losartan-potassium and Porphyrias

Topics: 5-Aminolevulinate Synthetase; Amino Acid Sequence; Animals; Chemical Phenomena; Chemistry; Enzyme Activation; Erythropoiesis; Erythropoietin; Fetal Hemoglobin; Globins; Glycine; Heme; Hemoglobins; Humans; Hybrid Cells; Iron; Mitochondria; Oxygen Consumption; Porphyrias; RNA, Messenger; RNA, Ribosomal; RNA, Transfer; Succinates; Transcription, Genetic

In a previous report, 31 patients with neuropsychiatric porphyria were studied and nine of these patients were anaemic in association with inappropriately low serum erythropoietin levels. We were also able to demonstrate that treatment with erythropoietin in non-porphyric patients (mainly diabetic patients with autonomic neuropathy) significantly reduced urinary delta-aminolaevulinic acid levels.. We treated six porphyric patients, five of whom were anaemic, with recombinant human erythropoietin (1000-2000 IU thrice weekly). They were all in clinical but not biochemical remission. Full blood count, including reticulocytes and platelets, urinary delta-aminolaevulinic acid, porphobilinogen and total porphyrins were measured monthly. Baseline serum ferritin, vitamin B(12), folate and C-reactive protein levels were all within the normal range and serum creatinine did not exceed 126 micromol/l.. After 3 months of treatment, the average baseline haemoglobin increased significantly (p=0.01). When treatment was stopped, the haemoglobin decreased and after 3 months pre-treatment, haemoglobin levels were reached. Urinary delta-aminolaevulinic acid, porphobilinogen and porphyrin levels all tended to decrease during treatment with erythropoietin, but the difference between baseline and 3 months of erythropoietin was statistically significant only for porphobilinogen (p=0.03). The severity of porphyria attacks was reduced and the quality of life increased during treatment with erythropoietin.. We conclude that in some porphyric patients treatment with erythropoietin reduces urinary delta-aminolaevulinic acid, porphobilinogen and porphyrin levels with an increase in well-being and a reduction in the severity of porphyria attacks.

Topics: Adult; Aged; Aminolevulinic Acid; Erythropoietin; Female; Hematologic Tests; Hemoglobins; Humans; Male; Mental Disorders; Middle Aged; Porphobilinogen; Porphyrias; Porphyrins

Topics: Aged; Deferoxamine; Erythrocytes; Erythropoietin; Humans; Iron; Male; Porphyrias; Porphyrins; Protoporphyrins; Renal Dialysis; Skin Diseases

Topics: Deferoxamine; Erythropoietin; Humans; Kidney Diseases; Male; Middle Aged; Plasma Exchange; Porphyrias; Porphyrins; Recombinant Proteins; Renal Dialysis; Skin Diseases

Haemodialysis-related porphyria cutanea tarda is a rare, but serious and mutilating skin condition, resulting from extremely high plasma porphyrin levels because of their inadequate clearance by haemodialysis. The treatment is very difficult as chloroquine is ineffective and venesection, the conventional treatment of this disease, is not always an option because of anaemia of end-stage renal disease. We report a case of haemodialysis-related porphyria cutanea tarda and her successful management by recombinant human erythropoietin treatment.

Topics: Erythropoietin; Female; Ferritins; Humans; Middle Aged; Porphyrias; Porphyrins; Renal Dialysis; Skin Diseases

Topics: Erythropoietin; Female; Humans; Kidney Failure, Chronic; Long-Term Care; Middle Aged; Porphyrias; Porphyrins; Recombinant Proteins; Renal Dialysis; Skin Diseases

Rapid and reproducible assays for uroporphyrinogen III synthase (URO-S; EC 4.2.1.75) have been developed and used to determine the enzymatic activity in human erythrocytes and cultured lymphoid cells. In the coupled-enzyme assay, porphobilinogen was first converted to hydroxymethylbilane, the natural substrate for URO-S, by hydroxymethylbilane synthase which was conveniently obtained from heat-treated erythrocyte lysates. In the direct assay, synthetic hydroxymethylbilane was used as substrate. In both assays, the uroporphyrinogen reaction products were oxidized to their respective uroporphyrin isomers, which were then resolved and quantitated by reversed-phase high-pressure liquid chromatography. Both assays were optimized for pH, substrate concentration, and linearity with time and protein concentration. The mean URO-S activities in normal human erythrocyte lysates determined by the coupled-enzyme and direct assays were 7.41 +/- 1.35 and 7.64 +/- 1.73 units/mg protein, respectively. In normal human cultured lymphoid cells, the mean activities were 13.7 +/- 1.39 and 17.6 +/- 1.15 units/mg protein for the coupled-enzyme and direct assays, respectively. In four families with congenital erythropoietic porphyria, both assays reliably identified the markedly decreased URO-S activities in erythrocytes and cultured lymphoid cells from affected homozygotes and the half-normal activities in these sources from obligate heterozygotes. The coupled-enzyme assay was easier to perform and was suited for clinical diagnostic assays and for monitoring enzyme purification procedures, while the direct assay, which required substrate preparation and technical dexterity, was best for kinetic studies of URO-S.

Topics: Cells, Cultured; Erythrocytes; Erythropoietin; Heterozygote; Homozygote; Humans; Hydro-Lyases; Hydrogen-Ion Concentration; Isomerism; Lymphocytes; Methods; Porphyrias; Uroporphyrinogen III Synthetase; Uroporphyrins

Topics: Erythrocytes; Erythropoietin; Heme; Humans; Light; Porphyrias; Porphyrins; Protoporphyrins

Topics: Child; Coproporphyrins; Erythropoietin; Female; Humans; Italy; Male; Photosensitivity Disorders; Porphyrias; Porphyrins

Topics: Adolescent; Bile Pigments; Blood Transfusion; Bone Marrow; Bone Marrow Cells; Bone Marrow Examination; Erythrocytes; Erythropoiesis; Erythropoietin; Feces; Female; Hematocrit; Humans; Iron Isotopes; Microscopy, Fluorescence; Polycythemia; Porphyrias; Porphyrins

Topics: Anemia, Sideroblastic; Animals; Ascorbic Acid; Cobalt; Erythropoiesis; Erythropoietin; Humans; Lead Poisoning; Porphyrias; Porphyrins; Rats