Erythropoietic uroporphyria of Gunther first presenting at 58 years with positive family studies.
Erythropoietic uroporphyria of Gunther was seen in a 58-year-old man who presented with photosensitivity, haemolytic anaemia, and classical laboratory findings. Family studies showed five asymptomatic relatives with erythrocyte uroporphyrin concentrations in the probable latent heterozygote range.
D000743:Anemia, Hemolytic / Q000150:complications; D001855:Bone Marrow Diseases / Q000150:complications; D004920:Erythropoiesis; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010787:Photosensitivity Disorders / Q000151:congenital*; D011164:Porphyrias / Q000151:congenital* / Q000235:genetics