[Acute hepatic porphyrias: pathophysiology and pathogenesis of acute attacks].
Rinsho Shinkeigaku
; 64(1): 8-16, 2024 Jan 20.
Article
en Ja
| MEDLINE
| ID: mdl-38092415
ABSTRACT
Heme is an iron-containing molecule essential for virtually all living organisms. However, excessive heme is cytotoxic, necessitating tight regulation of intracellular heme concentration. The acute hepatic porphyrias (AHPs) are a group of rare inborn errors of heme biosynthesis that are characterized by episodic acute neurovisceral attacks that are precipitated by various factors. The AHPs are often misdiagnosed, as the acute attack symptom are non-specific and can be attributed to other more common causes. Understanding how heme biosynthesis is dysregulated in AHP patients and the mechanism by which acute attacks are precipitated will aid in accurate and rapid diagnoses, and subsequently, appropriate treatment of these disorders. Therefore, this review article will focus on the biochemical and molecular changes that occur during an acute attack and present what is currently known regarding the underlying pathogenesis of acute attacks.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Porfirias Hepáticas
Límite:
Humans
Idioma:
Ja
Revista:
Rinsho Shinkeigaku
Año:
2024
Tipo del documento:
Article