Хвороба Помпе: діагностика та сучасні підходи до терапії

Abstract

The article presents a clinical case of a child with an infantile form of Pompe disease. At the age of 5 months, the girl became ill with acute bronchitis and the gentle systolic murmur over the surface of the heart detected by the district pediatrician during auscultation was the reason for referral to a cardiologist. Echocardiography diagnosed hypertrophic cardiomyopathy and the child was hospitalized for further examination. The mother did not complain. Given the slightly reduced muscle tone, elevated levels of transaminases and hypertrophic cardiomyopathy, and after consultation with a neurologist and geneticist, it was decided to conduct a genetic examination. A pathogenic variant of p.1447G> A (p.Gly483Arg) was detected in the GAA gene in a homozygous state and a clinical diagnosis was made: Pompe disease, infantile classical form. One month after diagnosis, pre-existing human recombinant α-glucosidase replacement therapy was initiated. During 18 months of treatment, the child's condition was satisfactory, no adverse side effects from enzyme replacement therapy were recorded, but lysosomal glycogenic load in the heart tissue was significantly reduced (according to echocardiography). Pompe disease is a rare genetic disease that is important to diagnose in a timely manner. Today, it is extremely important for doctors to understand the timeliness of referral to specialized centers for the necessary genetic scanning of children with suspected CP. Diagnosis of CP involves the detection of characteristic symptoms, confirmation of the diagnosis based on the detected low level of α-glucosidase in the patient's blood. The appointment of specific therapy for CP can stop the progression of the disease and significantly improve the quality and life expectancy of such patients. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of these Institutes. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: Pompe disease, diagnosis, treatment.