[Hereditary coproporphyria. 7 cases].
Hereditary coprophyria, known since 1955, is a rare variety of hepatic porphyria. The clinical picture is similar to that of acute intermittent porphyria with certain minor differences; neurological manifestations being rarer in particular. The essential biological characteristic is the massive excretion, in the urine and faeces, of coproporphyrins whilst the excretion of porphobilinogen and delta-amino-laevulinic acid is only slightly increased. As in acute intermittent porphyria, certain medications have an adverse effect, especially the barbiturates. The exact nature of the biochemical lesion is not understood but its hereditary nature has been demonstrated. 25 families have been reported in the literature up to the present time. The authors report two cases of hereditary coproporphyria with peripheral paralysis and respiratory failure, the outcome being fatal in one case. Study of the families led to the discovery of 3 other cases in the second family and 2 latent forms in the first.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003306:Coproporphyrins / Q000378:metabolism*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008099:Liver / Q000648:ultrastructure; D008107:Liver Diseases / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009461:Neurologic Manifestations; D010375:Pedigree; D011164:Porphyrias / Q000235:genetics* / Q000473:pathology; D011166:Porphyrins / Q000378:metabolism*
D003306:Coproporphyrins; D011166:Porphyrins
La coproporphyrie héréditaire. Sept observations