Details

Autor(en) / Beteiligte

• Valenzise, Mariella
• Alessi, Luca
• Bruno, Enrico
• Cama, Valeria
• Costanzo, Daria
• Genovese, Cristina
• Mignosa, Cristina
• Scuderi, Veronica
• DE Luca, Filippo

Titel

APECED syndrome in childhood: clinical spectrum is enlarging

Ist Teil von

• Minerva pediatrica, 2016-06, Vol.68 (3), p.226

Ort / Verlag

Italy

Erscheinungsjahr

2016

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.