title: [Chronic hepatic porphyria with uroporphyrinogen decarboxylase defect in four generations (author's transl)].
abstract: A 54-year-old patient was found to have clinically manifest chronic hepatic porphyria (porphyria cutanea tarda) with characteristic skin findings and pathological porphyrinuria with dominance of uro- and heptacarboxyporphyrin in combination with only slight liver damage. Four generations of his family were investigated and an autosomal dominantly inherited uroporphyrinogen decarboxylase defect was found. In children and grandchildren the urinary porphyrin biochemistry also showed a chronic porphyrin metabolic disorder, in some cases with transition to the initial stages of chronic hepatic porphyria. The patient was treated with metabolic alkalisation using Uralyt-U. Skin changes became normal within 6 months. The chronic hepatic porphyria regressed through varyingly severe latent stages over two years until normal porphyrin in urine was reached.
mesh_terms: D002262:Carboxy-Lyases / Q000172:deficiency*; D002908:Chronic Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011164:Porphyrias / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D012871:Skin Diseases / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D014575:Uroporphyrinogen Decarboxylase / Q000172:deficiency*
chemical_list: D002262:Carboxy-Lyases; D014575:Uroporphyrinogen Decarboxylase
vernacular_title: Chronische hepatische Porphyrie mit Uroporphyrinogen-Decarboxylase-Defekt in vier Generationen.