PubMed Health⌕ Search

Biomedical subjects

I Bossenmaier

Publications and source records attributed to I Bossenmaier.

At least 19 recordsLinked to original sources
PubMed1980

Hematin therapy in porphyric attacks.

We report our experience with hematin in the treatment of 57 patients in porphyric attacks. The ratio of acute intermittent porphyria: variegate porphyria: hereditary coproporphyria was 43:11:3. More than 90% of the patients showed not only a decline in their porphyrin precursors, but also a favor able clinical response. Hematin was well tolerated and should be considered the treatment of choice in porphyric relapse.

Heme↗
PubMed1978

Transitory renal failure following rapid administration of a relatively large amount of hematin in a patient with acute intermittent porphyria in clinical remission.

Transitory renal failure occurred in a patient with acute intermittent porphyria in clinical remission following i.v. administration of 1 000 mg hematin. The clinical and biochemical picture suggested "acute tubular necrosis", which was followed by a prompt and complete return of renal function without any late sequelae. The renal failure is thought to have resulted from the presence of circulating free hematin, formed as a result of rapid administration of such a relatively large amount. Such a complication has not occurred in patients given hematin for acute porphyric relapse, in whom much smaller amounts have been infused.

Acute Kidney Injury↗
PubMed1977

Postulated deficiency of hepatic heme and repair by hematin infusions in the "inducible" hepatic porphyrias.

There is compelling, indirect evidence of hepatic heme deficiency due primarily to the respective genetic errors of the three inducible hepatic porphyrias, acute intermittent porphyria, porphyria variegata, and hereditary coproporphyria. The induction is enhanced by exogenous inducers such as barbiturate, estrogens and other "porphyrogenic" chemicals and factors, including glucose deprivation. The newer knowledge of the induction of delta-aminolevulinic acid synthetase [delta-aminolevulinate synthase; succinyl--CoA:glycine C-succinyltransferase (decarboxylating), EC 2.3.1.37] in relation to inadequate heme, and repression by heme, stimulated early trials of hematin infusions to overcome the acute relapse in the foregoing inducible porphyrias. Recently this experience has been considerably expanded, 143 infusions of hematin having been given in 22 cases. Studies of the effect on the serum concentrations of delta-aminolevulinic acid and porphobilinogen have shown a highly significant decline, often to 0, especially of delta-aminolevulinic acid. A distinct relationship to the clinical severity of the attack has been evident in the frequency and magnitude of decline of serum delta-aminolevulinic acid and porphobilinogen. This was regularly associated with objective clinical improvement.

5-Aminolevulinate Synthetase↗
PubMed1977

Effect of hematin in porphyric neuropathy.

Early, intravenous administration of hematin in a patient with acute intermittent porphyria and severe quadriparesis may have produced partial but remarkable improvement of neuropathy, and resulted in simultaneous decline of porphyrin precursors in the blood. Intermittent, biweekly hematin infusions given 1 month after the onset of the porphyric relapse had no effect on recovery of the residual neuropathy. We believe hematin may be effective in the treatment of porphyric neuropathy, if administered before irreversible neuronal damage has occured.

Adult↗
PubMed1977

Comparison of the Hoesch and the Watson-Schwartz tests for urinary porphobilinogen.

A comparison of the Hoesch and the Watson-Schwartz tests shows that the latter, although slightly more complicated, generally yields more concise results and is superior in sensitivity and specificity for porphobilinogen. The recommendation of the Hoesch test for use as a "bedside screening" method seems unrealistic. Before the diagnosis of an "inducible" porphyria is made, a positive Hoesch test requires that indoles, indoleacetic acid, methyldopa, end-stage alcoholic malnutrition, and phenazopyridine HCl be excluded, to avoid misinterpretation.

Chromatography, Thin Layer↗
PubMed1976

Hematin treatment of acute porphyria. Early remission of an almost fatal relapse.

Intravenous infusions of hematin in a young woman with acute porphyria in profound relapse was followed within 48 hours by remission of symptoms and rapid recovery. From a state of severe central and peripheral nervous-system involvement, the patient recovered so completely that she was able to leave the hospital in less than a month, with only a residual weakness of her arms. Serial studies of serum and urinary levles of porphyrin precursors and serum level of hematin provided highly important information about the effect of hematin on acute porphyria.

