Some Studies of the Comparative Biology of Human and Bovine Erythropoietic Porphyria

Watson, C. J.; Perman, V.; Spurrell, Francis A.; Hoyt, Harvey H.; Schwartz, Samuel

doi:10.1001/archinte.1959.00270030092009

Cited by 39 publications

(18 citation statements)

References 11 publications

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“…Indirect and direct Coomb's tests were negative. Haemolysis seems to be associated with an increased osmotic fragility of erythrocytes, due to increased concentrations of erythrocyte porphyrins (37). Porphyrin deposition may also be found in bone marrow (38), where between 30 and 70% of the erythroblasts show porphyrin fluorescence (fluorocytes), i.e.…”

Section: Discussionmentioning

confidence: 99%

Biochemical Diagnosis of a Fatal Case of Günther’s Disease in a Newborn with Hydrops Foetalis

Verstraeten

Regemorter²,

Pardou³

et al. 1993

Clinical Chemistry and Laboratory Medicine

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Summary:The birth of a male baby was induced at 32 weeks. In utero, the child presented, inter alia, signs of hydrops, hepatosplenomegaly and anaemia. Two in utero transfusions for correction of the anaemia were performed at 28 and 29 weeks, respectively. The baby rapidly presented respiratory distress with mixed acidosis. Three hours after birth, pink urine was excreted. Signs of icterus necessitated phototherapy, after which photosensitivity occurred. Erythrocytes were fluorescent under long-wavelength UV light. The baby died 24 hours after birth, displaying severe acidosis, a diffuse haemorrhagic syndrome, and repeated bradycardia which did not respond to isoprenaline.The analysis of porphyrins in urine, blood and faeces of the baby gave the following results: 1) uroporphyrin (I and III isomeric series) was increased in urine and faeces, with traces in erythrocytes and plasma;2) heptacarboxyporphyrin I was found mainly in urine and much less in erythrocytes, plasma and faeces;3) coproporphyrin I was increased in urine, erythrocytes, plasma and faeces, and 4) 5-aminolaevulinic acid and porphobilinogen in urine and plasma were within the reference ranges.Determination of the enzymes of haem biosynthesis in erythrocytes and lymphocytes showed that both parents possessed only 50% of the normal activity of cosynthase.

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Section: Discussionmentioning

confidence: 99%

Biochemical Diagnosis of a Fatal Case of Günther’s Disease in a Newborn with Hydrops Foetalis

Verstraeten

Regemorter²,

Pardou³

et al. 1993

Clinical Chemistry and Laboratory Medicine

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“…Aberrant porphyrin metabolism has been described in cattle [1,32,59,85,86,88,117,128,129,162], swine [33,85,86,88] and squirrels [157]. The porphyrias of cattle are inherited as a simple mendelian recessive trait and have been studied more extensively than have the porphyrias of other species.…”

Section: Porphyrin Metabolismmentioning

confidence: 99%

“…The survival time of the erythrocytes of affected cows is 25-47 days, in contrast to the normal red blood cell life span of 140-160 days. Uroporphyrin I and coproporphyrin I are readily demonstrable within the reticulocytes and are excreted in excess in the urine [161,162]. Variable concentrations of uroporphyrin I and coproporphyrin I have been demonstrated in the plasma and in human congenital erythropoietic porphyria.…”

Section: Porphyrin Metabolismmentioning

confidence: 99%

Comparative Biology: Animal Models of Human Hematologic Disease: A Review

Kitchen

1968

Pediatr Res

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“…Case protocol M. M., a woman, 41 years old, weight 90 pounds, has been known to have congenital porphyria since age 2, as described in more detail in an earlier paper (20). At (Fig.…”

mentioning

confidence: 99%

“…The excessive hemolysis and its stimulus to increased erythropoiesis was markedly reduced (20,21 12 cycles of transfusion-induced remission have been observed, with characteristic decline of normoblasts and porphyrin excretion, and subsequent gradual return to the porphyric level. The first of these cycles is shown in Fig.…”

mentioning

confidence: 99%

Repression by Hematin of Porphyrin Biosynthesis in Erythrocyte Precursors in Congenital Erythropoietic Porphyria

Watson

Bossenmaier

Cardinal

et al. 1974

Proc. Natl. Acad. Sci. U.S.A.

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Hematin administered intravenously in a patient with congenital erythropoietic porphyria evidently entered erythrocyte precursors in the bone marrow, producing the well-known negative feedback repression of porphyrin biosynthesis with marked decline of porphyrin concentrations in urine, circulating plasma, and erythrocytes. A delay in the major segment of this effect corresponded roughly with the sum of the average transit times through the maturation compartments of the erythrocyte precursors. This delay was considerably longer than previously observed in the decline of porphyrin precursors after administration of hematin in patients with hepatic porphyria. The effect of hematin was compared with that of packed erythrocyte transfusions given at regular intervals in the same patient over a period of 2.5 years. In general, administration of hematin results in a reduction of porphyrin formation of the same order of magnitude, but of shorter duration, possibly in relation to the relatively small amounts of hematin infused.

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Some Studies of the Comparative Biology of Human and Bovine Erythropoietic Porphyria

Cited by 39 publications

References 11 publications

Biochemical Diagnosis of a Fatal Case of Günther’s Disease in a Newborn with Hydrops Foetalis

Biochemical Diagnosis of a Fatal Case of Günther’s Disease in a Newborn with Hydrops Foetalis

Comparative Biology: Animal Models of Human Hematologic Disease: A Review

Repression by Hematin of Porphyrin Biosynthesis in Erythrocyte Precursors in Congenital Erythropoietic Porphyria

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