Hereditary Coproporphyria in Which the Patient's Course Improved after the Discontinuation of Givosiran.

Autor: Ozaki N; Division of Endocrinology, Japanese Red Cross Aichi Medical Center Nagoya Daiichi Hospital, Japan., Hayashi Y; Division of Endocrinology, Japanese Red Cross Aichi Medical Center Nagoya Daiichi Hospital, Japan., Kiyota A; Division of Endocrinology, Japanese Red Cross Aichi Medical Center Nagoya Daiichi Hospital, Japan.
Jazyk: angličtina
Zdroj: Internal medicine (Tokyo, Japan) [Intern Med] 2024 Nov 01; Vol. 63 (21), pp. 2961-2964. Date of Electronic Publication: 2024 Mar 11.
DOI: 10.2169/internalmedicine.3284-23
Abstrakt: Hereditary coproporphyria (HCP) is caused by a partial deficiency of coproporphyrinogen oxidase during heme biosynthesis. Givosiran is approved for the treatment of acute hepatic porphyria. We herein report the case of a 47-year-old woman with HCP. Monthly givosiran administration improved her subjective symptoms and reduced her δ-aminolevulinic acid (ALA) and porphobilinogen (PBG) levels to the normal range. However, givosiran was discontinued after six months due to a decreased renal function. The patient's ALA and PBG levels remained within the normal ranges, and her HCP-related symptoms resolved more than 2 years after the discontinuation of givosiran.
Databáze: MEDLINE