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

Abstract

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.

Usefulness of Chromatographic Analysis of Fecal Porphyrins in the Diagnosis of Porphyrias

“…However, urine and fecal porphyrin chromatographic separation showed excretion patterns identical to those in CEP, with no isocoproporphyrin in the feces (Table 6). Similar observations have been reported in the literature (21)(22)(23)(24)(25)(26). In late onset CEP, clinical features strongly suggest PCT, and, because of this, measurement of blood porphyrins is usually omitted.…”

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

“…Furthermore, increased concentrations of erythrocyte porphyrins have been found in relatives of congenital erythropoietic porphyria patients, consistent with a partial deficiency of uroporphyrinogen III synthase in heterozygotes (3,(27)(28)(29). In our study, plasma and erythrocyte porphyrins were within reference range for both parents.…”

Congenital erythropoietic porphyria: advances in pathogenesis and treatment

“…Secondary splenomegaly develops in response to the increased uptake of abnormal erythrocytes from the circulation, which may contribute to the anaemia and also may result in leucopenia and thrombocytopenia. The latter is sometimes associated with significant bleeding and splenectomy may be beneficial in such cases (Pain et al , 1975; Weston et al , 1978). Anaemia due to haemolysis can be severe.…”