[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.
Aquaron
R
R
Laboratoire de biochimie, faculté de médecine et Laboratoire de biologie, hôpital d'enfants, Marseille, France.
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.