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Recurrent symptoms of acute intermittent porphyria after biochemical normalization with givosiran—An ongoing clinical conundrum

A 47‐year‐old woman with acute intermittent porphyria (AIP) has had recurring symptoms after achieving biochemical normalization of her urinary 5‐aminolevulinic acid (ALA), porphobilinogen (PBG), and total porphyrins with givosiran. She has had normal liver tests, mildly decreased renal function, an...

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Detalles Bibliográficos
Autores principales: Ma, Christopher D., Faust, Denise, Bonkovsky, Herbert L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9981411/
https://www.ncbi.nlm.nih.gov/pubmed/36873084
http://dx.doi.org/10.1002/jmd2.12354
Descripción
Sumario:A 47‐year‐old woman with acute intermittent porphyria (AIP) has had recurring symptoms after achieving biochemical normalization of her urinary 5‐aminolevulinic acid (ALA), porphobilinogen (PBG), and total porphyrins with givosiran. She has had normal liver tests, mildly decreased renal function, and sustained normal urinary ALA, PBG, and porphyrins with no rebound in her laboratory test results throughout treatment. She continues to tolerate monthly givosiran injections with no adverse effects, but she still experiences what she believes are acute porphyric attacks every 1–2 months.