[Hereditary porphyria and acquired porphyria in the child. Five case reports].
Two cases of inherited porphyrinopathies and three cases of acquired porphyrinopathies are described. The two inherited cases were cutaneous porphyrias with 50% reduction of enzyme activities: one case of erythropoietic protoporphyria in a 2 year-old male and one case of familial cutaneous porphyria in a 7 year-old boy. The three cases of acquired porphyrinopathy included one case of lead poisoning in a 3 year-old boy and 2 cases of hereditary tyrosinemia in 1 and 2 year-old infants. Urinary and erythrocytes porphyrins and precursors (5 aminolevulinic acid and porphobilinogen) levels were used for diagnosis and to follow the response to treatment.
Laboratoire de biochimie, faculté de médecine et Laboratoire de biologie, hôpital d'enfants, Marseille, France.
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Aquaron
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007854:Lead / Q000493:pharmacokinetics; D007855:Lead Poisoning / Q000175:diagnosis*; D008297:Male; D017119:Porphyria Cutanea Tarda / Q000139:chemically induced / Q000175:diagnosis / Q000235:genetics*; D017092:Porphyria, Erythropoietic / Q000139:chemically induced / Q000175:diagnosis / Q000235:genetics*; D011166:Porphyrins / Q000097:blood; D011524:Protoporphyrins / Q000097:blood; D014443:Tyrosine / Q000097:blood*
D011166:Porphyrins; D011524:Protoporphyrins; D007854:Lead; D014443:Tyrosine
Porphyries héréditaires et porphyries acquises chez l'enfant. A propos de cinq cas.