Clinical and Laboratory Markers of Hereditary Metabolic Diseases in Children of the First Half of Life

• Main Authors: N. N. Martynovich, N. E. Globenko, S. N. Kuznetsova
• Format: Article
• Language: Russian
• Published: Scientific Сentre for Family Health and Human Reproduction Problems 2020-09-01
• Series: Acta Biomedica Scientifica
• Subjects: hereditary metabolic diseases; hereditary pathology; tandem mass spectrometry; children of the first half of life
• Online Access: https://www.actabiomedica.ru/jour/article/view/2395

A significant contribution to the morbidity and mortality of children is due to hereditary pathology, which is manifested by high mortality. Aim of the research. To study the frequency of occurrence, structure and clinical and laboratory markers of hereditary metabolic diseases in children of the first half of the year with suspicion of this pathology. Materials and methods. A retrospective analysis of case histories (form No. 003/y) and a face-to-face examination of patients directed to blood tests by tandem mass spectrometry, from Surgery Unit No. 2 for Newborns and Premature Babies and from the Unit of Pathology of Newborns, (Ivano-Matryoninskaya City Children’s Clinical Hospital, Irkutsk). Results. In 2019, 21 children with suspected hereditary metabolic diseases were examined using the tandem mass spectrometry method in the above mentioned departments. All of them had at least one of the main clinical criteria for hereditary metabolic diseases: 67 % had hepatomegaly in combination with an increase in the level of liver enzymes, 43 % had a hereditary history and metabolic acidosis, 33 % showed a sudden deterioration after a period of normal development, 24 % had hypoglycemia, and 14 % had an abnormal urine or body odor, in 4.7 % of cases there was an increase in ketone bodies in the blood and (or) urine. All children identified from 3 to 7 additional criteria, which are indications for examination on the hereditary metabolic diseases. The results of the study revealed 5 children with hereditary metabolic diseases namely amino acid metabolism. 90 % of them had a burdened hereditary history, 100 % had a concomitant pathology – hepatitis and cholestatic lesions of the liver, anemia, an open oval window and others. Conclusion. Despite the obvious economic and medical significance of preclinical identification of patients with hereditary metabolic diseases, the screening problem contains many open questions that need to be addressed at all levels of the organization.