DRUG–ASSOCIATED NEPHROTIC SYNDROME IN A CHILD WITH WILSON–KONOVALOV DISEASE

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Wilson's disease (WD) (synonyms: Wilson–Konovalov disease, hepatolenticular degeneration, hepatocerebral dystrophy) is a rare, severe, hereditary multisystem disorder that manifests itself primarily in liver, neurological, and psychiatric disorders due to excessive copper deposition in organs and tissues. The long latent course and polymorphism of clinical symptoms make diagnostics difficult. WD manifests itself in childhood, adolescence, and later in life. WD diagnostics is based on a combination of clinical symptoms, laboratory test data (determination of ceruloplasmin levels in the blood, copper excretion in the urine), and molecular genetic testing. Complex treatment of WD primarily involves adherence to a copper–eliminating diet. A mandatory condition for the effectiveness of treatment of patients with WD is lifelong chelation therapy. The drug of choice in all age groups is D–penicillamine (a penicillin derivative), which has a significant number of side effects. Adverse reactions against the background of D–penicillamine therapy develop in about 30% of cases. These include changes in the nervous system (loss of taste, pyridoxine–deficiency polyneuritis), respiratory system (interstitial pneumonitis, diffuse fibrosing alveolitis, Goodpasture's syndrome), digestive system (decreased appetite, nausea, vomiting, diarrhea, aphthous stomatitis, glossitis, intrahepatic cholestasis, pancreatitis), kidneys (nephritis, nephrotic syndrome, hematuria). The purpose of this publication is to describe the case history of a 6–year–old girl with Wilson's disease. The peculiarity of the clinical case we present is the latent course of the disease in a 6–year–old girl, which was suspected when cytolysis syndrome was detected in connection with an examination for episodic abdominal pain. Further examination showed a decrease in the ceruloplasmin level, initially borderline values of copper excretion with urine and questionable values in the penicillamine test. Molecular genetic testing was important for establishing the diagnosis, which confirmed the diagnosis. Prescribed chelation therapy with D–penicillamine led to the normalization of cytolysis syndrome indices, but caused serious adverse events in the form of nephrotic syndrome formation, which required replacing D–penicillamine with trientine and prescribing glucocorticoids. Against the background of treatment correction, stable clinical and laboratory remission of nephrotic syndrome was achieved with satisfactory renal and liver function indices and no cytolysis manifestations.