SOVREMENNAYA PEDIATRIYA.2018.2(90):66-70; doi 10.15574/SP.2018.90.66

Berezenko V. S., Dyba M. B., Reznikov Yu. P.
Bogomolets National Medical University, Kyiv, Ukraine
SI Institute of Paediatrics, Obstetrics and Gynaecology of NAMS of Ukraine, Kyiv

Congenital disorders of bilirubin metabolism, which are mostly of a familial nature, cause more diagnostic difficulties for paediatricians and general practitioners due to the possibility of onset in different age periods. Clinical suspicion, prevalence and availability of specific tests, including molecular genetic studies, contribute to the timely verification of indirect hyperbilirubinaemia; while in direct hyperbilirubinaemia, there is a difficulty in confirming the diagnosis due to the lack of available specific tests and the need of morphohistological examination. The article presents a clinical case of Dabin–Johnson syndrome (DJS), which was manifested in the neonatal period with a relapsing course in the form of moderate jaundice. The key symptoms indicating DJS are as follows: hyperbilirubinaemia due to the direct fraction, manifestation at pubertal age, presence of neonatal form (as in the described clinical case). To verify the diagnosis, it is recommended to determine the level of urine coproporphyrin with fractions.
Key words: Dabin–Johnson syndrome, children, hyperbilirubinaemia, coproporphyrin.

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