BIRGITTA HAEGER-ARONSEN, M.D.; GEORGE STATHERS, M.B.; GÖSTA SWAHN, M.D.
Hereditary coproporphyria is described in a Swedish family. The proband, a 13-year-old girl, presented with an acute episode of abdominal pain precipitated by barbiturates given for epileptic seizures. Porphyrin investigations demonstrated porphyrin precursors and coproporphyrin III in the urine and coproporphyrin III in the feces, while later, when the patient was in remission, the urinary precursors returned to normal values. Studies of the proband's 39 maternal relatives revealed 13 persons with latent hereditary coproporphyria. The inheritance pattern strongly suggests that hereditary coproporphyria is transmitted as a non-sex-linked mendelian dominant. A hypothesis relating the disease to a structural defect in the mitochondrion is given.
HAEGER-ARONSEN B, STATHERS G, SWAHN G. Hereditary Coproporphyria: Study of a Swedish Family. Ann Intern Med. 1968;69:221–227. doi: 10.7326/0003-4819-69-2-221
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Published: Ann Intern Med. 1968;69(2):221-227.
Gastroenterology/Hepatology, Liver Disease.
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