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Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias
The porphyrias are a group of disorders characterized by an enzyme deficiency in the heme biosynthetic pathway. These can be classified into either erythropoietic or hepatic forms depending on the site of the major enzyme deficiency. The diagnosis of acute porphyrias, however, can be very challengin...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3583083/ https://www.ncbi.nlm.nih.gov/pubmed/23476835 http://dx.doi.org/10.1155/2013/628602 |
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author | Trier, Henry Krishnasamy, Vikram P. Kasi, Pashtoon Murtaza |
author_facet | Trier, Henry Krishnasamy, Vikram P. Kasi, Pashtoon Murtaza |
author_sort | Trier, Henry |
collection | PubMed |
description | The porphyrias are a group of disorders characterized by an enzyme deficiency in the heme biosynthetic pathway. These can be classified into either erythropoietic or hepatic forms depending on the site of the major enzyme deficiency. The diagnosis of acute porphyrias, however, can be very challenging due to overlapping features amongst the various types. Initial suspicion is based on a myriad of clinical manifestations, which then are confirmed by laboratory testing where available. Genetic testing is now also available for the different types of porphyrias, aiding in the definitive diagnosis. Here, we present a challenging case of porphyria in a patient with end-stage renal disease and present the diagnostic challenges associated with the case and the ways forward. |
format | Online Article Text |
id | pubmed-3583083 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-35830832013-03-09 Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias Trier, Henry Krishnasamy, Vikram P. Kasi, Pashtoon Murtaza Case Rep Hematol Case Report The porphyrias are a group of disorders characterized by an enzyme deficiency in the heme biosynthetic pathway. These can be classified into either erythropoietic or hepatic forms depending on the site of the major enzyme deficiency. The diagnosis of acute porphyrias, however, can be very challenging due to overlapping features amongst the various types. Initial suspicion is based on a myriad of clinical manifestations, which then are confirmed by laboratory testing where available. Genetic testing is now also available for the different types of porphyrias, aiding in the definitive diagnosis. Here, we present a challenging case of porphyria in a patient with end-stage renal disease and present the diagnostic challenges associated with the case and the ways forward. Hindawi Publishing Corporation 2013 2013-02-12 /pmc/articles/PMC3583083/ /pubmed/23476835 http://dx.doi.org/10.1155/2013/628602 Text en Copyright © 2013 Henry Trier et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Trier, Henry Krishnasamy, Vikram P. Kasi, Pashtoon Murtaza Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias |
title | Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias |
title_full | Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias |
title_fullStr | Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias |
title_full_unstemmed | Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias |
title_short | Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias |
title_sort | clinical manifestations and diagnostic challenges in acute porphyrias |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3583083/ https://www.ncbi.nlm.nih.gov/pubmed/23476835 http://dx.doi.org/10.1155/2013/628602 |
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