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

Abstract Acute hepatic porphyrias (AHPs) are a family of four rare genetic diseases resulting from a deficiency in one of the enzymes involved in heme biosynthesis. AHP patients can experience potentially life-threatening acute attacks, characterized by severe abdominal pain, along with other signs...

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Hauptverfasser:	Matteo Marcacci, Andrea Ricci, Chiara Cuoghi, Stefano Marchini, Antonello Pietrangelo, Paolo Ventura
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	BMC 2022-04-01
Schriftenreihe:	Orphanet Journal of Rare Diseases
Schlagworte:	Acute hepatic porphyria Porphyrias Givosiran SiRNA Neuropathy Hereditary diseases
Online-Zugang:	https://doi.org/10.1186/s13023-022-02314-9
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