Porphyrias are a group of diseases that are clinically and genetically heterogeneous and originate mostly from inherited dysfunctions of specific enzymes involved in heme biosynthesis. Such dysfunctions result in the excessive production and excretion of the intermediates of the heme biosynthesis pathway in the blood, urine, or feces, and these intermediates are responsible for specific clinical presentations. Porphyrias continue to be underdiagnosed, although laboratory diagnosis based on the measurement of metabolites could be utilized to support clinical suspicion in all symptomatic patients. Moreover, the measurement of enzymatic activities along with a molecular analysis may confirm the diagnosis and are, therefore, crucial for identifying pre-symptomatic carriers. The present review provides an overview of the laboratory assays used most commonly for establishing the diagnosis of porphyria. This would assist the clinicians in prescribing appropriate diagnostic testing and interpreting the testing results.

Laboratory diagnosis of porphyria / E. Di Pierro, M. De Canio, R. Mercadante, M. Savino, F. Granata, D. Tavazzi, A.M. Nicolli, A. Trevisan, S. Marchini, S. Fustinoni. - In: DIAGNOSTICS. - ISSN 2075-4418. - 11:8(2021 Jul 26), pp. 1343.1-1343.24. [10.3390/diagnostics11081343]

Laboratory diagnosis of porphyria

E. Di Pierro
;
R. Mercadante;D. Tavazzi;S. Fustinoni
2021-07-26

Abstract

Porphyrias are a group of diseases that are clinically and genetically heterogeneous and originate mostly from inherited dysfunctions of specific enzymes involved in heme biosynthesis. Such dysfunctions result in the excessive production and excretion of the intermediates of the heme biosynthesis pathway in the blood, urine, or feces, and these intermediates are responsible for specific clinical presentations. Porphyrias continue to be underdiagnosed, although laboratory diagnosis based on the measurement of metabolites could be utilized to support clinical suspicion in all symptomatic patients. Moreover, the measurement of enzymatic activities along with a molecular analysis may confirm the diagnosis and are, therefore, crucial for identifying pre-symptomatic carriers. The present review provides an overview of the laboratory assays used most commonly for establishing the diagnosis of porphyria. This would assist the clinicians in prescribing appropriate diagnostic testing and interpreting the testing results.
porphyria; ALA (5-aminolevulinic acid); PBG (porphobilinogen); porphyrins; HPLC (high-pressure liquid chromatography); MLPA (multiplex ligation-dependent probe amplification); NGS (next-generation sequencing); EPNET (european porphyria network); diagnosis
Settore MED/09 - Medicina Interna
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/859854
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