A modern view on the management of patients with infantile Pompe disease
L.A. Gandaeva (1), E.N. Basargina (1, 2), O.P. Zharova (1), O.B. Kondakova (1), A.B. Rozhkova (3), A.A. Pushkov (1), K.V. Savostyanov (1)
1) National Medical Research Center for Children’s Health, Moscow, Russia;
2) Filatov Clinical Institute of Children’s Health, Sechenov University, Moscow, Russia;
3) V.P. Polyakov Samara Regional Clinical Cardiological Dispensary, Samara, Russia
Background. Pompe disease, also known as type II glycogenosis, is a metabolic disorder that causes glycogen to be deposited within lysosomes in muscle tissue. CRIM status may influence the management and prognosis of patients with infantile Pompe disease. The article presents the experience of managing a patient with a CRIM-negative status in Pompe disease and demonstrates the importance of early diagnosis of the disease.
Objective. Substantiation of the relevance of determining the CRIM status in patients with Pompe disease and the importance of early diagnosis of the disease.
Methods. In the period from 2011 to 2020, 12 patients (6 boys and 6 girls) with infantile Pompe disease, confirmed both by enzyme diagnostics and by the results of genetic testing, were followed-up by doctors of the Cardiology Department of the National Research Center for Children’s Health.all patient received ERT by intravenous recombinant human acid α-glucosidase. Currently, 2 patients continue to be followed-up in the clinic. Clinical (family history taking, examination of the patient), laboratory (determination of the creatinine phosphokinase, creatine phosphokinase-MB, lactate dehydrogenase, aspartate aminotransferase, alanine aminotransferase, natriuretic peptide levels), instrumental (echocardiography, electrocardiography, chest x-ray, ultrasound examination of the kidneys and abdominal organs), molecular genetic (GAA gene sequencing by direct automatic Sanger sequencing) and biochemical (enzyme diagnostics by tandem mass spectrometry) were used.
Results. ERT is most promising when it is started before the onset of clinical manifestations, which makes early diagnosis of the disease extremely important. The induction of immune tolerance in CRIM-negative patients may reduce the formation of antibodies to alglucosidase α, allowing to enhance the effectiveness of therapy in children of this category. In patients with Pompe disease who demonstrate an insufficient clinical response to standard ERT regimens, an increase in the dose and/or frequency of administration of the drug can be considered.
About the Autors
Corresponding author: Leila A. Gandaeva, Cand. Sci. (Med.), Senior Researcher, Pediatric Cardiologist, National Medical Research Center for Children’s Health, Moscow, Russia; firstname.lastname@example.org