Ранняя манифестация младенческой формы болезни Помпе (случай из практики)

Abstract

Despite the fact that more than 70% of hereditary diseases can be considered rare, their prevalence in the population is 2%. Pompe disease (glycogen storage disease type II, glycogenosis type II) is a rare genetic disease that is accompanied with a damage to muscle cells and nerve fibers due to the accumulation of glycogen in them. The latter is due to a deficiency of the acid alpha-glucosidase enzyme. The relevance of Pompe disease is due to her rarity and the set of nonspecific symptoms, as well as the fact that it can manifest at any age. Depending on the onset, early infantile and late adult forms are distinguished. The early infantile form of Pompe disease manifests itself from the first months of life, the clinic includes generalized muscle weakness, frequent respiratory infections, macroglossia, hepato- and cardiomegaly. The article describes a case of infantile Pompe disease in a child of the first year of life, which shows that without the results of specific tests, including genetic ones, the diagnosis will not be verified, and the way to a reasonable assignment of such tests often turns out to be long. A pediatrician, as well as subspecialist physicians, should be wary of infants with unusual combinations of symptoms, multiple organ lesions, since it is extremely important to transfer such a child for a consultation with a geneticist in a timely manner. Such actions will help not only save lives, but also preserve the quality of life of these patients. Due to the complexity of diagnosis, today it is promising to include Pompe disease in the list of diseases for newborn screening. In this case, the treatment will be preventive and will not allow the symptoms of the disease to develop. Preventive therapy will allow not only reduce the risk of fatal outcome in Pompe disease, but also significantly decrease the percentage of disability.