[Hepato-erythropoietic porphyria].
1995; National Institutes of Health; Volume: 122; Issue: 9 Linguagem: Inglês
Autores
O Boudghène-Stambouli, A Mérad-Boudia,
Tópico(s)Neonatal Health and Biochemistry
ResumoHepatoerythropoietic porphyria is a rare congenital form of porphyria with a biochemical pattern of porphyria cutanea tarda. The disease is caused by defect in uroporphyrinogen decarboxylase.A 3-year-old girl was born to healthy consanguineous parents. From birth she had bloody urine and developed photosensitivity with bullae at 1 year of age. Clinical examination revealed scars resulting from bullae, hypertrichosis of the face and members and abnormal pigmentation. Uroporphyrin and coproporphyrin levels in the urine and erythrocyte protoporphyrin level were elevated. Uroporphyrinogen decarboxylase activity was 37.5 p. 100 of the control, and was 82.5 p. 100 in the mother and normal in the father.This case of uroporphyrinogen decarboxylase deficiency in a child and her parents was not as severe as reported in other cases in the literature, confirming the heterogenous nature of hepatoerythropoietic porphyria. It is possible that in this case, the mutation was different than in previous cases.
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