ABSTRACT
Porphyria refers to a group of fascinating diseases from a metabolic and nutritional standpoint as it provides an example of how metabolic manipulation can be used for therapeutic purposes. It is characterized by defects in heme synthesis, particularly in the erythrocytes and liver. Specific enzymes involved in heme biosynthesis directly depend on adequate levels of vitamins and minerals in the tissues. Moreover, micronutrients that are required for producing succinyl CoA and other intermediates in the Krebs (TCA) cycle are indirectly necessary for heme metabolism. This review summarizes articles that describe the nutritional status, supplements intake, and dietary practices of patients affected by porphyria, paying special attention to the therapeutic use of nutrients that may help or hinder this group of diseases.
Subject(s)
Nutrients/metabolism , Nutritional Status/genetics , Porphyrias/metabolism , Dietary Supplements , Humans , Micronutrients/metabolism , Micronutrients/therapeutic use , Minerals/metabolism , Minerals/therapeutic use , Porphyrias/diet therapy , Porphyrias/genetics , Porphyrias/pathology , Vitamins/metabolism , Vitamins/therapeutic useABSTRACT
A 59-year-old woman undergoing narrowband UVB phototherapy for treatment of psoriasis presented suddenly with tense blisters on both hips. The blisters were asymptomatic and disappeared within 24 hours. Histopathology together with a negative porphyrin screen made the diagnosis of pseudoporphyria. Blood tests including a full blood count, urea and electrolytes, liver function tests and antinuclear autoantibodies were normal. The patient was otherwise healthy; there was no history of extensive sun exposure, sunbeds or medication with non-steroidal anti-inflammatory drugs. This presentation of pseudoporphyria secondary to narrowband UVB radiation is unusual, as UVB radiation is not known to be associated with pseudoporphyria.
Subject(s)
Porphyrias/diagnosis , Psoriasis/radiotherapy , Ultraviolet Rays/adverse effects , Ultraviolet Therapy/adverse effects , Diagnosis, Differential , Female , Humans , Middle Aged , Porphyrias/etiology , Porphyrias/pathology , Psoriasis/pathologyABSTRACT
Three weeks after a single dose of iron-dextran and Aroclor 1254, mice maintained continuously on delta-aminolevulinic acid supplemented drinking water showed significantly elevated levels of hepatic uroporphyrin and depressed (25% of normal) uroporphyrinogen decarboxylase (URO-D) activity. Depressed URO-D activity was paralleled by the ability of heat denatured cytosol to inhibit rhURO-D activity. Mice heterozygous for a targeted disruption at the URO-D locus (URO-D+/-) exhibited half the URO-D activity of homozygous controls prior to treatment. After treatment, these animals showed URO-D activity and rhURO-D inhibitory activity comparable to similarly treated wild type (URO-D +/+) mice but with significantly greater uroporphyrin accumulation. With only 10 days of treatment, URO-D +/- but not URO-D +/+ mice showed changes similar in magnitude to those seen after 21 days. Prior to treatment, URO-D genotype did not influence overall hepatic P450 concentration in either sex and there was no significant difference between sexes. The treatment regimen significantly elevated P450 in animals of either URO-D genotype and in both sexes, although the induction response at the 10-day point was attenuated in URO-D +/- mice. From differences in the CO absorbance maximum, and by P450 activity analysis, this attenuated induction response resulted from an attenuation of the CYP2B not the CYP1A induction.
Subject(s)
Gene Deletion , Heterozygote , Porphyrias/pathology , Uroporphyrinogen Decarboxylase/genetics , Animals , Female , Male , Mice , Mice, Inbred C57BL , Porphyrias/genetics , Porphyrins/metabolismABSTRACT
Pseudoporphyria with formation of bullae and vulnerability of skin exposed to light, particularly the backs of the hands, may be provoked medicinally by nalidixinic acid, tetracyclin, nabumeton, pyridoxine, dapsone and high-dosage furosemide and by excessive use of solaria. The present article demonstrates that the condition may also be precipitated by quinidine and ibuprophen.
Subject(s)
Porphyrias/pathology , Adult , Female , Humans , Ibuprofen/adverse effects , Male , Middle Aged , Naproxen/adverse effects , Porphyrias/chemically induced , Porphyrias/etiology , Quinidine/adverse effects , Skin Diseases/chemically induced , Skin Diseases/etiology , Skin Diseases/pathology , Ultraviolet Rays/adverse effectsABSTRACT
A case is presented of a 31-year-old white woman with necrotizing fasciitis. She had had a previous diagnosis of porphyria cutanea tarda that was manifested in part by bullous lesions on her forearms and hands. A soft tissue infection developed in her left hand and forearm in an area of bullous disease. After a delay of 8 days the diagnosis of necrotizing fasciitis was made. She recovered following surgical debridement, extensive fasciotomy, broad-spectrum antibiotic coverage, and hyperbaric oxygen therapy.