Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy from the pediatric perspective View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2013-11

AUTHORS

D. Capalbo, N. Improda, A. Esposito, L. De Martino, F. Barbieri, C. Betterle, C. Pignata, M. Salerno

ABSTRACT

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disease caused by mutations of the AutoImmune REgulator gene. The clinical spectrum of the disease encompasses several autoimmune endocrine and non-endocrine manifestations, which may lead to acute metabolic alterations and eventually life-threatening events. The clinical diagnosis is defined by the presence of at least two components of the classic triad including chronic mucocoutaneous candidiasis (CMC), chronic hypoparathyroidism (CH), Addison's disease (AD). Other common features of the disease are hypergonadotropic hypogonadism, alopecia, vitiligo, autoimmune hepatitis, Type 1 diabetes, gastrointestinal dysfunction. APECED usually begins in childhood. CMC is the first manifestation to appear, usually before the age of 5 yr, followed by CH and then by AD. The clinical phenotype may evolve over several years and many components of the disease may not appear until the 4th or 5th decade of life. The phenotypical expression of the syndrome shows a wide variability even between siblings with the same genotype. In view of this heterogeneity, an early diagnosis of APECED can be very challenging often leading to a considerable diagnostic delay. Therefore, clinicians should be aware that the presence of even a minor component of APECED in children should prompt a careful investigation for other signs and symptoms of the disease, thus allowing an early diagnosis and prevention of severe and life-threatening events. Aim of this review is to focus on clinical presentation, diagnosis and management of the major components of APECED in children particularly focusing on endocrine features of the disease. More... »

PAGES

903-912

References to SciGraph publications

  • 2008-11. Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and lethal lung disease in one of the affected brothers in EUROPEAN JOURNAL OF PEDIATRICS
  • 1997-12. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains in NATURE GENETICS
  • 2012-04. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy (APECED) in Sicily: confirmation that R203X is the peculiar AIRE gene mutation in JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
  • 2012-02. Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis-ectodermal-distrophy patients from Campania and in their relatives in JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
  • 1998-11. A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients in HUMAN GENETICS
  • 2012-01. High intrafamilial variability in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: A case study in JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
  • 1994-09. An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21 in NATURE GENETICS
  • 2013-12. Non-autoimmune subclinical hypothyroidism due to a mutation in TSH receptor: report on two brothers in ITALIAN JOURNAL OF PEDIATRICS
  • 2012-11. Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy in Calabria: Clinical, immunological and genetic patterns in JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
  • 2009-02. Chronic inflammatory demyelinating polyneuropathy as a possible novel component of autoimmune poly-endocrine-candidiasis-ectodermal dystrophy in EUROPEAN JOURNAL OF PEDIATRICS
  • 1997-12. Positional cloning of the APECED gene in NATURE GENETICS
  • 1998-12. Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1) in HUMAN GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.3275/8999

    DOI

    http://dx.doi.org/10.3275/8999

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1078737499

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/23723078


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    105 schema:description Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disease caused by mutations of the AutoImmune REgulator gene. The clinical spectrum of the disease encompasses several autoimmune endocrine and non-endocrine manifestations, which may lead to acute metabolic alterations and eventually life-threatening events. The clinical diagnosis is defined by the presence of at least two components of the classic triad including chronic mucocoutaneous candidiasis (CMC), chronic hypoparathyroidism (CH), Addison's disease (AD). Other common features of the disease are hypergonadotropic hypogonadism, alopecia, vitiligo, autoimmune hepatitis, Type 1 diabetes, gastrointestinal dysfunction. APECED usually begins in childhood. CMC is the first manifestation to appear, usually before the age of 5 yr, followed by CH and then by AD. The clinical phenotype may evolve over several years and many components of the disease may not appear until the 4th or 5th decade of life. The phenotypical expression of the syndrome shows a wide variability even between siblings with the same genotype. In view of this heterogeneity, an early diagnosis of APECED can be very challenging often leading to a considerable diagnostic delay. Therefore, clinicians should be aware that the presence of even a minor component of APECED in children should prompt a careful investigation for other signs and symptoms of the disease, thus allowing an early diagnosis and prevention of severe and life-threatening events. Aim of this review is to focus on clinical presentation, diagnosis and management of the major components of APECED in children particularly focusing on endocrine features of the disease.
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