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Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.
Garelli, S; Dalla Costa, M; Sabbadin, C; Barollo, S; Rubin, B; Scarpa, R; Masiero, S; Fierabracci, A; Bizzarri, C; Crinò, A; Cappa, M; Valenzise, M; Meloni, A; De Bellis, A M; Giordano, C; Presotto, F; Perniola, R; Capalbo, D; Salerno, M C; Stigliano, A; Radetti, G; Camozzi, V; Greggio, N A; Bogazzi, F; Chiodini, I; Pagotto, U; Black, S K; Chen, S; Rees Smith, B; Furmaniak, J; Weber, G; Pigliaru, F; De Sanctis, L; Scaroni, C; Betterle, C.
Afiliación
  • Garelli S; Endocrine Unit, Department of Medicine (DIMED), University of Padua, Via Ospedale Civile 105, 35128, Padua, Italy.
  • Dalla Costa M; Unit of Internal Medicine, Ospedale dell'Angelo, Mestre-Venice, Italy.
  • Sabbadin C; Endocrine Unit, Department of Medicine (DIMED), University of Padua, Via Ospedale Civile 105, 35128, Padua, Italy.
  • Barollo S; Unit of Internal Medicine, Ospedale di Feltre, Belluno, Italy.
  • Rubin B; Endocrine Unit, Department of Medicine (DIMED), University of Padua, Via Ospedale Civile 105, 35128, Padua, Italy.
  • Scarpa R; Endocrine Unit, Department of Medicine (DIMED), University of Padua, Via Ospedale Civile 105, 35128, Padua, Italy.
  • Masiero S; Endocrine Unit, Department of Medicine (DIMED), University of Padua, Via Ospedale Civile 105, 35128, Padua, Italy.
  • Fierabracci A; Endocrine Unit, Department of Medicine (DIMED), University of Padua, Via Ospedale Civile 105, 35128, Padua, Italy.
  • Bizzarri C; Endocrine Unit, Department of Medicine (DIMED), University of Padua, Via Ospedale Civile 105, 35128, Padua, Italy.
  • Crinò A; Infectivology and Clinical Trials Research Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Cappa M; Endocrine Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Valenzise M; Endocrine Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Meloni A; Endocrine Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • De Bellis AM; Unit of Pediatrics, Department of Adulthood and Childhood Human Pathology, University of Messina, Messina, Italy.
  • Giordano C; Ospedale Microcitemico and Dipartimento di Scienze Biomediche e Biotecnologiche, University of Cagliari, Cagliari, Italy.
  • Presotto F; Unit of Endocrinology and Metabolic Diseases, Department of Advanced Medical and Surgical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Perniola R; Endocrine Unit, Department of Biomedical Internal and Specialist Medicine (DIBIMIS), Palermo University, Palermo, Italy.
  • Capalbo D; Unit of Internal Medicine, Ospedale dell'Angelo, Mestre-Venice, Italy.
  • Salerno MC; Department of Pediatrics, Regional Hospital Vito Fazzi, Lecce, Italy.
  • Stigliano A; Department of Mother and Child, University Federico II, Naples, Italy.
  • Radetti G; Pediatric Section, Department of Translational Medical Sciences, University Federico II, Naples, Italy.
  • Camozzi V; Endocrinology, Department of Clinical and Molecular Medicine, Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy.
  • Greggio NA; Marienklinik, General Hospital, Bolzano, Italy.
  • Bogazzi F; Endocrine Unit, Department of Medicine (DIMED), University of Padua, Via Ospedale Civile 105, 35128, Padua, Italy.
  • Chiodini I; EU-Endo-ERN Advisory Board Member, National Coordinator Endo-ERN Pediatric (SIEDP), Padua, Italy.
  • Pagotto U; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Black SK; Unit of Bone Metabolism Diseases and Diabetes, Istituto Auxologico Italiano, Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.
  • Chen S; Unit of Endocrinology and Prevention and Care of Diabetes, Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
  • Rees Smith B; FIRS Laboratories RSR Ltd, Cardiff, UK.
  • Furmaniak J; FIRS Laboratories RSR Ltd, Cardiff, UK.
  • Weber G; FIRS Laboratories RSR Ltd, Cardiff, UK.
  • Pigliaru F; FIRS Laboratories RSR Ltd, Cardiff, UK.
  • De Sanctis L; Unit of Pediatrics, Vita-Salute San Raffaele University, IRCSS San Raffaele Scientific Institute, Milan, Italy.
  • Scaroni C; Endocrine Unit, Azienda Ospedaliera-Universitaria of Cagliari, Cagliari, Italy.
  • Betterle C; Pediatric Endocrinology, Department of Public Health and Pediatric Sciences, Regina Margherita Children's Hospital, University of Turin, Turin, Italy.
J Endocrinol Invest ; 44(11): 2493-2510, 2021 Nov.
Article en En | MEDLINE | ID: mdl-34003463
BACKGROUND: Autoimmune Polyglandular Syndrome type 1 (APS-1) is a rare recessive inherited disease, caused by AutoImmune Regulator (AIRE) gene mutations and characterized by three major manifestations: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CH) and Addison's disease (AD). METHODS: Autoimmune conditions and associated autoantibodies (Abs) were analyzed in 158 Italian patients (103 females and 55 males; F/M 1.9/1) at the onset and during a follow-up of 23.7 ± 15.1 years. AIRE mutations were determined. RESULTS: The prevalence of APS-1 was 2.6 cases/million (range 0.5-17 in different regions). At the onset 93% of patients presented with one or more components of the classical triad and 7% with other components. At the end of follow-up, 86.1% had CH, 77.2% AD, 74.7% CMC, 49.5% premature menopause, 29.7% autoimmune intestinal dysfunction, 27.8% autoimmune thyroid diseases, 25.9% autoimmune gastritis/pernicious anemia, 25.3% ectodermal dystrophy, 24% alopecia, 21.5% autoimmune hepatitis, 17% vitiligo, 13.3% cholelithiasis, 5.7% connective diseases, 4.4% asplenia, 2.5% celiac disease and 13.9% cancer. Overall, 991 diseases (6.3 diseases/patient) were found. Interferon-ω Abs (IFNωAbs) were positive in 91.1% of patients. Overall mortality was 14.6%. The AIRE mutation R139X was found in 21.3% of tested alleles, R257X in 11.8%, W78R in 11.4%, C322fsX372 in 8.8%, T16M in 6.2%, R203X in 4%, and A21V in 2.9%. Less frequent mutations were present in 12.9%, very rare in 9.6% while no mutations in 11% of the cases. CONCLUSIONS: In Italy, APS-1 is a rare disorder presenting with the three major manifestations and associated with different AIRE gene mutations. IFNωAbs are markers of APS-1 and other organ-specific autoantibodies are markers of clinical, subclinical or potential autoimmune conditions.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores de Transcripción / Candidiasis Mucocutánea Crónica / Enfermedad de Addison / Interferón Tipo I / Poliendocrinopatías Autoinmunes / Hipoparatiroidismo Tipo de estudio: Diagnostic_studies / Etiology_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: J Endocrinol Invest Año: 2021 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores de Transcripción / Candidiasis Mucocutánea Crónica / Enfermedad de Addison / Interferón Tipo I / Poliendocrinopatías Autoinmunes / Hipoparatiroidismo Tipo de estudio: Diagnostic_studies / Etiology_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: J Endocrinol Invest Año: 2021 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Italia