUNO, Valeria CAMA, Daria COSTANZO, Cristina GENOVESE, Cristina MIGNOSA, Veronica SCUDERI, Filippo DE LUCA

Unit of Pediatrics, Department of Pediatric Sciences, University of Messina, Messina, Italy


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Autoimmune polyendocrinopathy-candidiasis-ectodermal-distrophy (APECED) is a rare autosomal recessive disease, which is mainly characterized by the association of many autoimmune diseases, with a classic triad including chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Its clinical spectrum has significantly enlarged in the last years and other non-classic components have been recently described. Aim of this review was to alert pediatricians to these novel clinical aspects of this syndrome, that have been recently included among the autoimmune APECED manifestations: a) chronic lung disease, that may evolve to cor pulmonale and terminal respiratory failure; b) chronic inflammatory demyelinating polineuropathy, with progressive muscular weakness of both arms and legs and sensory loss; c) gastrointestinal dysfunction, with recurrent diarrhea, malabsorption and steatorrhea or chronic constipation. For each of these novel components of APECED, specific autoantibodies against either lung autoantigens or peripheral nerves or tryptophan hydroxylase have been just recently identified.

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