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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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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 |
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author | Ma, Christopher D. Faust, Denise Bonkovsky, Herbert L. |
author_facet | Ma, Christopher D. Faust, Denise Bonkovsky, Herbert L. |
author_sort | Ma, Christopher D. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9981411 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | John Wiley & Sons, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-99814112023-03-04 Recurrent symptoms of acute intermittent porphyria after biochemical normalization with givosiran—An ongoing clinical conundrum Ma, Christopher D. Faust, Denise Bonkovsky, Herbert L. JIMD Rep Case Reports 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. John Wiley & Sons, Inc. 2022-12-13 /pmc/articles/PMC9981411/ /pubmed/36873084 http://dx.doi.org/10.1002/jmd2.12354 Text en © 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Reports Ma, Christopher D. Faust, Denise Bonkovsky, Herbert L. Recurrent symptoms of acute intermittent porphyria after biochemical normalization with givosiran—An ongoing clinical conundrum |
title | Recurrent symptoms of acute intermittent porphyria after biochemical normalization with givosiran—An ongoing clinical conundrum |
title_full | Recurrent symptoms of acute intermittent porphyria after biochemical normalization with givosiran—An ongoing clinical conundrum |
title_fullStr | Recurrent symptoms of acute intermittent porphyria after biochemical normalization with givosiran—An ongoing clinical conundrum |
title_full_unstemmed | Recurrent symptoms of acute intermittent porphyria after biochemical normalization with givosiran—An ongoing clinical conundrum |
title_short | Recurrent symptoms of acute intermittent porphyria after biochemical normalization with givosiran—An ongoing clinical conundrum |
title_sort | recurrent symptoms of acute intermittent porphyria after biochemical normalization with givosiran—an ongoing clinical conundrum |
topic | Case Reports |
url | 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 |
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