[The management of a case of congenital erythropoetic prophyria (author's transl)].
The present condition of a now 18-year-old boy with congenital erythropoetic porphyria is reported. The case had been first described 15 years ago in this journal (Heilmeyer, L., et al.: Dtsch. med. Wschr.88 [1963], 2449). Physical and mental development has been normal. He has been on a maintenance dose of beta-carotene, 50 mg daily, for the last four years except during the winter months. This has allowed him to be in the open air in normal clothing. At the same time, the improvement in light tolerance has enable him to pursue normally the work of a biology laboratory technician. The genetic features are such that neither marriage nor children need be advised against.
D000293:Adolescent; D001855:Bone Marrow Diseases / Q000188:drug therapy; D002338:Carotenoids / Q000008:administration & dosage / Q000627:therapeutic use; D002657:Child Development; D004920:Erythropoiesis; D005500:Follow-Up Studies; D005817:Genetic Counseling; D006128:Growth; D006801:Humans; D008297:Male; D010787:Photosensitivity Disorders / Q000188:drug therapy* / Q000235:genetics; D011164:Porphyrias / Q000151:congenital / Q000188:drug therapy*; D012621:Seasons
D002338:Carotenoids
Porphyria erythropoetica congenita Günther. Arztliche Führung