Porphyria erythropoetica congenita Günther

Heilmeyer, Ludwig; Clotten, R.; Kerp, L.; Merker, H; Parra, Cr. A.; Wetzel, H

doi:10.1055/s-0028-1112376

Cited by 26 publications

(2 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The haematological abnormalities in this case were, apart from the thrombocytopenia, those commonly described in Gunther's disease.3 Thrombocytopenia has been recorded in only eight other cases of erythropoietic uroporphyria5 [8][9][10][11][12][13] though hypersplenism is present in about 80% of cases. Unlike the Bantu patient5 our patient experienced a rise in the platelet count to normal after the institution of prednisolone at a maintenance dose of 10 mg/day.…”

Section: Discussionmentioning

confidence: 96%

Erythropoietic uroporphyria of Gunther first presenting at 58 years with positive family studies.

Pain¹,

Welch²,

Woodroffe³

et al. 1975

BMJ

View full text Add to dashboard Cite

BRITISH MEDICAL JOURNAL 13 SEPTEMBER 1975 621 leprosum has been suspected but not proved to be the cause of nephritic changes. Recently Drutz and Gutman have published a detailed study on the specific relation of glomerulonephritis to type 2 reaction in lepromatous leprosy,' 9 and our findings are in accordance with their conclusions and those of others20 21 on the role of immune-complex deposition in glomerular basement membranes and capillary walls. The occurrence of bacilli in relation to the juxtaglomerular apparatus must be rather unusual, and though bacilli have been found in necropsy studies, and also in biopsy specimens,2 kidney parenchyma is not usually invaded in this disease. The common association of cryoglobulinaemia with lepromatous leprosy has been described,23 and our finding of IgG and IgM in both glomeruli and the cryoglobulin suggests that they share a part in the pathogenesis of this glomerulonephritis. To our knowledge there are no published data relating the incidence of proteinuria or glomerulonephritis to that of serum cryoglobulins in leprosy, though this association has often been noted in other diseases. In conclusion the inverse relation between skin and joint manifestations in this syndrome seems to be worth further investigation, as are the effects of renal involvement on the prognosis for patients with lepromatous leprosy in reaction. Lancet, 1972, 2, 572. 10 Karat, A. B. A., et al., British Medical Journal, 1967 Manigrand, G., et al., Semaine des Hopitaux de Paris, 1969, 45, 543. 12 Ramu, G., and Balakrishnan, S., Leprosy in India, 1968, 40, 62. 13 Jopling, W. H., and Mehta, H. D., Leprosy Review, 1972, 43, 39. 14 Brusco, C. M., and Masanti, J. G., InternationalJournal of Leprosy, 1963, 31, 14. British Medical Journal, 1975, 3, 621-623 Summary Erythropoietic uroporphyria of Gunther was seen in a 58-year-old man who presented with photosensitivity, haemolytic anaemia, and classical laboratory findings. Family studies showed five asymptomatic relatives with erythrocyte uroporphyrin concentrations in the probable latent heterozygote range.

show abstract

Section: Discussionmentioning

confidence: 96%

Erythropoietic uroporphyria of Gunther first presenting at 58 years with positive family studies.

Pain¹,

Welch²,

Woodroffe³

et al. 1975

BMJ

View full text Add to dashboard Cite

show abstract

“…The abnormality is inherited as an autosomal recessive gene (Marver and Schmid, 1972). Abnormalities of porphyrin metabolism (Heilmeyer, Clotten, Kerp, Merker, Parra, and Wetzel, 1963) and a slightly decreased co-synthetase in red cells and cultured fibroblasts (Romeo, Glen, and Levin, 1970;Romeo, Kaback, and Levin, 1970) have been described in clinically normal heterozygotes. Heilmeyer and Clotten (1964) have described a mild form of cutaneous photosensitivity associated with an increase in erythrocyte coproporphyrin but no further patients with this condition have been encountered.…”

Section: Classification and Nomenclaturementioning

confidence: 99%

The porphyrias: a review.

Elder¹,

Gray²,

Nicholson³

1972

J Clin Pathol

View full text Add to dashboard Cite

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

et al. 1976

View full text Add to dashboard Cite

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.

show abstract

Porphyria erythropoetica congenita Günther

Cited by 26 publications

References 0 publications

Erythropoietic uroporphyria of Gunther first presenting at 58 years with positive family studies.

Erythropoietic uroporphyria of Gunther first presenting at 58 years with positive family studies.

The porphyrias: a review.

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

Contact Info

Product

Resources

About