[Diagnostic porphyrinopathies in hereditary hyperbilirubinemia].
Secondary porphyrinopathias were investigated in hereditary hyperbilirubinemias of the types Dubin-Johnson syndrome (DJS), Rotor's syndrome (RS), Gilbert's syndrome (GS) and compared with the findings in alcohol-induced cholestasis. The determination of urinary coproporphyrin excretion including its isomer I and III relation allows to diagnose and differentiate DJS from the other two forms of hereditary hyperbilirubinemias. An isomer I proportion of > 80% (normal < 32%) in association with a normal coproporphyrin excretion is pathognomonic for DJS. An increased coproporphyrinuria with about 70% isomer I is found in RS; a normal urinary coproporphyrin excretion combined with an isomer I increase of about 50-70% indicates the frequent GS. Alcohol-related cholestasis reveals a distinct pathologic coproporphyrinuria and elevated isomer I proportions between 37-67%. Due to the overlapping of isomer alterations in DJS-gene carriers, patients with GS and patients with exogenous toxically-induced cholestasis, additional diagnostic criteria are required to clarify the porphyrinopathia in its clinical context.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003306:Coproporphyrins / Q000652:urine; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D006933:Hyperbilirubinemia, Hereditary / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011164:Porphyrias / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome
D003306:Coproporphyrins
Diagnostische Porphyrinopathien bei hereditären Hyperbilirubinämien.