Background. Cytolysis syndrome often helps to suspect liver pathology. However, a rare genetic disease may manifest under the guise of increased transaminases. No true etiology of the disease is then identified with the standard examination algorithm. It is not recognized for a long time. Patients diagnosed with unspecified hepatitis receive irrational treatment, which in turn leads to deterioration in the quality of medical care.Purpose. To analyze the medical history, laboratory test results and list of clinical symptoms in pediatric patients with genetic diseases in the debut, and to correlate an identified symptom complex with increased transaminases.Methods. The article presents the results of a retrospective study of 17 randomly selected cases of children with a first established diagnosis of Duchenne — Becker muscular dystrophy, glycogen storage disease, mucopolysaccharidosis followed up in 2010–2019. We used data from patient complaints, anamnesis vitae and anamnesis morbi, laboratory test results and list of clinical symptoms in the debut of genetic diseases. The statistical processing was performed by using parametric and nonparametric methods. Confirmation of the diagnosis was obtained by molecular genetic techniques and the test for expression of urine glycosaminoglycans. Confirming diagnostic technologies were used in the laboratory of molecular diagnostics and the laboratory of inherited metabolic diseases at the Bochkov Research Centre for Medical Genetics (Moscow).Results. A comparative analysis of medical history and clinical and laboratory data was performed in 9 patients with Duchenne — Becker muscular dystrophy, 5 patients with glycogen storage disease, and 3 children with mucopolysaccharidosis. Prolonged neonatal jaundice was observed in 22.2% of newborns with Duchenne muscular dystrophy. In myopathies, elevated transaminases originate from destroyed muscle fibers and are not associated with the breakdown of the liver cells. This fact is also confirmed by our discovery of a direct correlation between AST (r = 0.76) and ALT (r = 0.72) values with high activity of creatine phosphokinase (CPK), p < 0.05. Prolonged neonatal jaundice was observed in 40% of children with glycogen storage disease. Hepatomegaly was detected in all cases, due to which the volume of the abdomen increases giving a specific form to patients against the background of overweight, lag in physical development due to low growth in 80% of cases and a “puppet face” in 100% of children. There is strong correlation between the increased alkaline phosphatase and AST (r = 0.78), ALT (r = 0.81), p < 0.05. In the third group, there are three children with mucopolysaccharidosis. We did not find any significant increase in transaminases in this group of children.Conclusion. Against the background of progressive Duchenne — Becker muscular dystrophy, hyperenzymemia is detected in each male patient. There is correlation between elevated transaminases and high creatine phosphokinase. Cytolysis syndrome was found only in some cases of glycogen storage disease, and hyperenzymemia occurs against the background of typical clinical symptoms of the disease. In cases of mucopolysaccharidosis we have found no elevated transaminases, but there is hepatomegaly. In case of prolonged unexplained cytolysis syndrome, the pediatrician should conduct a diagnostic search to identify or exclude genetic diseases.
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
