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Title of Journal: Eur J Pediatr

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Abbravation: European Journal of Pediatrics

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Springer-Verlag

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10.1016/0012-821x(75)90052-7

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1432-1076

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An 8yearold boy with autoimmune hepatitis and Ca

Authors: Carla Lintas Marco Cappa Donatella Comparcola Valerio Nobili Alessandra Fierabracci
Publish Date: 2007/09/21
Volume: 167, Issue: 8, Pages: 949-953
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Abstract

An 8yearold boy presented in 1995 with a 2year history of hypertransaminasemia and hypergammaglobulinemia Afterwards the patient displayed onychosis with a positive culture test for Candida albicans CA Because of the persistence of hypertransaminasemia a percutaneous liver biopsy was performed showing ‘low grade chronic active autoimmune hepatitis’ AIH positive for liverkidney microsomal autoantibodies and antibodies to the hepatic autoantigen cytochrome P4501A2 Immunosuppressive treatment was initiated In 2003 he developed Addison’s disease resulting in the diagnosis of autoimmune polyendocrinopathy candidiasisectodermal dysplasia APECED syndrome also known as autoimmune polyendocrine syndrome type 1 APS1 Anti17OH hydroxylase antibodies tested negative anti21OH hydroxylase autoantibodies were positive Among the other relevant organ and non organ specific autoantibodies aromatic Lamino acid decarboxylase ADDC autoantibodies and antitryptophan hydroxylase autoantibodies were positive The patient also presented polyuria and polydypsia with diabetes insipidus Because of the presence of two diagnostic criteria of APS1 mutations in the autoimmune regulator gene AIRE were performed which revealed the presence of a novel mutation c1314 1326 del 13/insGT in exon 11 In conclusion the diagnosis of APECED should be suspected in any child with minimal hypertransaminasemia antimicrosomal autoantibodies and Candida albicans onychosis

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