[Gunther's congenital erythropoietic porphyria in an 8-month old girl (author's transl)].
A typical case of congenital erythropoietic porphyria in a 8 month old girl is reported (photosensitive blistering syndrome, hypertrichosis; erythrodontia; fluorescence of urine, teeth, erythrocytes and myeloblasts; splenomegaly; anaemia). Porphyrins, isomers I, were present in urine and blood. In faeces a porphyrin-X-like substance migrating as PX was detected; this porphyrin was finally identified as CP I unusually difficult to extract because of the presence of a banding and fluorescence quenching agent probably of exogenous origin. The usual methods are not always able to extract and to identify the faecal porphyrins.
D001855:Bone Marrow Diseases / Q000151:congenital / Q000378:metabolism / Q000473:pathology; D004920:Erythropoiesis; D005243:Feces / Q000032:analysis; D005260:Female; D006801:Humans; D007223:Infant; D010787:Photosensitivity Disorders / Q000378:metabolism / Q000473:pathology; D011164:Porphyrias / Q000151:congenital* / Q000378:metabolism / Q000473:pathology; D011166:Porphyrins / Q000378:metabolism; D013577:Syndrome
D011166:Porphyrins
Porphyrie érythropoïétique congénitale de Gunther chez une fillette de huit mois