Congenital erythropoietic porphyria: prenatal diagnosis and autopsy findings in two sibling fetuses.
Congenital erythropoietic porphyria is an autosomal recessive disease characterized by a deficiency of uroporphyrinogen III cosynthetase activity, with diffuse tissue accumulation of specific type I porphyrins. The diagnosis of this disease was made in two fetuses, who were siblings, and from a Caucasian nonconsanguinous family. The first fetus died in utero with hydrops fetalis and anemia, but without an etiopathogenic diagnosis. In the second case, the diagnosis was based on pink fluorescence of the amniotic fluid examined fortuitously in sunlight. DNA analysis showed that the fetus was heteroallelic for the mutation C73R. The autopsy showed brown skin, and at histological examination, porphyrin pigment was deposited in many tissues. Retrospectively, similar deposits were found in the tissues of the first fetus.
Daïkha-Dahmane
F
F
Service de Biologie du Développement, H pital Robert Debré, Faculté de Médecine Xavier Bichat, Paris, France.
Dommergues
M
M
Narcy
F
F
Gubler
M C
MC
Dumez
Y
Y
Gauthier
E
E
Nordmann
Y
Y
Nessmann
C
C
Terrasse
G
G
Muller
F
F
D000328:Adult; D000653:Amniotic Fluid; D001344:Autopsy; D004247:DNA / Q000032:analysis; D017809:Fatal Outcome; D005260:Female; D005453:Fluorescence; D005865:Gestational Age; D006801:Humans; D015160:Hydrops Fetalis / Q000209:etiology*; D009154:Mutation; D009679:Nuclear Family; D010858:Pigmentation; D017092:Porphyria, Erythropoietic / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D016216:Ultrasonography, Prenatal; D014577:Uroporphyrinogens / Q000235:genetics
D014577:Uroporphyrinogens; D004247:DNA