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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...

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Detalles Bibliográficos
Autores principales: Trier, Henry, Krishnasamy, Vikram P., Kasi, Pashtoon Murtaza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
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.
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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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