Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives.

Marcacci, Matteo; Ricci, Andrea; Cuoghi, Chiara; Marchini, Stefano; Pietrangelo, Antonello; Ventura, Paolo

Marcacci, Matteo; Ricci, Andrea; Cuoghi, Chiara; Marchini, Stefano; Pietrangelo, Antonello; Ventura, Paolo.

Afiliação

Marcacci M; Department of Surgical and Medical Sciences for Children and Adults, Internal Medicine Unit, University of Modena and Reggio Emilia, Via del Pozzo 71, 41124, Modena, Italy.
Ricci A; Department of Surgical and Medical Sciences for Children and Adults, Internal Medicine Unit, University of Modena and Reggio Emilia, Via del Pozzo 71, 41124, Modena, Italy.
Cuoghi C; Department of Surgical and Medical Sciences for Children and Adults, Internal Medicine Unit, University of Modena and Reggio Emilia, Via del Pozzo 71, 41124, Modena, Italy.
Marchini S; Department of Surgical and Medical Sciences for Children and Adults, Internal Medicine Unit, University of Modena and Reggio Emilia, Via del Pozzo 71, 41124, Modena, Italy.
Pietrangelo A; Department of Surgical and Medical Sciences for Children and Adults, Internal Medicine Unit, University of Modena and Reggio Emilia, Via del Pozzo 71, 41124, Modena, Italy.
Ventura P; Department of Surgical and Medical Sciences for Children and Adults, Internal Medicine Unit, University of Modena and Reggio Emilia, Via del Pozzo 71, 41124, Modena, Italy. paoloven@unimore.it.

Orphanet J Rare Dis ; 17(1): 160, 2022 04 07.

Article em En | MEDLINE | ID: mdl-35392955

Assuntos

Porfiria Aguda Intermitente; Porfirias Hepáticas; Porfirias; Criança; Feminino; Humanos; Dor/etiologia; Sintase do Porfobilinogênio/deficiência; Sintase do Porfobilinogênio/uso terapêutico; Porfiria Aguda Intermitente/diagnóstico; Porfiria Aguda Intermitente/terapia; Porfirias/complicações; Porfirias/diagnóstico; Porfirias Hepáticas/diagnóstico; Porfirias Hepáticas/tratamento farmacológico; Qualidade de Vida

Palavras-chave

Abdominal pain; Acute hepatic porphyria; Aminolaevulinic acid; Delayed diagnosis; Givosiran; Hereditary diseases; Neuropathy; Porphobilinogen; Porphyrias; SiRNA

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Porfirias / Porfirias Hepáticas / Porfiria Aguda Intermitente Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Child / Female / Humans Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália

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