Objective. To evaluate the efficacy, safety, and tolerability of a specialized food product for dietary therapeutic nutrition “Bifinilan” in children over 7 years of age with phenylketonuria. Patients and methods. An open-label prospective study was conducted in outpatient clinical settings. It included 17 children with phenylketonuria aged between 8 and 15 years (12 girls and 5 boys), who received a specialized product “Bifinilan” for 30 ± 2 days. Clinical and anamnestic characteristics, blood phenylalanine levels determined by the fluorescent method were assessed at the beginning and at the end of the study. Results. During the study, blood phenylalanine levels decreased significantly and were within the reference range (median before the study was 9.11 mg/dL, at the end of the study – 6.17 mg/dL, p < 0.05). At the same time, in children with initially elevated phenylalanine level, it decreased to an acceptable range, and in children with a normal phenylalanine level, it remained within the same range. Patients, their parents, and physicians were completely satisfied with the use of the product, which was well tolerated and the transition to which was not followed by an adaptation period. Conclusion. The efficacy, safety, and good tolerability of a specialized food product for dietary therapeutic nutrition “Bifinilan” in children over 7 years of age with phenylketonuria was demonstrated. Key words: children, specialized food product for dietary therapeutic nutrition, phenylalanine, phenylketonuria
Важную роль в профилактике врожденной и наследственной патологии играет ранний пренатальный скрининг (РПС), включающий УЗИ, исследование сывороточных маркеров РАРР-А и β-ХГЧ, аудит. Обработка результатов обследования проводилась с помощью программы «Astraia». Анализ результатов РПС в Ивановской области за период 2013-2019 г.г. показал, что при охвате скринингом, в среднем, 85,3% беременных, вставших на учет до 14 недель гестации, выявлено 157 случаев хромосомной патологии и 126 случаев врожденных пороков развития. Однако в 55 случаях хромосомная патология плода не была заподозрена при скрининге, пациентки не попали в группу риска и родили больных детей (все дети имели трисомию 21). При этом в трети случаев (у 19 пациенток - 34,5%) риск трисомии 21 оценивался как промежуточный и находился в интервале от 1:100 до 1:1000, в том числе у 3 женщин (5,5%) - в интервале от 1:100 до 1:300. Мы полагаем, что пациентки с промежуточным значением риска хромосомной патологии плода нуждаются в дальнейшем обследовании с целью верификации диагноза, и их необходимо информировать о возможностях неинвазивного пренатального теста. Early prenatal screening that includes ultrasound diagnostics, study of serum markers of PAPP-A and β-HCG, audit plays an important role in the prevention of congenital and hereditary diseases. The results of the study were processed with «Astraia». Analysis of the results of early prenatal screening in the Ivanovo region for the period 2013-2019 showed that when screening coverage, on average, 85.3% of pregnant women registered before 14 weeks of gestation, 157 cases of chromosomal pathology and 126 cases of congenital malformations were detected. However, in 55 cases, the diagnosis of fetal chromosomal pathology was not suspected during screening, and the patients were not at risk and gave birth to sick children (all children had trisomy 21). At the same time, in 1/3 of cases (in 19 patients - 34.5%), the risk of trisomy 21 was estimated as intermediate and was in the range from 1:100 to 1:1000, including in 3 women (5.5%) - in the range from 1:100 to 1:300. We suppose that patients with an intermediate risk of fetal chromosomal abnormalities need further examination to verify the diagnosis, and they should be informed about the possibilities of a non-invasive prenatal test.
Click to increase image sizeClick to decrease image size Additional informationNotes on contributorsM. Friedrich (Direktor: Omr Prof. Dr. sc. med. J. Külz) (Direktor: Prof. Dr. sc. med. M. J. Studenikin) (Direktor: Prof. Dr. H. Schmandtke)
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