Erythropoietic (congenital) porphyria in a Bantu girl.
نویسنده
چکیده
منابع مشابه
A family with acute intermittent porphyria.
Porphyrias are inherited defects in heme metabolism that result in excessive secretion of porphyrins and porphyrin precursors. Porphyrias can be classified into acute, (neuropsychiatric), cutaneous and mixed forms. There are seven main types of porphyrias; acute intermittent porphyria and plumboporphyria are predominantly neuropsychiatric; congenital erythropoietic porphyria, porphyria cutanea ...
متن کاملCongenital erythropoietic porphyria: a case report.
Congenital erythropoietic porphyria is a rare autosomal recessive disorder of heme synthesis resulting from deficiency of uroporphyrinogen III synthase (UROIIIS). It is the most severe porphyria. The clinical manifestations are markedly variable due to the different mutation in the UROIIIS gene. We recently diagnosed a case of congenital erythropoietic porphyria. A 9-year-old boy presented with...
متن کاملIsotopic studies of the erythropoietic and hepatic components of congenital porphyria and 'erythropoietic' protoporphyria.
1. Labelled glycine and/or 6-aminolaevulinic acid (ALA) were administered to a child with congenital erythropoietic porphyria (Giinther’s disease), to three normal children and to three patients with erythropoietic protoporphyria. 2. The utilization of [I5N]ALA for the synthesis of faecal ‘urobilin’ in the congenital erythropoietic patient was normal. 3. This suggests there is no significant in...
متن کاملCongenital erythropoietic porphyria, diminished activity of uroporphyrinogen decarboxylase and dyserythropoiesis.
A 51 -yr-old white male with congenital erythropoietic porphyria (Gunther’s Disease) is described. The disease was first manifested in infancy and mutilating cutaneous photosensitivity eventually developed. The source of excess porphyrin production was a markedly dyserythropoietic bone marrow. The dyserythropoietic changes were most marked in the orthochromic and polychromatophilic normoblasts....
متن کاملErythropoietic (congenital) porphyria: A rare abnormality of the normoblasts.
ECENT STUDIES” 2, 3 have emphasized that in human beings, photosensitivity occurs as a result of two fundamentally different disturbances of porphyrin metabolism. In porphyria cutanea tarda, in which the excessive porphyrin formation is believed to take place in the liver, symptoms are seldom manifest before adult life.’ Its porphyria erythropoietica (congeisital, photosensitive), where large a...
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ورودعنوان ژورنال:
- The Central African journal of medicine
دوره 4 4 شماره
صفحات -
تاریخ انتشار 1958