P. H Magnin

Studies on the excretion pattern of porphyrins and its use as a tool for diagnosing both symptomatic and asymptomatic cases of porphyria cutanea tarda

Abstract 1. 1. A family investigation was performed in eleven cases of Porphyria Cutanea Tarda (PCT). 2. 2. By using clinical findings, quantitative measurements and thin layer chromatography (TLC) of urinary porphyrins, overt and subclinical PCT patients have been identified. 3. 3. In the overt type, skin manifestations are present, excretion of urinary porphyrins is increased and the TLC pattern of porphyrins in urine is characteristic for PCT. 4. 4. In the subclinical type, patients have no clinical symptoms, excretion of porphyrins in urine might be normal or enhanced and TLC pattern of urinary porphyrins is typical for PCT. 5. 5. By applying these criteria a clear distinction between hereditary and non-hereditary PCT was possible. 6. 6. Among the 11 families studied, in four families where PCT was hereditary, four members have the overt type and ten relatives the subclinical type. 7. 7. In seven families where PCT was non-hereditary only the propositus has overt PCT and not a single relative showed any clinical or biochemical abnormality.