Biomaterial Database

[The management of a case of congenital erythropoetic prophyria (author's transl)]. 1977

E G Jung

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.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D010787	Photosensitivity Disorders	Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.	Actinic Reticuloid Syndrome,Dermatitis, Actinic,Photodermatitis,Chronic Actinic Dermatitis,Photosensitization,Actinic Dermatitides,Actinic Dermatitides, Chronic,Actinic Dermatitis,Actinic Dermatitis, Chronic,Actinic Reticuloid Syndromes,Chronic Actinic Dermatitides,Dermatitides, Actinic,Dermatitides, Chronic Actinic,Dermatitis, Chronic Actinic,Disorder, Photosensitivity,Disorders, Photosensitivity,Photodermatitides,Photosensitivity Disorder,Reticuloid Syndrome, Actinic,Reticuloid Syndromes, Actinic,Syndrome, Actinic Reticuloid,Syndromes, Actinic Reticuloid
D011164	Porphyrias	A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.	Porphyria,Porphyrin Disorder,Disorder, Porphyrin,Disorders, Porphyrin,Porphyrin Disorders
D001855	Bone Marrow Diseases	Diseases involving the BONE MARROW.	Bone Marrow Disease,Disease, Bone Marrow,Diseases, Bone Marrow,Marrow Disease, Bone,Marrow Diseases, Bone
D002338	Carotenoids	The general name for a group of fat-soluble pigments found in green, yellow, and leafy vegetables, and yellow fruits. They are aliphatic hydrocarbons containing 4 terpene subunits.	Carotenes,Carotenoid,Tetraterpene Derivatives,Tetraterpenes,Carotene,Derivatives, Tetraterpene
D002657	Child Development	The continuous sequential physiological and psychological maturing of an individual from birth up to but not including ADOLESCENCE.	Infant Development,Development, Child,Development, Infant
D004920	Erythropoiesis	The production of red blood cells (ERYTHROCYTES). In humans, erythrocytes are produced by the YOLK SAC in the first trimester; by the liver in the second trimester; by the BONE MARROW in the third trimester and after birth. In normal individuals, the erythrocyte count in the peripheral blood remains relatively constant implying a balance between the rate of erythrocyte production and rate of destruction.	Erythropoieses
D005500	Follow-Up Studies	Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.	Followup Studies,Follow Up Studies,Follow-Up Study,Followup Study,Studies, Follow-Up,Studies, Followup,Study, Follow-Up,Study, Followup
D005817	Genetic Counseling	An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.	Counseling, Genetic,Genetic Counseling, Prenatal,Prenatal Genetic Counseling
D006128	Growth	Gradual increase in the number, the size, and the complexity of cells of an individual. Growth generally results in increase in ORGAN WEIGHT; BODY WEIGHT; and BODY HEIGHT.