Subject(s)
Calculi/analysis , Lipids/analysis , Porphyrins/analysis , Proteins/analysis , Trace Elements/analysis , HumansSubject(s)
Porphyrias/genetics , Skin Diseases/genetics , Adult , Female , Humans , Pedigree , Porphyrias/metabolism , Porphyrins/metabolism , Skin Diseases/metabolismABSTRACT
In order to confirm the genetic character of porphyria cutanea tarda (PCT), the quantitative and qualitative porphyrin excretion from 56 unrelated PCT patients and 259 relatives was analyzed by a sensitive fluorimetric thin-layer chromatographic technique. Porphyrin excretion abnormalities were observed in 111 (35.24%) of the 315 subjects studied. Of the 259 relatives, 55 (21.24%) suffered from manifest (24 cases) or subclinical (31 cases) PCT. The relatives from the older generation or a generation similar to the propositi were more frequently affected than those from a younger generation. A clear family incidence was observed in 32 families, while PCT was apparently limited to the propositi in the remaining 24. It is discussed whether these latter families correspond to the so-called "sporadic" type of PCT or include porphyric gene carriers lacking biochemical expression of the disease. While the measurements of the activity of the defective enzyme (uroporphyrinogen decarboxylase) for the genetic research of PCT turned out to be impracticable in hepatic tissue and contradictory in erythrocytes, our study confirms that the familial character of this disease may be revealed by the chromatographic analysis of the porphyrin excretion pattern.
Subject(s)
Porphyrias/genetics , Skin Diseases/genetics , Adolescent , Adult , Aged , Child , Child, Preschool , Chromatography, Thin Layer , Female , Genes, Dominant , Humans , Infant , Male , Middle Aged , Pedigree , Porphyrias/metabolism , Porphyrins/analysis , Skin Diseases/metabolismABSTRACT
Gel filtration and spectrophotometric studies revealed that uroporphyrin, heptacarboxylic-, and pentacarboxylic-porphyrins form in vitro complexes with chloroquine.
Subject(s)
Chloroquine/metabolism , Porphyrins/metabolism , Chromatography, Gel , Humans , Porphyrias/metabolism , Skin Diseases , Spectrophotometry , Uroporphyrins/metabolismABSTRACT
It has been suggested that the urinary profile of porphyrins excreted by female patients with estrogen-induced porphyria cutanea tarda is peculiar in that heptacarboxylic porphyrin equals or exceeds uroporphyrin. The chromatographic pattern of urinary porphyrin excretion was studied in nine females with porphyria cutanea tarda precipitated by estrogens, 129 porphyric males, and nine females, whose porphyria was not hormone-induced. Both female porphyric groups showed absolutely the same urinary chromatographic pattern and looked quite similar to the pattern observed in male patients. None of our female porphyric patients, whether treated with estrogens or not, showed percentage values for the heptacarboxylic porphyrin higher or equal to the uroporphyrin values. Our results do not support the hypothesis that the profile of urinary porphyrin excretion found in estrogen-induced porphyria cutanea tarda is atypical.
