Statistics from Altmetric.com
Mutations in the UROD gene are demonstrable in approximately only one quarter of all familial porphyria cutanea tarda (PCT) cases with a typical 50% decrease in the catalytic activity of hepatic UROD.1 In the remaining 75% of cases, there is no underlying mutation in the UROD gene, and the disease results from an acquired inhibition of hepatic UROD, referred to as sporadic PCT.
Of importance is a near-universal association between PCT and raised hepatic iron concentrations. Most patients with PCT will have evidence of direct or indirect iron overload, and PCT appears not to develop in the absence of adequate iron stores.1 ,2 Iron alone is insufficient for the precipitation of PCT. It is, however, clear that a complex gene-chemical-environmental interaction is pivotal to the process.2
Our study focused on the regulatory (promoter) regions of four genes that play a significant role in iron homeostasis: ceruloplasmin (CP), cytochrome b reductase 1 (CYBRD1), hepcidin antimicrobial peptide (HAMP) and solute carrier family 40 member A1 (SLC40A1).
Materials and methods
Blood samples were collected from 74 unrelated South African patients (39 male, 35 female) who presented with clinically expressed PCT. Ethnically, the study group included 15 indigenous African patients, eight males (mean age of onset: 49.88±21 years), seven females …