Гликогеновая болезнь, IX тип у детей: клинические наблюдения

Abstract

Orphan diseases are of increasing scientific and practical interest due to the difficulties of diagnosis which in its turn is caused by their rare occurrence and, accordingly, delayed actions aimed at improving the patient’s quality of life and in some situations the impossibility of preserving it. The clinical observations presented in this Article demonstrate emerging problem: many diseases have similar symptoms, and correct vision and interpretation of these symptoms and syndromes require time and specific diagnostic methods. Analyses of the observed clinical situations are useful from the perspective of medical education and alertness to rare genetic diseases. The Article presents clinical observations of a glycogen disease type IX case in siblings, of a familiar and hereditary nature. For the first time, hepatomegaly and increased transaminase levels were accidentally detected in an older boy at the age of 2 years old during an outpatient check-up. As a result of a thorough long-term examination of the child, a number of diseases accompanied by liver damage were excluded and a hereditary metabolic pathology was suggested. Molecular genetic research made it possible to establish a diagnosis by identifying a genetic defect when the child was 4 years and 3 months old. Similar complaints and clinical manifestations in the younger brother of the described patient prompted the disease, as a result of which an identical gene mutation was discovered. The study of the genotype of the children's mother made it possible to confirm both the familiar and the hereditary nature of transmission of the disease from a clinically healthy carrier-mother to her sons. The clinical observations of glycogen disease, type IX, presented in the Article attract attention due to the non-obviousness of the clinical diagnosis when detected in siblings. Timely examination and diagnostic research made it possible to verify the diagnosis and develop a rational diet that contributes to the achievement of the main life characteristics - its quality and expectancy. Thus, a prognostically favorable prognosis was ensured. Conclusion: a genetic defect may be hidden behind the nonspecific manifestations of almost any disease. From this perspective, it becomes obvious that it is necessary to inform physicians of all specialties, especially within the primary care healthcare system, about the possibility of medical genetic counseling, the increasing availability of molecular genetic examinations and biochemical tests aimed at identifying hereditary pathologies. Timely examination and treatment, early medical intervention helped changing the course of the disease in terms of minimizing symptoms and improving the quality of life, reducing the rate of progression of the pathology.