Effects of Phlebotomy on Urinary Porphyrin Pattern and Liver Histology in Patients with Porphyria Cutanea Tarda

Padova, C. Di; Marchesi, L.; Cainelli, T.; Gori, Giulia; Podenzani, S; Rovagnati, P; Rizzardini, Milena; Cantoni, L

doi:10.1097/00000441-198301000-00001

Cited by 23 publications

(11 citation statements)

References 27 publications

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“…Though blisters are the most common skin manifestations of PCT, other skin manifestations like hyperpigmentation (as if they are getting a tan) and hypertrichosis (mainly on top of the cheeks) also occur. PCT is a chronic condition, with external symptoms often subsiding and recurring as a result of a number of factors [3]. In the 20% of cases, porphyria cutanea tarda is inherited as an autosomal dominant pattern [3].…”

Section: Discussionmentioning

confidence: 99%

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A Young Bangladeshi Male with Porphyria Cutanea Tarda

Rsr¹,

Khan²

2013

JCR

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Abstract:Porpyhria cutanea tarda is an uncommon disease of Bangladesh. Confirmatory diagnosis by biochemical analysis is hardly available here. An Asian, Bangladeshi, 30 year old, normotensive, nondiabetic male, presented with the complaints of frequent development of blisters containing clear fluid over the sun exposed areas of the body. Blisters healed by scarring and pigmentation. The patient also had complaints of photosensitivity, sclerodermatous skin changes and hypertrichosis. Urine examination under Wood's lamp showed coral red color suggesting porphyria cutanea tarda.

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Section: Discussionmentioning

confidence: 99%

“…PCT is a chronic condition, with external symptoms often subsiding and recurring as a result of a number of factors [3]. In the 20% of cases, porphyria cutanea tarda is inherited as an autosomal dominant pattern [3].…”

Section: Discussionmentioning

confidence: 99%

A Young Bangladeshi Male with Porphyria Cutanea Tarda

Rsr¹,

Khan²

2013

JCR

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“…The requirement for ferrous rather than ferric iron to generate the inhibitor of UROD may explain the observation that the iron overload of hereditary hemochromatosis (a risk factor for PCT) where iron is largely present in the ferric form is quite common yet PCT is quite rare [8]. Phlebotomy may be effective because it is able to preferentially deplete ferrous iron, however, in with this therapy hepatocyte iron is not completely depleted [1; 33]. Alcohol abuse is a significant risk factor for PCT.…”

Section: Discussionmentioning

confidence: 99%

Uroporphyria in the Cyp1a2−/− mouse

Phillips

Kushner

Bergonia

et al. 2011

Blood Cells, Molecules, and Diseases

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Cytochrome P4501A2 (Cyp1a2) is important in the development of uroporphyria in mice, a model of porphyria cutanea tarda in humans. Heretofore, mice homozygous for the Cyp1a2−/− mutation do not develop uroporphyria with treatment regimens that result in uroporphyria in wild-type mice. Here we report uroporphyria development in Cyp1a2−/− mice additionally null for both alleles of the hemochromatosis (Hfe) gene and heterozygous for deletion of the uroporphyrinogen decarboxylase (Urod) gene (genotype: Cyp1a2−/−; Hfe−/−;Urod+/−), demonstrating that upon adding porphyria-predisposing genetic manipulations, Cyp1a2 is not essential. Cyp1a2−/−; Hfe−/−;Urod+/− mice were treated with various combinations of an iron-enriched diet, parenteral iron-dextran, drinking water containing δ-aminolevulinic acid and intraperitoneal Aroclor 1254 (a polychlorinated biphenyl mixture) and analyzed for uroporphyrin accumulation. Animals fed an iron-enriched diet alone did not develop uroporphyria but uroporphyria developed with all treatments that included iron supplementation and δ-aminolevulinic acid, even with a regimen without Aroclor 1254. Hepatic porphyrin levels correlated with low UROD activity and high levels of an inhibitor of UROD but marked variability in the magnitude of the porphyric response was present in all treatment groups. Gene expression profiling revealed no major differences between genetically identical triple cross mice exhibiting high and low magnitude porphyric responses from iron-enriched diet and iron-dextran supplementation, and δ-aminolevulinic acid. Even though the variation in porphyric response did not parallel the hepatic iron concentration, the results are compatible with the presence of a Cyp1a2-independent, iron-dependent pathway for the generation of uroporphomethene, the UROD inhibitor required for the expression of uroporphyria in mice and PCT in humans.

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“…The skin and the liver are the two main organs affected by the disease. Chronic liver disease with steatosis, fibrosis, and cirrhotic changes are the next common manifestation that may occur [32]. …”

Section: Skin Manifestations Of Chronic Hcv Infection Porphyria Cutanmentioning

confidence: 99%

Skin Manifestations of Hepatitis C in Chronic Renal Disease Patient

Magbri¹

2017

Acta Psychopathol

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Effects of Phlebotomy on Urinary Porphyrin Pattern and Liver Histology in Patients with Porphyria Cutanea Tarda

Cited by 23 publications

References 27 publications

A Young Bangladeshi Male with Porphyria Cutanea Tarda

A Young Bangladeshi Male with Porphyria Cutanea Tarda

Uroporphyria in the Cyp1a2−/− mouse

Skin Manifestations of Hepatitis C in Chronic Renal Disease Patient

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