[The HLA and protease inhibitor (Pi) system in erythropoietic (hepatic) protoporphyria. Family studies]. / HLA- und Proteaseninhibitor (Pi-) System bei erythropoetischer (-hepatischer) Protoporphyrie. Familienstudien.

Relations between porphyrias (porphyria cutanea tarda, variegate porphyria) and HLA- or protease inhibitor (Pi-) system were repeatedly found or supposed. Corresponding investigations do not exist for erythropoietic protoporphyria (EP), for which an autosomal dominant mode of inheritance with highly varying expressiveness (additional genes?) is being discussed. Three families with five EP-patients were examined for possible relations between the manifestations of this disease (skin - and liver changes) and the above-mentioned genetic markers. It was remarkable that three of the patients had the HLA A 3, but nobody of the obvious gene-carriers of this disease without clinical manifestations. On the other hand, two ill couples of siblings were genetically different as to HLA A 3. One couple with liver morphological changes each were different as Pi M-carrier and Pi MS-carrier respectively. Thus, relations between the disease and the genetic markers examined could not be proved.

[Protoporphyrinemia and iron metabolism in hemodialysis patients]. / Protoporphyrinämie und Eisenstoffwechsel bei Hämodialysepatienten.

In 24 patients undergoing haemodialysis, two of them with pseudoporphyria, the total erythrocytic protoporphyrin and in four patients separately the zinc protoporphyrin were investigated. 20 patients showed an increase of the erythrocytic protoporphyrin of low to moderate degree, which only partly is to be ascribed to the zinc protoporphyrin. Since, as a rule, there is no iron deficit in haemodialysis, a secondary damage of the ferrochelatase, which physiologically by administration of iron leads to haem (ferroprotoporphyrin), is assumed as cause of the increase of erythrocytic protoporphyrin. Apart from the toxic lesion in particular a deficiency of the ferrochelatase coenzyme pyridoxal phosphate can be taken into consideration. Diagnostic and therapeutic investigations carrying on are proposed. The erythrocytic protoporphyrin does not only contribute to the pseudoporphyria in haemodialysis.