Clinical case of microcephaly against the background of maternal phenylketonuria

Capa

Citar

Texto integral

Acesso aberto Acesso aberto
Acesso é fechado Acesso está concedido
Acesso é fechado Acesso é pago ou somente para assinantes

Resumo

Modern advances in medicine make it possible to maintain a high standard of living for patients with phenylketonuria (PKU). At the same time, numerous measures for the prevention and treatment of PKU reduce the number of cases of irreversible changes in the body of patients. However, the question of the influence of social factors that can cause the birth of children in PKU-sick mothers with congenital malformations remains relevant. The article presents a clinical case of microcephaly in two children as a result of maternal PKU. An analysis of the materials of the medical records of children in the children’s home, the results of clinical, laboratory, and instrumental examination methods was carried out. This clinical case confirms the high probability of giving birth to children with microcephaly in the absence of metabolic control in mothers with PKU. At the same time, the mother’s antisocial lifestyle and socio-economic factors caused the birth of a second child with the same pathology.

Texto integral

Acesso é fechado

Sobre autores

Alena Antonova

Astrakhan State Medical University

Autor responsável pela correspondência
Email: fduecn-2010@mail.ru
ORCID ID: 0000-0003-2581-0408

Cand. Sci. (Med.), Associate Professor at the Department of Hospital Pediatrics and Neonatology

Rússia, Astrakhan

O. Inozemtsova

Astrakhan State Medical University

Email: fduecn-2010@mail.ru
ORCID ID: 0009-0005-8179-9671
Rússia, Astrakhan

G. Yamanova

Astrakhan State Medical University

Email: fduecn-2010@mail.ru
ORCID ID: 0000-0003-2362-8979
Rússia, Astrakhan

N. Petrova

Astrakhan State Medical University

Email: fduecn-2010@mail.ru
ORCID ID: 0009-0007-2562-8936
Rússia, Astrakhan

Bibliografia

  1. Копылова Н.В. Фенилкетонурия: классификация, диагностика, диетотерапия. Вопросы детской диетологии. 2004;2(6):31–46. [Kopylova N.V. Phenylketonuria: classification, diagnosis, diet therapy. Voprosy detskoi dietologii. 2004;2(6):31–46. (In Russ.)].
  2. Шилов В.В., Журня А.А. Разработка компонентного состава аминокислотных смесей для питания больных фенилкетонурией. Пищевая промышленность: наука и технологии. 2021;14,1(51):31–42. [Shilov V.V., Zhurnya A.A. Development of the component composition of amino acid mixtures for nutrition of patients with phenylketonuria. Pishchevaya promyshlennost’: nauka i tekhnologii. 2021;14,1(51):31–42. (In Russ.)]. doi: 10.47612/2073-4794-2021-14-1(51)-31-42.
  3. Сиротина З.В., Филиппова В.В. Фенилкетонурия (клинический случай). Здравоохранение Дальнего Востока. 2018;3(77):61–4. [Sirotina Z.V., Filippova V.V. Phenylketonuria (clinical case). Zdravookhranenie Dal’nego Vostoka. 2018;3(77):61–4. (In Russ.)].
  4. Клиточенко Г.В., Малюжинская Н.В., Степанен-ко К.В. Современные возможности диагностики и терапии фенилкетонурии. Лекарственный вестник. 2021;15,1(81):24–9. [Klitochenko G.V., Malyuzhinskaya N.V., Stepanenko K.V. Modern possibilities of diagnosis and therapy of phenylketonuria. Lekarstvennyi vestnik. 2021;15,1(81):24–9. (In Russ.)].
  5. Денисенкова, Е.В., Кузнецова Л.И. Влияние материнской фенилкетонурии на исход беременности и родов. Вопросы детской диетологии. 2009;7(3):55–8. [Denisenkova, E.V., Kuznetsova L.I. The influence of maternal phenylketonuria on the outcome of pregnancy and childbirth. Voprosy detskoi dietologii. 2009;7(3):55–8. (In Russ.)].
  6. Ижевская В.Л., Иванова Л.Ю., Борзов Е.А. и др. Результаты анкетирования родителей больных фенилкетонурией детей. 3. Отношение к пренатальной диагностике фенилкетонурии. Медицинская генетика. 2015;14,10(160):14–20. [Izhevskaya V.L., Ivanova L.Yu., Borzov E.A., et al. Results of a survey of parents of children with phenylketonuria. 3. Attitude to prenatal diagnosis of phenylketonuria. Med Genet. 2015;14,10(160)14–20. (In Russ.)].
  7. Яфарова С.Ш., Шавалиев Р.Ф., Волгина С.Я. Профилактика фенилкетонурии как пример системы превентивных мероприятий при орфанных заболеваниях. Российский вестник перинатологии и педиатрии. 2017;62(5):124–9. [Yafarova S.Sh., Shavaliev R.F., Volgina S.Ya. Prevention of phenylketonuria as an example of a system of preventive measures for orphan diseases. Rossiiskii vestnik perinatologii i pediatrii. 2017;62(5):124–9. (In Russ.)]. doi: 10.21508/1027-4065-2017-62-5-124-129.
  8. Matalon K.M., Acosta P.B., Azen C. Role of nutrition in pregnancy with phenylketonuria and birth defects. Pediatr. 2003;6(112),Pt 2: 1534–36.
  9. Yıldız Y., Sivri H.S. Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management. Eur J Pediatr. 2019;178(7):1005–11. doi: 10.1007/s00431-019-03387-8.
  10. Rohde C., Thiele A. G., Baerwald C., et al. Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy. Orphan J Rare Dis. 2021;16(1):477. doi: 10.1186/s13023-021-02108-5.
  11. Alghamdi M.A., O’Donnell-Luria A., Almontashiri N.A., et al. Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman. JIMD Reports. 2023;64(5):312–6. https://doi.org/10.1002/jmd2.12384
  12. Grohmann-Held K., Burgard P., Baerwald C.G.O., et al. Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring’s outcome in phenylketonuria. J Inherit Metab Dis. 2022;45(6):1070–1. doi: 10.1002/jimd.12544.
  13. Gama M.I., Pinto A., Daly A., et al. The Impact of the Quality of Nutrition and Lifestyle in the Reproductive Years of Women with PKU on the Long-Term Health of Their Children. Nutrients. 2022;14(5):1021. doi: 10.3390/nu14051021.
  14. Caletti M.T., Bettocchi I., Baronio F., et al. Maternal PKU: Defining phenylalanine tolerance and its variation during pregnancy, according to genetic background. Nutrition, metabolism, and cardiovascular diseases: NMCD. 2020;30(6):977–83. doi: 10.1016/j.numecd.2020.02.003.
  15. Wang L., Ye F., Zou H., et al. The first study of successful pregnancies in Chinese patients with Phenylketonuria. BMC Pregnancy and Childbirth. 2020;20(1):253. doi: 10.1186/s12884-020-02941-9.

Arquivos suplementares

Arquivos suplementares
Ação
1. JATS XML
Baixar

Declaração de direitos autorais © Bionika Media, 2024