Acute Disease↗
PubMed1976

The activities of uroporphyrinogen synthetase and cosynthetase in congenital erythropoietic porphyria (CEP).

Normal or increased amounts of series III porphyrins with greater amounts of series I were observed on incubation of PBG in hemolysates of congenital erythropoietic porphyria vs. normal erythrocytes, human or bovine. Correlation with reticulocyte percentage was poor, in the aggregate a general trend toward increased values of both isomers I and III was noted with increasing reticulocytes. When the percent of type III was low the net amount was increased as compared with normal. Hemolysates of non-porphyric, reticulocyte-rich red cells (hemolytic or posthemorrhagic anemia) formed only minute amounts of type I porphyrin but at the same time no more, or even less type III than the porphyric hemolysates, although representing red cells of greater reticulocyte content. No evidence of deficient heme synthesis was observed in porphyric hemolysates incubayed with [14C]-porphobilinogen or 59Fe. Other studies of porphyric hemolysates incubated with and without added mouse spleen synthetase failed to reveal evidence of an absolute UPG-III cosynthetase (Co-S) deficiency. The large increases of type I porphyrin with normal or increased formation of type III, both in the disease and in the hemolysates, are believed due to a primary increase of ALA-S or UPG-S activity rather than a decrease of Co-S. Possible mutations which might be responsible for this increase are considered.

Adult↗
PubMed1976

Porphyria variegata and porphyria cutanea tarda in siblings: chemical and genetic aspects (addendum).

A porphyria kindred in which the index case has porphyria variegata had also been shown to include a case of porphyria cutanea tarda, typical both from chemical and clinical features. The possibility that this was purely acquired rather than genetic seemed unlikely, but could not be wholly excluded. Recently, a niece of both of these cases, although asymptomatic, has been found to conform chemically with porphyria cutanea tarda, including the excretion of the isocoproporphyrin series, and thus represents the second case of this form of porphyria in this family. This strengthens the concept of genetic heterogeneity in this kindred and supports the suggestion of a double heterozygosity, as proposed in the primary paper [Watson, C.J. et al. (1975) Proc. Nat. Acad. Sci. USA 72, 5126-5129].

Heterozygote↗
PubMed1975

Porphyria variegata and porphyria cutanea tarda in siblings: chemical and genetic aspects.

A woman aged 54 was studied because of a severe acute porphyric (neurologic) relapse with clinical and chemical findings characteristic of porphyria variegata. During a family survey, her brother, aged 59, was found to have chemical abnormalities typical of porphyria cutanea tarda, without suggestion of neurologic manifestations. He had mild skin changes compatible with either of these forms of porphyria. The sister exhibited the protocoproporphyria of porphyria variegata, together with a large amount of fecal "x" porphyrin fraction, without demonstrable isocoproporphyrins. The brother had a uro-isocopro-type of porphyria in accord with the diagnosis of porphyria cutanea tarda, and quite at variance with the sister's findings. This occurrence of porphyria variegata and porphyria cutanea tarda in siblings is thus far unique. Certain hypotheses are considered in respect to genetic aspects of the differing prophyrias in this sibling pair.

Acute Disease↗
PubMed1975

Effects of hematin in hepatic porphyria. Further studies.

The present study was carried out in five cases of hepatic porphyria, including three of acute intermittent porphyria, one of variegate porphyria, and one of porphyria cutanea tarda in clinical remission. In two cases of acute intermittent porphyria (in relapse), a marked lowering effect on serum and urine porphobilinogen and delta-aminolevulinic acic was observed, together with prompt and gratifying clinical improvement. In a third case, in chemical remission but with longstanding psychoneurosis, no significant effects were noted, nor were any observed in the case of porphyria cutanea tarda. Although clinical improvements occurred in the case of variegate porphyria, the results were inconclusive for reasons given. Hematin was generally well tolerated. Preliminary reference is made to a transitory renal injury, without sequelae, where an excess of hematin was given in relation to time. Limits of tolerance are proposed. In the light of these observations the basic mechanism of the acute attack is diccussed.

Adult↗
PubMed1974

Repression by hematin of porphyrin biosynthesis in erythrocyte precursors in congenital erythropoietic porphyria.

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.

Adult↗